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Gene: Erbb2 MGI:95410

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Gene Summary

Name:
erb-b2 receptor tyrosine kinase 2
Synonyms:
Neu oncogene,  HER-2,  Neu,  HER2,  ErbB-2,  c-erbB2,  l11Jus8,  c-neu

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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
preweaning lethality, complete penetrance Erbb2tm1b(EUCOMM)Hmgu HOM   Early adult 4.24×10-05

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Viewing: all phenotypes

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 Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Human diseases caused by Erbb2 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 Erbb2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Glioma Susceptibility 1
Astrocytoma, Ependymoma, Glioblastoma multiforme OMIM:137800
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Short-segment aganglionic megacolon, Peripheral axonal neuropathy OMIM:619465
Hirschsprung Disease
Aganglionic megacolon ORPHA:388
Ovarian Cancer
OMIM:167000
Lung Cancer
OMIM:211980
Gastric Cancer
OMIM:613659

The table below shows human diseases predicted to be associated to Erbb2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy ORPHA:3283
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... OMIM:614954
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra... OMIM:108770
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef... OMIM:613697
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Left anterior fascicular block,... OMIM:181350
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... OMIM:618782
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... OMIM:604765
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... OMIM:620247
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Atrio... OMIM:611705
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Worster-Drought Syndrome
Abnormal cranial nerve morphology ORPHA:3465
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Abnormal motor neuron morp... DECIPHER:29
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Glossopharyngeal Neuralgia
Cranial nerve compression, Schwannoma, Abnormal glossopharyngeal nerve morphology, Syncope, Brady... ORPHA:221098
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Sudden cardiac d... OMIM:610476
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrioventricular block, Skeletal muscle atrophy, Absent P wave, Elbow flexion contracture, Palpit... OMIM:310300
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyo... OMIM:115197
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Benign Schwannoma
Peripheral schwannoma, Schwannoma, Abnormal cranial nerve morphology, Vestibular schwannoma, Scle... ORPHA:252164
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... ORPHA:168796
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Long Qt Syndrome 10
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... OMIM:611819
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Distal amyotrophy, Lower limb muscle weakness, Hand muscle weakness, Hand muscle atrophy, Weaknes... OMIM:607641
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... OMIM:613642
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:609909
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Systolic anterior motion of the mitral valve, Asymmetric septal hypertrophy, Cardiomyocyte hypert... OMIM:620236
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy, Hand muscle atrophy OMIM:183020
Sick Sinus Syndrome 2
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... OMIM:163800
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Danon Disease
Skeletal muscle autophagosome accumulation, Atrioventricular block, Dilated cardiomyopathy, Secon... OMIM:300257
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Abnorma... OMIM:605253
Burning Mouth Syndrome
Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials ORPHA:353253
Ethanolaminosis
Cardiomegaly OMIM:227150
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... OMIM:608751
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Marcus-Gunn Syndrome
Abnormal heart morphology, Abnormal fifth cranial nerve morphology ORPHA:91412
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure OMIM:192600
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Reduced left ventricular ejec... OMIM:619371
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Cardiac rhabdomyoma, Prolonged QRS complex, Suprav... ORPHA:45453
Congenital Myopathy 24
Nemaline bodies, Cardiomyopathy, Type 1 muscle fiber predominance, First degree atrioventricular ... OMIM:617336
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Progressive Familial Heart Block, Type Ia
Left anterior fascicular block, Left posterior fascicular block, Right bundle branch block, Synco... OMIM:113900
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia ORPHA:85447
Desminopathy
Atrioventricular block, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Weaknes... ORPHA:98909
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Leg muscle stiffness, Cardiomyopathy, Foot dorsiflexor w... ORPHA:98912
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... OMIM:618052
Timothy Syndrome
Atrioventricular block, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car... OMIM:601005
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea... OMIM:600884
Brugada Syndrome 2
Right bundle branch block, Syncope, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Nemaline Myopathy 8
Facial palsy, Respiratory failure, Death in infancy OMIM:615348
Glioma Susceptibility 1
Astrocytoma, Ependymoma, Glioblastoma multiforme OMIM:137800
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... OMIM:613838
Muscular Dystrophy, Becker Type
Muscular dystrophy, Cardiomyopathy, Abnormal EKG, Arrhythmia, Calf muscle pseudohypertrophy OMIM:300376
Spinal Muscular Atrophy, Type I
Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:253300
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h... OMIM:613172
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Death in adolescence, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:300717
Cardiomyopathy, Familial Hypertrophic, 28
Apical hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Systolic anterior mot... OMIM:619402
Leber Hereditary Optic Neuropathy
Optic atrophy, Myopathy, Arrhythmia, Ventricular preexcitation, Retinal telangiectasia ORPHA:104
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Primum atrial septal defect, Atrioventricular block, ... ORPHA:1329
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Arnold-Chiari Malformation Type I
Cranial nerve compression, Abnormality of the vestibulocochlear nerve, Abnormality of the twelfth... ORPHA:268882
Nathalie Syndrome
Arrhythmia ORPHA:2663
Aganglionosis, Total Intestinal
Total intestinal aganglionosis OMIM:202550
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:613869
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:612877
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Distal amyotrophy, Decreased motor ne... OMIM:601596
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ... OMIM:612098
Atrial Fibrillation, Familial, 15
Atrial flutter, Supraventricular tachycardia, Left atrial enlargement, Atrial fibrillation, Sudde... OMIM:615770
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Wolff-P... OMIM:613690
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys... ORPHA:99103
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Holt-Oram Syndrome
Hypoplastic left heart, Atrioventricular block, Paroxysmal atrial fibrillation, Atrioventricular ... ORPHA:392
Amyotrophic Lateral Sclerosis 4, Juvenile
Distal amyotrophy, Amyotrophic lateral sclerosis, Decreased compound muscle action potential ampl... OMIM:602433
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria
Abnormal cranial nerve morphology, Abnormal mitochondria in muscle tissue OMIM:258470
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:611722
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Palpitations, Permanent atrial fibrillation, Syncope, Prolonged Q... OMIM:613980
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricular noncompactio... OMIM:252011
Atrial Fibrillation, Familial, 6
Reduced left ventricular ejection fraction, Left atrial enlargement, Left ventricular hypertrophy... OMIM:612201
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi... OMIM:115000
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Atrioventricular block, Dilated cardiom... ORPHA:98855
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Bilateral Polymicrogyria
Abnormality of masticatory muscle, Arthrogryposis multiplex congenita, Facial diplegia, Abnormal ... ORPHA:268940
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:616081
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Cardiomyocyte hypertr... ORPHA:263297
Cardiomyopathy, Familial Hypertrophic, 12
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Vent... OMIM:612124
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Atrioventricular block, Dilated cardiom... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Atrioventricular block, Dilated cardiom... ORPHA:98853
Brugada Syndrome 1
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... OMIM:601144
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Facial diplegia, Neonatal death, Respiratory insufficienc... OMIM:611890
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... ORPHA:75566
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... ORPHA:2041
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter... ORPHA:300751
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology ORPHA:137596
Tick-Borne Encephalitis
Myelitis, Skeletal muscle atrophy, Abnormal cranial nerve morphology, Abnormal glossopharyngeal n... ORPHA:297
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Skeletal muscle atrophy, Decreased nerve conduction velocity, Peripheral demyelination, Hand musc... ORPHA:99944
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:616812
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric... OMIM:613873
Heart Block, Congenital
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... OMIM:234700
Fixed Subaortic Stenosis
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Abnormal heart morphology... ORPHA:3092
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure, Amyotrophic lateral sclerosis OMIM:613435
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal peripheral action potential amplitude, Respiratory failure, Abnormal seventh cranial phy... ORPHA:90117
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Atrial Septal Defect 1
Aortic valve stenosis, Secundum atrial septal defect, Second degree atrioventricular block, Tetra... OMIM:108800
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Third degree atrioventricular block, Ragged-red muscle fibers ORPHA:480
X-Linked Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Atrioventricular block, Limb-girdle mus... ORPHA:98863
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitations, Permanent atrial fib... OMIM:611493
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... ORPHA:99095
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy, Neonatal respiratory distress, Respiratory failure OMIM:619057
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation... ORPHA:3286
Arterial Calcification, Generalized, Of Infancy, 2
Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ... OMIM:614473
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Dilatation of the ventricular cavity, Rig... OMIM:609040
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Tricuspid regurgitation, Left ventricular noncompaction, Left ventricular... OMIM:619167
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Sensory axonal neuropathy, Cardi... ORPHA:52430
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block ORPHA:871
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Left ventricular hypertr... OMIM:613876
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Hypertrophic cardiomyopath... OMIM:619424
Familial Isolated Restrictive Cardiomyopathy
Tricuspid regurgitation, Hypertrophic cardiomyopathy, Mitral regurgitation, Pulmonary venous hype... ORPHA:75249
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:614096
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:612577
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Atrioventricular block, Cardiomyopathy, Rhabdomyolysis, Pre... OMIM:212138
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:612999
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... OMIM:615248
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T... OMIM:618654
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca... OMIM:614916
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Joint contracture of the hand, Distal amyotrophy, Scapuloperoneal amyotrophy, Spinal muscular atr... OMIM:611067
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy OMIM:192605
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Optic disc pallor, Perimembranous ventricular septal defect, Limb hypertonia OMIM:619170
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Abnormal autonomic nervous syste... ORPHA:101016
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m... ORPHA:1345
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Abnormal heart morphology, Abnormal electrophysio... ORPHA:398124
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hypertr... OMIM:300696
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy... ORPHA:154
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Bundle branch block, Anomalous pulmonary venous return, Transient isch... ORPHA:99104
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Abnormal motor nerve conduction velocity, Respiratory failure, Facial ... OMIM:614399
Mitochondrial Complex I Deficiency, Nuclear Type 18
Optic disc pallor, Respiratory failure, Death in infancy OMIM:618240
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnorm... ORPHA:1055
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... ORPHA:3193
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... OMIM:615441
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bicuspid aortic valve, Left atri... OMIM:616201
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, Cardiomyopathy, EMG: myopathic abnormalities, Weakness o... ORPHA:171445
Cirrhotic Cardiomyopathy
Congestive heart failure, Elevated pulmonary artery pressure, Ventricular arrhythmia, Reduced lef... ORPHA:57777
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Exercise-induced rhabdomyolysis, Patent foramen o... ORPHA:26793
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval OMIM:220400
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr... OMIM:615344
Muscular Dystrophy, Congenital, 1B
Facial palsy, Respiratory failure OMIM:604801
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Vacterl Association With Hydrocephalus
Respiratory insufficiency, Hydrocephalus, Stillbirth, Aqueductal stenosis, Respiratory failure OMIM:276950
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A... ORPHA:860
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Angina pectoris, Ventric... OMIM:115195
Polyglucosan Body Neuropathy, Adult Form
Peripheral axonal neuropathy, Abnormal upper motor neuron morphology, Neurogenic bladder, Orthost... OMIM:263570
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Hypertrophic cardiomyopathy, Cardiomegaly, Bradycardia, Pericardial effusion OMIM:614702
Primary Lateral Sclerosis, Juvenile
Spasticity of facial muscles, Abnormal upper motor neuron morphology, Decreased compound muscle a... OMIM:606353
Ebstein Malformation Of The Tricuspid Valve
Ebstein anomaly of the tricuspid valve, Congestive heart failure, Cerebral ischemia, Imperforate ... ORPHA:1880
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc... ORPHA:268
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Respiratory failure, Respiratory insufficiency due to mus... ORPHA:2590
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Camptodactyly, Arrhythmia OMIM:618453
Glycogen Storage Disease Xv
Cardiomyocyte hypertrophy, Type 1 muscle fiber predominance, T-wave inversion, Paroxysmal ventric... OMIM:613507
Hirschsprung Disease, Susceptibility To, 3
Aganglionic megacolon, Total colonic aganglionosis, Long-segment aganglionic megacolon OMIM:613711
Hirschsprung Disease, Susceptibility To, 2
Aganglionic megacolon OMIM:600155
Hirschsprung Disease, Susceptibility To, 5
Aganglionic megacolon OMIM:600156
Hirschsprung Disease, Susceptibility To, 4
Aganglionic megacolon OMIM:613712
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Palpitations, Abnormal cardiovascular system physiology, Pulmonary arter... ORPHA:422
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Decreased amplitude of sensory action potentials, Abnormality of the... ORPHA:85446
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Long Qt Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... OMIM:192500
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Tricuspid regur... OMIM:613426
Short Qt Syndrome 1
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... OMIM:609620
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff... ORPHA:3282
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Cardiomyopathy, Dilated, 2F
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:619747
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Increased variability in muscle fiber diameter, Increased intramy... OMIM:617228
Combined Oxidative Phosphorylation Deficiency 23
Hypertrophic cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure OMIM:616198
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:606070
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory failure, Respiratory insufficiency ORPHA:266
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, First degree atrioventricular block, Abnormal cardiac septum morphology, Fac... ORPHA:589821
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr... ORPHA:542306
Amyotrophic Lateral Sclerosis 28
Respiratory failure OMIM:620452
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula... OMIM:615474
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Second degree atrioventricular block, Ventricular septal defect, Overriding aorta, Pulmonary arte... OMIM:617021
Immunodeficiency 95
Respiratory failure OMIM:619773
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Limb-girdle muscular dystrophy, Dilated cardiomyopathy, Reduced muscle fiber alpha dystroglycan, ... ORPHA:206559
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Congestive heart failure, Ventricular septal defect, Paroxysmal atrial tachycardia... ORPHA:49827
Arthrogryposis Multiplex Congenita 6
Respiratory failure, Death in childhood, Death in infancy, Neonatal death OMIM:619334
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Abnormal oligodendroglia morphology ORPHA:217260
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Tako-Tsubo Cardiomyopathy
Dilatation of the ventricular cavity, Mitral regurgitation, Arrhythmia, Ventricular fibrillation,... ORPHA:66529
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,... ORPHA:615
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Arrhythmia, Atr... OMIM:249270
Congenital Myopathy 14
Respiratory failure, Death in infancy, Respiratory insufficiency due to muscle weakness OMIM:618414
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Joint contracture of the 5th finger, Bradycardia OMIM:614407
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... OMIM:612347
Perching Syndrome
Cyanosis OMIM:617055
Hepatic Veno-Occlusive Disease
Jaundice, Respiratory failure ORPHA:890
Propionic Acidemia
Hepatomegaly, Arrhythmia, Cardiomyopathy ORPHA:35
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy OMIM:610992
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Sinus tachycardia, Congestive... OMIM:255160
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Ventricular hypertrophy, Second degree atrioventricular block, Ventricular septal defe... ORPHA:369929
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Ragged-red muscle fibers, Myopathy, Left ventricular hypertrophy, Arrhy... OMIM:540000
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:616437
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Congenital Muscular Dystrophy With Intellectual Disability
Facial palsy, Respiratory failure, Respiratory insufficiency ORPHA:370968
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:613954
Combined Oxidative Phosphorylation Deficiency 20
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:615917
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Autonomic bladder dysfunction, Hypertrophic card... ORPHA:330001
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Ventricular sept... OMIM:620609
Ebstein Anomaly
Atrial standstill, Ebstein anomaly of the tricuspid valve, Right bundle branch block, Atrial sept... OMIM:224700
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Familial Atrial Fibrillation
Atrial fibrillation, Syncope, Palpitations, Myocardial infarction ORPHA:334
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Respiratory failure OMIM:263000
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Pontocerebellar Hypoplasia Type 1
Optic atrophy, Respiratory failure, Degeneration of anterior horn cells ORPHA:2254
Intermediate Nemaline Myopathy
Facial palsy, Facial diplegia, Respiratory failure ORPHA:171433
Neuromyelitis Optica Spectrum Disorder
Myelitis, Respiratory failure ORPHA:71211
Dystonia 23
Arrhythmia, Torticollis OMIM:614860
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:602099
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Naxos Disease
Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ... ORPHA:34217
Developmental And Epileptic Encephalopathy 101
Limb joint contracture, Third degree atrioventricular block, Bradycardia OMIM:619814
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, ... ORPHA:371428
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Familial Multiple Nevi Flammei
Arrhythmia, Abnormal cranial nerve morphology, Intracranial hemorrhage, Pulmonary embolism ORPHA:624
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Ragged-red muscle fibers, Arrhythmia, Proximal amyotrophy, Facial palsy, ... OMIM:615084
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi... ORPHA:555874
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:610127
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity, Arrhythmia, Camptodactyly of finger ORPHA:2928
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Splenomegaly, Arrhythmia, Hepat... OMIM:602390
Infantile Refsum Disease
Optic atrophy, Cardiomyopathy, Arrhythmia, Hepatomegaly, Facial palsy ORPHA:772
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Short Qt Syndrome 7
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death OMIM:620231
Adams-Oliver Syndrome 5
Umbilical hernia, Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement... OMIM:616028
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Skeletal muscle atrophy ORPHA:247604
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal sensory nerve conduction velocity, Axonal degeneration, Abnormal peripheral nerve morpho... ORPHA:88628
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... OMIM:603830
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral myelination, Abnormal peripheral nerve morphology by anatomical site, Skeleta... ORPHA:168563
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Cardiomegaly, Atrial septa... OMIM:620135
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, N... OMIM:245400
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... OMIM:620519
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Bicus... ORPHA:555877
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Respiratory failure, Death in infancy OMIM:616277
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai... ORPHA:1478
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Hepatomegaly, Dilated cardiomyopathy, Ventricular tachycardia OMIM:600649
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia ORPHA:40366
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Breath-Holding Spells
Cyanosis OMIM:607578
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure ORPHA:1832
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Leber Optic Atrophy
Optic atrophy, Arrhythmia, Optic neuropathy, Myopathy OMIM:535000
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Ventilator dependence with inability to wean, Respiratory failure, Respiratory insufficiency due ... ORPHA:254875
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Syncope, Ventricular fibrillation, Prolonged QTc interval ORPHA:90647
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Myotonic Dystrophy 1
Atrial fibrillation, First degree atrioventricular block, Facial diplegia, Atrial flutter OMIM:160900
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Hypert... OMIM:616501
Multiple Mitochondrial Dysfunctions Syndrome 3
Optic atrophy, Respiratory failure, Respiratory insufficiency OMIM:615330
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Leigh Syndrome, Nuclear
Optic atrophy, Respiratory failure, Respiratory insufficiency OMIM:256000
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Facial palsy, Respiratory failure ORPHA:98913
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Muscular dystrophy, Elbow flexion contracture, Arrhythmia, Joint contracture, Generalized amyotrophy OMIM:616516
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... ORPHA:1145
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri... OMIM:615745
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Respiratory insufficiency, Facial diplegia, Neonatal d... OMIM:618186
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Tricuspid regurgitation, Palpitations, Bicuspid aortic valve, Subvalvular a... OMIM:620067
Kearns-Sayre Syndrome
Arrhythmia, Third degree atrioventricular block, Cardiomyopathy, Ragged-red muscle fibers OMIM:530000
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, H... OMIM:261740
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Cyanosis, Death in infancy, Neonatal death, Respiratory failure OMIM:265120
Hyperekplexia 4
Respiratory failure OMIM:618011
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Sinus tachycardia, Cranial nerve compression, Congestive heart fa... ORPHA:94080
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Ventilator dependence with inability to wean, Decreased nerve conduction velocity, Respiratory fa... OMIM:604320
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Optic atrophy, Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:614299
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Cardiac arrest, Arrhythmia, Abnormal autonomic nervous system physiology ORPHA:168593
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Multiple Mitochondrial Dysfunctions Syndrome 1
Facial paralysis, Respiratory insufficiency, Death in infancy, Neonatal death, Respiratory failure OMIM:605711
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Abnormal atrioventricular conduction, Skeletal muscle atrophy, Cardiomyopathy, Limb muscle weakne... ORPHA:329336
Igg4-Related Ophthalmic Disease
Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital nerve, Abnormality of the e... ORPHA:449563
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Optic atrophy, Cardiomyopathy, Congestive heart failure, Limb muscle weakness, Cardiomegaly OMIM:619259
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Premature ventricular contraction, Bacterial endocarditis, Heart block ORPHA:1964
Pelizaeus-Merzbacher Disease
Reduction of oligodendroglia OMIM:312080
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis ORPHA:91130
Lyme Disease
Arrhythmia, Atrioventricular block ORPHA:91546
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:105550
Fabry Disease
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Bundle branch bloc... ORPHA:324
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... ORPHA:70591
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Petechiae, Purpura, Respiratory failure, Vasculitis in the skin OMIM:620296
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Cyanosis, Syringomyelia, Hydrocephalus, Spina bifida OMIM:207950
Scimitar Syndrome
Hypoplastic left heart, Abnormal hemidiaphragm morphology, Congestive heart failure, Abnormal hea... ORPHA:185
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Brugada Syndrome 7
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... OMIM:613120
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res... ORPHA:275766
Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... ORPHA:35689
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Hypertension, Cardiomyopathy ORPHA:3222
Refsum Disease, Classic
Cardiomyopathy, Congestive heart failure, Limb muscle weakness, Cardiomegaly, Arrhythmia OMIM:266500
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Achilles tendon contracture OMIM:607225
Sinus Node Disease And Myopia
Sick sinus syndrome, Abnormal electrophysiology of sinoatrial node origin OMIM:182190
Mitochondrial Complex I Deficiency, Nuclear Type 10
Optic atrophy, Respiratory failure OMIM:618233
American Trypanosomiasis
Cardiomyopathy, Congestive heart failure, Splenomegaly, Aganglionic megacolon, Arrhythmia, Hepato... ORPHA:3386
Fabry Disease
Congestive heart failure, Transient ischemic attack, Angina pectoris, Arrhythmia, Left ventricula... OMIM:301500
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:212140
Ventricular Fibrillation, Paroxysmal Familial, 2
Premature ventricular contraction, Sudden cardiac death, Ventricular fibrillation OMIM:612956
Infant Acute Respiratory Distress Syndrome
Cyanosis, Hypoxemia, Respiratory failure ORPHA:70587
Triosephosphate Isomerase Deficiency
Respiratory insufficiency, Death in infancy, Death in adolescence, Jaundice, Respiratory insuffic... OMIM:615512
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure OMIM:616867
Isolated Succinate-Coq Reductase Deficiency
Abnormal atrioventricular conduction, Distal amyotrophy, Skeletal muscle atrophy, Hypertrophic ca... ORPHA:3208
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Congestive heart failure, Myopathy, Arrhythmia, Flexion contracture ORPHA:157973
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... OMIM:611878
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Endocardial fibroelastosis, Right atrial enlargement, Restrictive cardiomyopathy, Pericardial eff... OMIM:619313
Muscular Dystrophy, Duchenne Type
Muscular dystrophy, Dilated cardiomyopathy, Cardiomyopathy, Abnormal EKG, Congestive heart failur... OMIM:310200
Symmetrical Thalamic Calcifications
Arrhythmia ORPHA:1314
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P... ORPHA:1686
Hemochromatosis, Type 1
Cardiomyopathy, Congestive heart failure, Splenomegaly, Cardiomegaly, Telangiectasia, Arrhythmia,... OMIM:235200
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor... ORPHA:1457
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Joint contracture of the hand, Cardiomyopathy, Hypertrophic cardiomyopat... OMIM:300280
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Aortic valve calcification, Increased QRS voltage, Abnormal pulse pressure... ORPHA:3093
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Atrial flutter, Contractures of the large joints, Congestive heart failure... ORPHA:324410
Spinocerebellar Ataxia Type 1
Abnormal nerve conduction velocity, Optic atrophy, Respiratory failure, Abnormality of somatosens... ORPHA:98755
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly ORPHA:391428
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Tricuspid regurgitation, Mitral valve pro... ORPHA:228410
Isolated Atp Synthase Deficiency
Optic atrophy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Arrhythmia, Hepatomegaly ORPHA:254913
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop... ORPHA:732
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Axonal loss, Abnormal upper motor neuron morphology, Peripheral demyelination OMIM:221770
Amyotrophic Lateral Sclerosis 2, Juvenile
Distal amyotrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Abnormal upper motor n... OMIM:205100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Facial palsy, Respiratory failure OMIM:606612
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Optic disc pallor, Respiratory failure, Death in childhood OMIM:615838
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Generalized amyot... ORPHA:275872
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Sys... ORPHA:2299
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Cardiomegaly, Pulm... OMIM:619051
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure OMIM:269920
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Respiratory failure ORPHA:168486
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly OMIM:619064
Al Amyloidosis
Abnormal cardiac ventricle morphology, Gastrointestinal hemorrhage, Macroglossia, Postural hypote... ORPHA:85443
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Aganglionic megacolon, Arrhythmia ORPHA:2151
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology ORPHA:100070
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Cyanosis ORPHA:2004
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure OMIM:619483
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Combined Oxidative Phosphorylation Deficiency 11
Death in childhood, Death in infancy, Neonatal death, Stillbirth, Respiratory failure OMIM:614922
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Respiratory failure OMIM:616505
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Abnormal cardiac septum morphology ORPHA:93941
Carnitine Palmitoyl Transferase 1A Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Arrhythmia, Hepatomegaly, Sudden cardiac death ORPHA:156
Asbestos Intoxication
Cyanosis, Oxygen desaturation on exertion, Hypoxemia, Respiratory failure ORPHA:2302
Pneumocystosis
Respiratory failure requiring assisted ventilation, Hypoxemia, Respiratory failure, Respiratory i... ORPHA:723
Ciliary Dyskinesia, Primary, 5
Respiratory insufficiency due to defective ciliary clearance, Neonatal respiratory distress, Resp... OMIM:608647
Amyloidosis, Hereditary Systemic 1
Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Peripheral axonal neuropath... OMIM:105210
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy OMIM:610678
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Cardiomegaly, Atrial se... OMIM:618652
Thoracic Dysplasia-Hydrocephalus Syndrome
Communicating hydrocephalus, Respiratory failure ORPHA:1861
Hereditary Motor And Sensory Neuropathy, Type Iic
Decreased distal sensory nerve action potential, Respiratory failure, Intercostal muscle weakness OMIM:606071
Mucopolysaccharidosis Type 3
Atrioventricular block, Umbilical hernia, Reduced left ventricular ejection fraction, Abnormal mi... ORPHA:581
Niemann-Pick Disease, Type C2
Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, P... OMIM:607625
Hemochromatosis, Type 4
Hepatomegaly, Arrhythmia, Cardiomyopathy OMIM:606069
Immunodeficiency 54
Respiratory failure, Respiratory insufficiency OMIM:609981
Liddle Syndrome
Arrhythmia, Cerebral ischemia, Hypertension ORPHA:526
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Arrhythmia ORPHA:1808
Cardiogenic Shock
Impaired myocardial contractility, Hypotension, Right ventricular failure, Abnormal left ventricu... ORPHA:97292
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Skeletal muscle atrophy, Neonatal death, Paucity of anterior horn ... OMIM:253310
Atrophoderma Vermiculata
Heart block ORPHA:79100
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure OMIM:312170
Ullrich Congenital Muscular Dystrophy
Respiratory failure ORPHA:75840
Mulibrey Nanism
Congestive heart failure, Cardiomegaly, Pericardial constriction, Hepatomegaly, Myocardial fibrosis OMIM:253250
Tricuspid Atresia
Cyanosis ORPHA:1209
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure ORPHA:70472
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure, Reduced subcutaneous adipose tissue ORPHA:363400
Dk1-Cdg
Dilated cardiomyopathy, Congestive heart failure, Cardiomyocyte hypertrophy, Interstitial cardiac... ORPHA:91131
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Myopathy, Cardiomegaly, Arrhythmia, Distal arthrogryposis, Hepatomegaly ORPHA:42
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Congestive heart failure, Hypertrophic cardiomyopathy, Camptodactyly of finger, Abnormal pulmonar... ORPHA:1194
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Sinus tachycardia, Cranial nerve compression, Congestive heart fa... ORPHA:276621
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Sensory axonal neuropathy, Cardiomyopathy, Limb muscle weakness, Ragged-red muscle fibers, Arrhyt... OMIM:609286
Surfactant Metabolism Dysfunction, Pulmonary, 3
Neonatal respiratory distress, Cyanosis, Death in infancy, Neonatal death, Hypoxemia, Respiratory... OMIM:610921
Snakebite Envenomation
Erythema, Respiratory failure, Angioedema, Ecchymosis ORPHA:449285
Adult Acute Respiratory Distress Syndrome
Hypoxemia, Abnormal blood gas level, Respiratory failure ORPHA:70578
Absence Of The Pulmonary Artery
Atrial flutter, Abnormal hemidiaphragm morphology, Congestive heart failure, Abnormal heart morph... ORPHA:980
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory failure, Respiratory insufficiency due to muscle weakness ORPHA:352447
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Exercise-induced rhabdom... OMIM:201475
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Jaundice, Respiratory failure OMIM:250940
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Thyrotoxic Periodic Paralysis
Second degree atrioventricular block, Lower limb muscle weakness, Palpitations, Rhabdomyolysis, S... ORPHA:79102
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Respiratory failure ORPHA:444013
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Myopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Cardiac arrest OMIM:617713
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Hypertrophic cardiomyopathy, Facial hypotonia, Shortened PR interval, Cardiomegaly,... ORPHA:308552
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrioventricular block ORPHA:93317
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Optic atrophy, Cyanosis OMIM:261680
Primary Triglyceride Deposit Cardiomyovasculopathy
Rimmed vacuoles, Coronary artery stenosis, Cardiomyopathy, Abnormal cardiomyocyte morphology, Pal... ORPHA:565612
Leopard Syndrome 1
Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bundle branch block, Complete a... OMIM:151100
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Hereditary Methemoglobinemia
Cyanosis ORPHA:621
Glycogen Storage Disease Ii
Firm muscles, Sinus tachycardia, Limb muscle weakness, Splenomegaly, Shortened PR interval, Cardi... OMIM:232300
Typhoid
Epistaxis, Gastrointestinal hemorrhage, Splenomegaly, Arrhythmia, Hepatomegaly, Cardiac arrest ORPHA:99745
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Spina bifida occulta, Respiratory failure, Respiratory insufficiency due to muscle weakness OMIM:618291
Hec Syndrome
Arrhythmia, Endocardial fibroelastosis, Cardiomyopathy ORPHA:2119
Severe Congenital Nemaline Myopathy
Facial palsy, Facial diplegia, Respiratory failure ORPHA:171430
Sandhoff Disease
Skeletal muscle atrophy, Hepatosplenomegaly, Cardiomegaly, Orthostatic hypotension, Hepatomegaly,... OMIM:268800
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Neuraminidase Deficiency
Skeletal muscle atrophy, Cardiomyopathy, Splenomegaly, Cardiomegaly, Hepatomegaly OMIM:256550
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Ventricular bigeminy, Limb muscle weakness, Arrhythmia, Left bundle branch block, Facial palsy OMIM:610131
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Cervical myelopathy, Respiratory failure, Myelopathy, Death in childhood OMIM:617186
Alg1-Cdg
Respiratory failure ORPHA:79327
Encephalopathy, Ethylmalonic
Acrocyanosis, Petechiae, Death in infancy OMIM:602473
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Absent brainstem auditory responses, Respiratory failure ORPHA:3240
Congenital Myopathy 21 With Early Respiratory Failure
Respiratory failure OMIM:620326
Idiopathic Pulmonary Hemosiderosis
Diffuse alveolar hemorrhage, Hepatosplenomegaly, Cardiomegaly, Hepatomegaly, Heart murmur ORPHA:99931
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Avian Influenza
Myelitis, Hypoxemia, Respiratory failure, Miscarriage ORPHA:454836
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Hypoxemia, Cyanosis ORPHA:2257
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Respiratory failure, Death in childhood, Respiratory insufficiency due to muscle w... OMIM:220110
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Mitral regurgitation, Right bundle branch block, Left atrial enlargement, Pulm... OMIM:614008
Glycogen Storage Disease Due To Aldolase A Deficiency
Decreased muscle mass, Muscle fiber atrophy, Exercise-induced rhabdomyolysis, Skeletal myopathy, ... ORPHA:57
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Optic atrophy, Arrhythmia, Cerebral ischemia ORPHA:60040
Peroxisome Biogenesis Disorder 4A (Zellweger)
Respiratory failure, Death in infancy OMIM:614862
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Mitral valve prolapse, Arrhythmia ORPHA:230839
Machado-Joseph Disease Type 3
Skeletal muscle atrophy, Spinocerebellar tract degeneration, Distal lower limb amyotrophy, Abnorm... ORPHA:276244
Von Hippel-Lindau Disease
Upper limb muscle weakness, Cardiomyopathy, Palpitations, Distal lower limb muscle weakness, Arrh... ORPHA:892
Meier-Gorlin Syndrome 7
Second degree atrioventricular block, Complete atrioventricular canal defect, Ventricular septal ... OMIM:617063
Congenital Pulmonary Lymphangiectasia
Cyanosis ORPHA:2414
Acute Interstitial Pneumonia
Cyanosis, Hypoxemia, Respiratory failure ORPHA:79126
Acute Lung Injury
Hypoxemia, Respiratory failure ORPHA:178320
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Respiratory failure, Amyotrophic lateral sclerosis ORPHA:803
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Congenital Multicore Myopathy With External Ophthalmoplegia
Facial palsy, Facial diplegia, Respiratory failure ORPHA:98905
Double Outlet Left Ventricle
Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, Abnormal right ventricular fun... ORPHA:3427
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart valv... ORPHA:363705
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Facial paralysis, Abnormality of the autonomic nervous... ORPHA:79138
Metatropic Dysplasia
Respiratory failure, Respiratory insufficiency OMIM:156530
Rheumatic Fever
Epistaxis, Abnormal heart valve morphology, Abnormal aortic valve morphology, Abnormal mitral val... ORPHA:3099
High Altitude Pulmonary Edema
Hypoxemia, Cyanosis ORPHA:330012
Nephronophthisis 2
Respiratory failure, Respiratory insufficiency OMIM:602088
Proximal Spinal Muscular Atrophy
Neonatal respiratory distress, Facial diplegia, Intercostal muscle weakness, Respiratory insuffic... ORPHA:70
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Hypertension, Myocardial infarction OMIM:208000
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Third degree atrioventricular block, Biventricular hypertrophy, Atriovent... OMIM:619573
Deafness-Lymphedema-Leukemia Syndrome
Bruising susceptibility, Respiratory failure ORPHA:3226
Combined Oxidative Phosphorylation Deficiency 3
Optic atrophy, Respiratory insufficiency, Death in childhood, Death in infancy, Optic neuropathy,... OMIM:610505
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia OMIM:616949
Laubry-Pezzi Syndrome
Aortic regurgitation, Congestive heart failure, Elevated pulmonary artery pressure, Palpitations,... ORPHA:99094
Erythrokeratodermia Variabilis Et Progressiva 6
Arrhythmia OMIM:618531
Mogs-Cdg
Optic atrophy, Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Absent brainstem a... ORPHA:79330
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure OMIM:603689
Oculocerebrofacial Syndrome, Kaufman Type
Optic atrophy, Respiratory failure ORPHA:2707
Boutonneuse Fever
Petechiae, Respiratory failure ORPHA:83313
Holt-Oram Syndrome
Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Sinus bradycardia, Ve... OMIM:142900
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Congestive heart failure, Decreased muscle mass, Portal hypertension, Splenomegal... ORPHA:465508
Benign Familial Neonatal Epilepsy
Circumoral cyanosis ORPHA:1949
Ciliary Dyskinesia, Primary, 53
Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricular septal def... OMIM:620642
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Tricuspid regurgitation, Right atrial enlargement, Pulmonary arterial hypertension, Mitral valve ... OMIM:620233
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology, Acrocyanosis ORPHA:3165
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Palmoplantar cutis laxa, Respiratory failure, Hydrocephalus, Neonatal death OMIM:616482
Hyperoxaluria, Primary, Type I
Atrioventricular block, Arterial occlusion, Raynaud phenomenon, Intermittent claudication OMIM:259900
Congenital Myasthenic Syndrome
Respiratory arrest, Intermittent episodes of respiratory insufficiency due to muscle weakness, Fr... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Respiratory arrest, Intermittent episodes of respiratory insufficiency due to muscle weakness, Fr... ORPHA:98914
Fibrodysplasia Ossificans Progressiva
Respiratory failure, Respiratory insufficiency OMIM:135100
Acromesomelic Dysplasia 4
Third degree atrioventricular block, Umbilical hernia OMIM:619636
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Acquired Methemoglobinemia
Tachycardia, Arrhythmia, Palpitations, Syncope ORPHA:464453
Familial Aortic Dissection
Cardiomegaly, Aortic regurgitation, Abnormal left ventricular function ORPHA:229
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Cardiomyopathy, Myopathy, Rhabdomyolysis, Arrhythmia, Hepatomegaly ORPHA:228305
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Dilated cardiomyopathy, Rhabdomyolysis, Ventricular septal defect, ... OMIM:614921
Lethal Congenital Contracture Syndrome 2
Respiratory failure OMIM:607598
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Combined Oxidative Phosphorylation Deficiency 37
Optic atrophy, Respiratory failure, Respiratory insufficiency OMIM:618329
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Respiratory failure OMIM:617301
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206436
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Optic atrophy, Neurogenic bladder, Respiratory failure, Respiratory failure requiring assisted ve... ORPHA:496641
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory failure ORPHA:2759
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology, Distal amyotrophy OMIM:215470
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Quadriceps muscle weakness, Shoulder girdle muscle weakness, Reduced left... ORPHA:254892
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly OMIM:255120
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Hydrocephalus, Stillbirth, Optic disc pallor, Facial palsy, Respiratory failure OMIM:259720
Surfactant Metabolism Dysfunction, Pulmonary, 2
Cyanosis, Hypoxemia, Respiratory failure, Respiratory insufficiency OMIM:610913
Ataxia With Vitamin E Deficiency
Hypertrophic cardiomyopathy, Arrhythmia, Skeletal muscle atrophy ORPHA:96
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Distal amyotrophy, Motor axonal neuropathy, Abnormal lower motor neuron morphology... OMIM:614298
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory failure OMIM:620166
Giant Cell Arteritis
Optic atrophy, Vasculitis, Epistaxis, Double outlet right ventricle with subpulmonary ventricular... ORPHA:397
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis ORPHA:1302
Mitochondrial Complex I Deficiency, Nuclear Type 1
Respiratory insufficiency, Cyanosis, Death in infancy, Optic disc pallor, Optic neuropathy, Respi... OMIM:252010
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Death in childhood OMIM:619847
Chronic Pneumonitis Of Infancy
Hypoxemia, Cyanosis ORPHA:91359
Congenital Fibrinogen Deficiency
Subcutaneous hemorrhage, Cyanosis, Bruising susceptibility ORPHA:335
Sandestig-Stefanova Syndrome
Respiratory failure OMIM:618804
Poliomyelitis
Myelitis, Abnormal motor nerve conduction velocity, Respiratory failure, Respiratory failure requ... ORPHA:2912
Hydrops Fetalis
Abnormal heart morphology, Arrhythmia, Pericardial effusion, Capillary leak ORPHA:1041
Pseudo-Torch Syndrome 3
Cardiomegaly, Hypertension, Cerebral hemorrhage OMIM:618886
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Arrhythmia, Mildly reduced left ventricular ejection fraction OMIM:618098
Barth Syndrome
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgit... OMIM:302060
Pulmonary Arteriovenous Malformation
Bacterial endocarditis, Epistaxis, Pulmonary hemorrhage, Palpitations, Hemothorax, Transient isch... ORPHA:2038
Leptospirosis
Hypotension, Pulmonary hemorrhage, Rhabdomyolysis, Arrhythmia, First degree atrioventricular bloc... ORPHA:509
Staphylococcal Necrotizing Pneumonia
Hypoxemia, Respiratory failure ORPHA:36238
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Optic atrophy, Abnormal EKG, Arrhythmia, Prolonged QT interval, Acute rhabdomyolysis, EMG: myopat... ORPHA:480864
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Cardiomyopathy, Cardiomegaly, Camptodactyly of toe, Impaired myocardial contra... ORPHA:158687
Congenital Myopathy 10B, Mild Variant
Respiratory failure OMIM:620249
Singleton-Merten Syndrome 2
Aortic valve stenosis, Arrhythmia, Aortic valve calcification OMIM:616298
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Right atrial enlargement, Atrial septal defect OMIM:615219
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Cardiomyopathy, Absent muscle fiber merosin, Reduced left ventricular ejectio... ORPHA:258
Subaortic Stenosis-Short Stature Syndrome
Membranous subvalvular aortic stenosis, Arrhythmia, Subvalvular aortic stenosis ORPHA:3191
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory failure, Respiratory insufficiency OMIM:613845
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Respiratory failure ORPHA:542323
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Thrombotic Thrombocytopenic Purpura
Arrhythmia, Myocardial infarction ORPHA:54057
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Pulmonary arterial hypertension, Hypertension OMIM:613320
Dravet Syndrome
Cyanotic episode ORPHA:33069
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion OMIM:239850
Gaucher Disease, Type Iiic
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... OMIM:231005
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure OMIM:617895
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Neonatal respiratory distress, Respiratory failure, Death in infancy, Respiratory insufficiency OMIM:608836
Restrictive Dermopathy 2
Cyanosis OMIM:619793
Agel Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Facial palsy, Cardiomyopathy ORPHA:85448
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis OMIM:250800
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Respiratory insufficiency ORPHA:159
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Flexion contracture, Cardiomegaly, Ventricular septal defect OMIM:616897
Idiopathic Pulmonary Fibrosis
Orthodeoxia, Acrocyanosis ORPHA:2032
Primary Ciliary Dyskinesia
Neonatal respiratory distress, Respiratory failure, Hydrocephalus ORPHA:244
Mitochondrial Trifunctional Protein Deficiency
Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Lower limb muscle weakness, Mi... ORPHA:746
Refsum Disease
Skeletal muscle atrophy, Cardiomyopathy, Heart block ORPHA:773
Eisenmenger Syndrome
Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Patent ductus ... ORPHA:97214
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis OMIM:610910
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
Spontaneous Periodic Hypothermia
Arrhythmia ORPHA:29822
Meckel Syndrome 14
Cardiorespiratory arrest, Holoprosencephaly, Occipital encephalocele, Cyanosis OMIM:619879
Bohring-Opitz Syndrome
Optic atrophy, Congenital contracture, Cardiomegaly, Abnormal cardiac septum morphology, Bradycar... ORPHA:97297
Methemoglobinemia And Ambiguous Genitalia
Cyanosis OMIM:250790
Noonan Syndrome 5
Hypertrophic cardiomyopathy, Arrhythmia, Atrial septal defect, Pulmonic stenosis OMIM:611553
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Bundle branch block, Atrioventricular canal defect, Abnormal pulmona... ORPHA:500
Systemic Capillary Leak Syndrome
Myocarditis, Hypotension, Arrhythmia, Pericarditis ORPHA:188
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Arrhythmia, Transposition of the great arteries, Paroxy... OMIM:617877
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Macroglossia, Lower limb muscle weakness, Hypertrophic cardiomyopathy, Transient isch... ORPHA:365
Familial Isolated Hypoparathyroidism
Arrhythmia, Myopathy ORPHA:2238
Tetrasomy 5P
Cyanosis, Hydrocephalus ORPHA:3309
Multiple Acyl-Coa Dehydrogenase Deficiency
Cardiorespiratory arrest, Respiratory failure ORPHA:26791
Pagod Syndrome
Hypoplastic left heart, Optic atrophy, Situs inversus totalis, Congenital diaphragmatic hernia, A... ORPHA:991
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure, Hydrocephalus OMIM:616538
Spinocerebellar Ataxia, Autosomal Recessive 33
Arrhythmia OMIM:620208
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cyanosis ORPHA:3304
Scedosporiosis
Respiratory failure ORPHA:449280
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory failure, Death in childhood, Death in infancy OMIM:620278
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Congestive heart failure, Myopathy, Arrhythmia, Flexion contracture, Ske... ORPHA:682
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Neonatal death, Respiratory arrest, Jaundice, Respiratory failure OMIM:617248
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Abnormal atrioventricular conduction, Congestive heart failure, Hypertrophic cardiomyopathy, Myop... ORPHA:280365
Eosinophilic Granulomatosis With Polyangiitis
Respiratory insufficiency, Cutis marmorata, Purpura, Eosinophilia, Acrocyanosis, Urticaria ORPHA:183
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomyopathy, Cardiomegaly, Arrhythmia, Abnormal myocardium morphology, Hepatomegaly, Heart block ORPHA:228308
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Respiratory insufficiency OMIM:617239
Hennekam-Beemer Syndrome
Optic atrophy, Hypotension, Camptodactyly of finger, Arrhythmia, Telangiectasia of the skin ORPHA:2135
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Mucopolysaccharidosis Type 2
Optic atrophy, Contractures of the large joints, Cardiomyopathy, Abnormal heart morphology, Decre... ORPHA:580
Alternating Hemiplegia Of Childhood
Cardiomyopathy, Abnormal T-wave, Cardiac conduction abnormality, Arrhythmia, Abnormal autonomic n... ORPHA:2131
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Hepatomegaly, Hy... OMIM:306955
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Cyanosis, Neonatal respiratory distress, Death in childhood, Death in infancy OMIM:618426
Chromosome 2Q37 Deletion Syndrome
Arrhythmia, Subvalvular aortic stenosis OMIM:600430
Juvenile Dermatomyositis
Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Myositis, Angina pe... ORPHA:93672
Autosomal Dominant Hypocalcemia
Hypotension, Optic atrophy, Arrhythmia, Congestive heart failure ORPHA:428
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly of finger, Elbow flexion contracture, Hepatosplenomegaly, Facial telangiectasia, Sp... OMIM:602782
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure ORPHA:280210
Poems Syndrome
Plethora, Papilledema, Acrocyanosis, Respiratory insufficiency due to muscle weakness ORPHA:2905
Japanese Encephalitis
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Elbow flexion contracture, Di... ORPHA:79139
Joubert Syndrome 21
Optic atrophy, Occipital encephalocele, Encephalocele, Megalopapilla, Respiratory failure OMIM:615636
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Acrocyanosis, Purpura, Urticaria ORPHA:343
Mucopolysaccharidosis Type 2, Severe Form
Optic atrophy, Macroglossia, Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morpho... ORPHA:217085
Heart-Hand Syndrome Type 2
Arrhythmia ORPHA:1350
Mercury Poisoning
Respiratory failure ORPHA:330021
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Respiratory failure OMIM:620327
Leigh Syndrome
Optic atrophy, Respiratory failure ORPHA:506
3-Methylglutaconic Aciduria Type 7
Respiratory failure ORPHA:445038
Mucopolysaccharidosis Type 2, Attenuated Form
Optic atrophy, Macroglossia, Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morpho... ORPHA:217093
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure ORPHA:88618
African Trypanosomiasis
Second degree atrioventricular block, Third degree atrioventricular block, Myelopathy, Congestive... ORPHA:3385
Gitelman Syndrome
Prominent U wave, Abnormal T-wave, Pericardial effusion, Palpitations, Rhabdomyolysis, ST segment... ORPHA:358
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis ORPHA:747
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Ischemic stroke, Cardiomegaly, Bicuspid aortic v... ORPHA:91387
Beck-Fahrner Syndrome
Cardiomegaly, Facial hypotonia, Ventricular septal defect OMIM:618798
Pulmonary Alveolar Microlithiasis
Respiratory insufficiency, Oxygen desaturation on exertion, Cyanosis, Respiratory failure, Hypoxemia ORPHA:60025
Mitochondrial Complex I Deficiency, Nuclear Type 32
Respiratory failure, Death in childhood OMIM:618252
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Pulmonary embolism, Rhabdomyolysis, Arrhythmia, Abnormal autono... ORPHA:94093
Sickle Cell Disease
Cardiomegaly, Hepatomegaly, Hypertension, Splenomegaly OMIM:603903
Aicardi-Goutieres Syndrome 1
Erythema, Petechiae, Purpura, Prolonged neonatal jaundice, Acrocyanosis OMIM:225750
Waardenburg Syndrome Type 3
Acrocyanosis ORPHA:896
Sepsis In Premature Infants
Cyanosis, Jaundice, Purpura, Petechiae ORPHA:90051
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Mitral regurgitation, Ventricular septal defect, Arrhythmia, Atrial septal ... ORPHA:254346
Ogden Syndrome
Arrhythmia, Cardiogenic shock, Torticollis, Ventricular septal defect ORPHA:276432
Legionnaires Disease
Hypotension, Splenomegaly, Arrhythmia, Myocarditis, Endocarditis, Pericarditis ORPHA:549
Choanal Atresia
Cyanosis ORPHA:137914
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Prematurely aged appearance, Cardiorespiratory arrest, Respiratory fa... ORPHA:3342
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis OMIM:619580
Truncus Arteriosus
Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morpho... ORPHA:3384
Genetic Recurrent Myoglobinuria
Proximal muscle weakness in upper limbs, Lower limb muscle weakness, Myositis, Arrhythmia, Type 2... ORPHA:99845
Familial Dysautonomia
Optic atrophy, Acrocyanosis, Orthostatic hypotension ORPHA:1764
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Acrocyanosis, Orthostatic hypotension OMIM:223900
Riddle Syndrome
Neonatal asphyxia, Erythema, Conjunctival telangiectasia, Telangiectasia, Respiratory failure ORPHA:420741
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Patent foramen ova... OMIM:300967
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Arrhythmia, Camptodactyly of finger ORPHA:3201
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis ORPHA:1867
Microscopic Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Arrhythmia, Pericar... ORPHA:727
Neurodegeneration And Seizures Due To Copper Transport Defect
Cardiomegaly, Tricuspid regurgitation, Limb hypertonia OMIM:620306
Multiple Mitochondrial Dysfunctions Syndrome 7
Cyanosis, Respiratory failure requiring assisted ventilation OMIM:620423
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Ethylene Glycol Poisoning
Facial palsy, Cyanosis ORPHA:31826
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Abnormal tendon morphology, Supravalvular aortic stenosis, Mitral regurgita... ORPHA:391665
Colchicine Poisoning
Hypotension, Cardiogenic shock, Congestive heart failure, Arrhythmia, Myocarditis, Hypovolemia ORPHA:31824
Necrotizing Enterocolitis
Cyanosis ORPHA:391673
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology ORPHA:1517
Double Outlet Right Ventricle
Cyanosis ORPHA:3426
Malignant Atrophic Papulosis
Telangiectasia of the skin, Respiratory failure ORPHA:679
Ileal Neuroendocrine Tumor
Hypotension, Cardiogenic shock, Right ventricular failure, Arterial occlusion, Palpitations, Arrh... ORPHA:100078
Steinert Myotonic Dystrophy
Abnormality of the tongue muscle, Dilated cardiomyopathy, Skeletal muscle atrophy, Distal amyotro... ORPHA:273
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Ventricular septal defect, Cardiomegaly, Overridi... OMIM:617022
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Macroglossia, Congestive heart failure, Hypertrophic cardiomyopathy, Diasta... OMIM:252500
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Splenomegaly, Aganglionic megacolon, Arrhythmia, Hepatomegaly, Arthrogryposis multiplex congenita ORPHA:163746
Tarp Syndrome
Optic atrophy, Cyanosis ORPHA:2886
Fucosidosis
Hepatomegaly, Cardiomegaly, Decreased muscle mass ORPHA:349
Scorpion Envenomation
Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Cardiac condu... ORPHA:466677
Brain-Lung-Thyroid Syndrome
Neonatal respiratory distress, Respiratory failure ORPHA:209905
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Splenomegaly, Neonatal death, Cardiomegaly, Hepatomegaly, Arthrogryposis mult... OMIM:608013
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Cyanosis ORPHA:199241
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology, Generalized amyotrophy OMIM:601162
Carney Triad
Gastrointestinal hemorrhage, Pheochromocytoma, Arrhythmia, Leiomyosarcoma, Tachycardia, Hypertens... ORPHA:139411
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Hypoplasia of the musculature, Small hypothenar eminence, Cardiomegaly, Thenar muscle atrophy, Mu... ORPHA:2463
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Death in infancy OMIM:617478
Oculodentodigital Dysplasia
Optic atrophy, Arrhythmia, Camptodactyly of finger, Ventricular septal defect ORPHA:2710
Congenital Fiber-Type Disproportion Myopathy
Intercostal muscle weakness, Respiratory insufficiency due to muscle weakness, Respiratory failur... ORPHA:2020
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Arrhythmia OMIM:273400
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Unilateral Polymicrogyria
Cyanosis, Giant somatosensory evoked potentials ORPHA:268943
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Respiratory failure ORPHA:254528
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Elbow flexion contracture, Congenital diaphragmatic hernia, Mitral valve prolapse, Patent foramen... OMIM:245600
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Respiratory failure, Death in childhood, Respiratory insufficiency OMIM:618278
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy, Arrhythmia, Hypertension, Neonatal death OMIM:614052
Bloom Syndrome
Telangiectasia, Cutaneous photosensitivity, Respiratory failure ORPHA:125
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly, Telangiectasia of the skin, Telangiectasia of the oral mucosa, Lip telangiectasia ORPHA:79280
Ogden Syndrome
Secundum atrial septal defect, Torsade de pointes, Premature atrial contractions, Supraventricula... OMIM:300855
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cardiorespiratory arrest, Cyanosis, Abnormal autonomic nervous system physiology ORPHA:293987
Congenital Tracheomalacia
Neonatal respiratory distress, Cyanosis, Respiratory insufficiency ORPHA:95430
Primary Hyperoxaluria
Arterial occlusion, Cardiomyopathy, Intermittent claudication, Raynaud phenomenon, Heart block ORPHA:416
Geleophysic Dysplasia 3
Respiratory failure OMIM:617809
Listeriosis
Jaundice, Respiratory failure, Miscarriage ORPHA:533
Carnitine Palmitoyltransferase Ii Deficiency
Cardiomyopathy, Myopathy, Rhabdomyolysis, Arrhythmia, Hepatomegaly ORPHA:157
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Peripheral dysmyelination, Decreased nerve co... OMIM:216400
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hypertrophic cardiomyopathy, Arrhythmia, Type 2 muscle fiber predominance, Skeletal muscle atrophy OMIM:615471
Cartilage-Hair Hypoplasia
Spinal dysraphism, Cardiomyopathy, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal... ORPHA:175
Radio-Renal Syndrome
Respiratory failure ORPHA:3015
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Arrhythmia ORPHA:171876
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Arrhythmia, Atrial septal defect, Patent foramen ovale OMIM:619184
Dominant Beta-Thalassemia
Hypoplasia of the musculature, Dilated cardiomyopathy, Hepatosplenomegaly, Splenomegaly, High-out... ORPHA:231226
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Peripheral dysmyelination, Decreased nerve co... OMIM:133540
Developmental And Epileptic Encephalopathy 95
Multiple joint contractures, Cardiomegaly, Hepatomegaly, Macroglossia, Arthrogryposis multiplex c... OMIM:618143
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Arrhythmia, Facial palsy ORPHA:68
Costello Syndrome
Hypertrophic cardiomyopathy, Vestibular schwannoma, Mitral valve prolapse, Ventricular septal def... OMIM:218040
Holoprosencephaly
Optic atrophy, Tetralogy of Fallot, Abnormal pulmonary valve morphology, Congenital diaphragmatic... ORPHA:2162
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Ven... OMIM:309801
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Spinal arteriovenous malformation, Nasal mucosa telangiectasia, Cyanosis, ... OMIM:610655
Crimean-Congo Hemorrhagic Fever
Epistaxis, Diffuse alveolar hemorrhage, Hypotension, Melena, Subdural hemorrhage, Subconjunctival... ORPHA:99827
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Respiratory failure, Death in infancy OMIM:300868
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Nail bed telangiectasia, Spinal arteriovenous malformation, Nasal mucosa t... OMIM:187300
Localized Scleroderma
Vasculitis, Skeletal muscle atrophy, Myopathy, Arrhythmia, Raynaud phenomenon, Flexion contracture ORPHA:90289
Beta-Thalassemia Major
Hypoplasia of the musculature, Dilated cardiomyopathy, Hepatosplenomegaly, Splenomegaly, High-out... ORPHA:231214
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Tricuspid regurgitation, Patent foramen ovale, Cardiomegaly, Vitreous hemorrhage, Limb hypertonia... OMIM:620371
Nijmegen Breakage Syndrome
Cutaneous photosensitivity, Respiratory failure ORPHA:647
Telangiectasia, Hereditary Hemorrhagic, Type 2
Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed telangiectasia... OMIM:600376
Pitt-Hopkins Syndrome
Aganglionic megacolon, Acrocyanosis ORPHA:2896
Abetalipoproteinemia
Respiratory failure ORPHA:14
Fucosidosis
Splenomegaly, Cardiomegaly, Hepatomegaly, Macroglossia, Flexion contracture, Generalized amyotrophy OMIM:230000
Kleefstra Syndrome
Tetralogy of Fallot, Ventricular septal defect, Bicuspid aortic valve, Arrhythmia, Macroglossia ORPHA:261494
Botulism
Arrhythmia ORPHA:1267
Beckwith-Wiedemann Syndrome
Pancreatic hyperplasia, Cardiomyopathy, Diastasis recti, Cardiomegaly, Hepatomegaly, Macroglossia... OMIM:130650
Hemorrhagic Fever-Renal Syndrome
Petechiae, Respiratory failure, Ecchymosis ORPHA:340
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
16P11.2P12.2 Microdeletion Syndrome
Tricuspid regurgitation, Arrhythmia, Camptodactyly of finger ORPHA:261211
Phakomatosis Pigmentokeratotica
Arrhythmia, Rhabdomyosarcoma, Raynaud phenomenon, Pheochromocytoma ORPHA:2874
Foodborne Botulism
Arrhythmia ORPHA:228371
Mgat2-Cdg
Abnormal heart morphology, Arrhythmia, Reflex asystolic syncope, Ventricular septal defect ORPHA:79329
Microphthalmia With Linear Skin Defects Syndrome
Erythema, Respiratory failure, Hydrocephalus ORPHA:2556
Myhre Syndrome
Respiratory failure, Respiratory insufficiency OMIM:139210
Tuberous Sclerosis Complex
Respiratory failure, Noncommunicating hydrocephalus, Generalized abnormality of skin ORPHA:805
Dermatomyositis
Erythema, Abnormal eosinophil morphology, Shawl sign, V-sign, Respiratory insufficiency, Facial e... ORPHA:221
Myasthenia Gravis
Acrocyanosis ORPHA:589
Fraser Syndrome 2
Respiratory failure OMIM:617666
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Spinal dysraphism, Respiratory failure, Miscarriage ORPHA:96334
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Congestive heart failure, Camptodactyly of finger, Elbow flexion contrac... OMIM:256040
Lymphedema-Distichiasis Syndrome
Tetralogy of Fallot, Arrhythmia, Ventricular septal defect OMIM:153400
Rajab Interstitial Lung Disease With Brain Calcifications 1
Respiratory failure, Respiratory insufficiency OMIM:613658
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Abnormality of the peripheral nervous system, Vasculitis in th... ORPHA:48435
Otopalatodigital Syndrome, Type Ii
Respiratory insufficiency, Hydrocephalus, Spina bifida, Stillbirth, Respiratory failure OMIM:304120
Granulomatosis With Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Cerebral ischemia, Hypertension, Angina pecto... ORPHA:900
Esophageal Atresia
Cyanosis ORPHA:1199
Ulnar-Mammary Syndrome
Arrhythmia, Aplasia of the pectoralis major muscle, Camptodactyly of finger, Ventricular septal d... ORPHA:3138
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Arrhythmia ORPHA:2878
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Arrhythmia OMIM:106300
Ear-Patella-Short Stature Syndrome
Respiratory failure ORPHA:2554
Congenital Tracheal Stenosis
Neonatal asphyxia, Cyanosis ORPHA:141127
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Arrhythmia, Camptodactyly of finger ORPHA:3220
Niemann-Pick Disease Type C
Jaundice, Respiratory failure, Respiratory insufficiency ORPHA:646
Wiskott-Aldrich Syndrome
Vasculitis, Hematochezia, Epistaxis, Recurrent intrapulmonary hemorrhage, Arrhythmia, Hematemesis... ORPHA:906
Severe Generalized Junctional Epidermolysis Bullosa
Fragile skin, Respiratory failure ORPHA:79404
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Hepatosplenomegaly, Multiple joint contractures, Cardiomegaly, Myosi... ORPHA:51
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic atrophy, Respiratory failure, Optic nerve hypoplasia ORPHA:500150
Autosomal Recessive Polycystic Kidney Disease
Jaundice, Respiratory failure ORPHA:731
Classical Ehlers-Danlos Syndrome
Poor wound healing, Bruising susceptibility, Ecchymosis, Fragile skin, Orthostatic hypotension, P... ORPHA:287
Lymphedema-Distichiasis Syndrome
Arrhythmia ORPHA:33001
Hypermobile Ehlers-Danlos Syndrome
Epistaxis, Decreased nerve conduction velocity, Mitral valve prolapse, Arrhythmia, Aplasia/Hypopl... ORPHA:285
Noonan Syndrome
Abnormal EKG, Hypertrophic cardiomyopathy, Abnormal pulmonary valve morphology, Arrhythmia, Aplas... ORPHA:648
Williams Syndrome
Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Myopathy, Bicuspid aortic... ORPHA:904
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Macroglossia, Cardiomegaly, Ventricular septal defect ORPHA:96191
Autoinflammatory Disease, Systemic, With Vasculitis
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Small vessel vasculitis OMIM:620376
Beckwith-Wiedemann Syndrome
Visceromegaly, Hypertrophic cardiomyopathy, Diastasis recti, Splenomegaly, Congenital diaphragmat... ORPHA:116
Kawasaki Disease
Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal defect without pul... ORPHA:2331
Ivic Syndrome
Arrhythmia ORPHA:2307
Hutchinson-Gilford Progeria Syndrome
Premature skin wrinkling, Prominent superficial blood vessels, Cyanosis, Generalized abnormality ... ORPHA:740
Nocardiosis
Respiratory failure ORPHA:31204
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Shoulder flexion contracture, Skeletal muscle hypertrophy, Hip contractu... ORPHA:800
Familial Mediterranean Fever
Vasculitis, Splenomegaly, Arrhythmia, Myocardial infarction, Pericarditis ORPHA:342
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Pulmonary arterial ... ORPHA:3472
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Short-segment aganglionic megacolon, Peripheral axonal neuropathy OMIM:619465
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Respiratory failure ORPHA:2636
Liver Disease, Severe Congenital
Dilatation of the ventricular cavity, Splenomegaly, Patent foramen ovale, Ventricular septal defe... OMIM:619991
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Left ventricular systolic dysfunction, Transient ischemic attack, Retina... ORPHA:51608
Oculodentodigital Dysplasia
Arrhythmia, Joint contracture of the 5th finger, Atrial septal defect OMIM:164200
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis ORPHA:99050
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Sarcoidosis
Portal hypertension, Arrhythmia, Abnormal cardiac ventricular function, Ventricular tachycardia, ... ORPHA:797
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Congestive heart failure, Muscle fiber atrophy... OMIM:182250
Specc1L-Related Hypertelorism Syndrome
Tetralogy of Fallot, Arrhythmia, Atrial septal defect, Ventricular septal defect ORPHA:1519
Shwachman-Diamond Syndrome 1
Myocardial necrosis OMIM:260400
Plague
Hypotension, Splenomegaly, Arrhythmia, Hematemesis, Hepatomegaly, Tachycardia, Endocarditis ORPHA:707
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrial septal defect OMIM:250220
Simpson-Golabi-Behmel Syndrome, Type 1
Total anomalous pulmonary venous return, Cardiomyopathy, Diastasis recti, Splenomegaly, Congenita... OMIM:312870
Ulbright-Hodes Syndrome
Respiratory failure ORPHA:3404
Coffin-Lowry Syndrome
Cutis marmorata, Acrocyanosis OMIM:303600
Goodpasture Syndrome
Cyanosis OMIM:233450
Stickler Syndrome
Macroglossia, Arrhythmia, Skeletal muscle atrophy, Mitral valve prolapse ORPHA:828
Ulnar-Mammary Syndrome
Elbow flexion contracture, Arrhythmia, Ventricular septal defect OMIM:181450
Hirschsprung Disease
Aganglionic megacolon ORPHA:388
Gastric Cancer
OMIM:613659
Lung Cancer
OMIM:211980
Ovarian Cancer
OMIM:167000

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 Erbb2

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 Erbb2.

No publications found that use IMPC mice or data for Erbb2.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Erbb2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Erbb2tm96(L1L2_st1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Erbb2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Erbb2tm96(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Erbb2tm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

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