Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance 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 Dorso Ventral

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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
Peripheral axonal neuropathy, Short-segment aganglionic megacolon 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
Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... OMIM:612158
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Cardiomyopathy, Dilated, 1U
Congestive heart failure, Left bundle branch block, Left ventricular hypertrophy, First degree at... OMIM:613694
Left Ventricular Noncompaction 1
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri... OMIM:604169
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Abnormal heart morphology, Tetralogy... OMIM:614954
Atrial Standstill 1
Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d... OMIM:108770
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Ventricular arrhythmia, Cardiomyocyte hyper... OMIM:613424
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Cardiomyopathy, Dilated, 1V
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A... OMIM:613697
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Limb-girdle muscle weakness, Peroneal muscle atrophy, Limb-girdle muscular dystrophy, Elbow flexi... OMIM:181350
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Long Qt Syndrome 16
Perimembranous ventricular septal defect, Bradycardia, Prolonged QTc interval, T-wave alternans, ... OMIM:618782
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Cardiomyopathy, Dilated, 1G
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... OMIM:604145
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Cardiomyopathy, Familial Hypertrophic, 26
Left atrial enlargement, Congestive heart failure, Left anterior fascicular block, Left bundle br... OMIM:617047
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Cardiomyopathy, Dilated, 1I
Congestive heart failure, Reduced left ventricular ejection fraction, Reduced systolic function, ... OMIM:604765
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Atrial septal defect, Reduced left ventricular ejection fraction, Prema... OMIM:620247
Congenital Myopathy 5 With Cardiomyopathy
Minicore myopathy, Congestive heart failure, Weakness of facial musculature, Calf muscle hypertro... OMIM:611705
Congenital Heart Block
Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Patent foramen oval... ORPHA:60041
Worster-Drought Syndrome
Abnormal cranial nerve morphology ORPHA:3465
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology, Decreased motor nerve conduction velocity, Hypertrophic nerve c... DECIPHER:29
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Atrial Standstill
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu... ORPHA:1344
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc... OMIM:115200
Glossopharyngeal Neuralgia
Abnormal glossopharyngeal nerve morphology, Bradycardia, Cranial nerve compression, Jaw claudicat... ORPHA:221098
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitations, Sudden cardiac d... OMIM:610476
Left Ventricular Noncompaction 10
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... OMIM:615396
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Type 1 muscle... OMIM:310300
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Cardiomyopathy, Familial Hypertrophic, 4
Congestive heart failure, Ventricular septal hypertrophy, Muscular ventricular septal defect, Lef... OMIM:115197
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Benign Schwannoma
Abnormality of the twelfth cranial nerve, Peripheral schwannoma, Abnormal cranial nerve morpholog... ORPHA:252164
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop... ORPHA:168796
Atrial Septal Defect, Sinus Venosus Type
Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra... ORPHA:99105
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card... OMIM:611819
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
First degree atrioventricular block, Right ventricular dilatation, Ventricular tachycardia, Left ... OMIM:615616
Myopathy, Myofibrillar, 1
Bradycardia, Restrictive cardiomyopathy, Facial palsy, EMG: myopathic abnormalities, Hypertrophic... OMIM:601419
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Distal amyotrophy, Hand muscle weakness, Hand muscle atrophy, Weakness of facial musculature, Abn... OMIM:607641
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ... OMIM:613642
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function OMIM:609909
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Systolic anterior motion of the mitral valve, Reduced left ventricular endsystolic diameter, Left... OMIM:620236
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Spinal Muscular Atrophy, Segmental
Segmental spinal muscular atrophy, Hand muscle atrophy, Abnormal anterior horn cell morphology OMIM:183020
Progressive Familial Heart Block, Type Ii
Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc... OMIM:140400
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Reduced left ventricular ejection... ORPHA:85451
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Peripheral hypomyelination, Abnormal cranial nerve morphology, Distal amyotrophy, Upper limb musc... OMIM:605253
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Burning Mouth Syndrome
Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials ORPHA:353253
Danon Disease
Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiomegaly, Lower limb amyotrophy, At... OMIM:300257
Ethanolaminosis
Cardiomegaly OMIM:227150
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Reduced left ventricular... OMIM:608751
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Abnormal cardiac septum morphology, Bundle branch block, Arrhythmia ORPHA:1479
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology, Abnormal heart morphology ORPHA:91412
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat... ORPHA:99106
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Cardiomyopathy, Dilated, 2D
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Patent foramen ov... OMIM:619371
Cardiomyopathy, Familial Restrictive, 3
Reduced left ventricular ejection fraction, Abnormal ST segment, Myocardial sarcomeric disarray, ... OMIM:612422
Congenital Myopathy 24
Facial palsy, Cardiomyopathy, Nemaline bodies, Scapular winging, First degree atrioventricular bl... OMIM:617336
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi... ORPHA:45453
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left anterior fascicular block, Left posterior fas... OMIM:113900
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Attrv30M Amyloidosis
Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia ORPHA:85447
Desminopathy
Congestive heart failure, Distal lower limb muscle weakness, Concentric hypertrophic cardiomyopat... ORPHA:98909
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Heart block, Cardiomyopathy, Weakness of the intrinsic h... ORPHA:98912
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... OMIM:618052
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Brugada Syndrome 2
Right bundle branch block, Ventricular fibrillation, Prolonged PR interval, Syncope, First degree... OMIM:611777
Timothy Syndrome
Prolonged QT interval, Cardiomegaly, Bradycardia, Patent foramen ovale, Pulmonary arterial hypert... OMIM:601005
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Arrhythmia, Abnormal heart morphology, Discordant atr... ORPHA:216694
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... OMIM:608567
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Bidirectional shunt, Muscular ven... ORPHA:439
Nemaline Myopathy 8
Respiratory failure, Facial palsy, Death in infancy OMIM:615348
Glioma Susceptibility 1
Astrocytoma, Ependymoma, Glioblastoma multiforme OMIM:137800
Muscular Dystrophy, Becker Type
Muscular dystrophy, Calf muscle pseudohypertrophy, Cardiomyopathy, Arrhythmia, Abnormal EKG OMIM:300376
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... OMIM:613838
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:253300
Cardiomyopathy, Dilated, 1Dd
Congestive heart failure, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden c... OMIM:613172
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory failure, Respiratory insufficiency due to muscle weakness, Death in adolescence OMIM:300717
Cardiomyopathy, Familial Hypertrophic, 28
Systolic anterior motion of the mitral valve, Left atrial enlargement, Reduced left ventricular e... OMIM:619402
Leber Hereditary Optic Neuropathy
Optic atrophy, Retinal telangiectasia, Arrhythmia, Ventricular preexcitation, Myopathy ORPHA:104
Cardiomyopathy, Dilated, 2G
Left atrial enlargement, Aortic regurgitation, Paroxysmal ventricular tachycardia, Myocardial sar... OMIM:619897
Atrioventricular Dissociation
Congenital atrioventricular dissociation OMIM:209600
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Congestive heart failure, Displacement of the papillary muscl... ORPHA:1329
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Arnold-Chiari Malformation Type I
Abnormality of the vestibulocochlear nerve, Abnormality of the twelfth cranial nerve, Abnormality... 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 insufficiency, Respiratory failure, Death in infancy OMIM:613869
Cardiomyopathy, Dilated, 1Bb
Congestive heart failure, Left bundle branch block, Severely reduced left ventricular ejection fr... OMIM:612877
Long Qt Syndrome 14
2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card... OMIM:616247
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Axonal degeneration, Abnormal cranial... OMIM:601596
Atrial Fibrillation, Familial, 15
Left atrial enlargement, Atrial flutter, Atrial fibrillation, Supraventricular tachycardia, Sudde... OMIM:615770
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Atrial fibrillation, Ventricular hypertrophy, Hypertrophic cardio... OMIM:613690
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Cardiomegaly, Reduced left ventricular ejection fraction, Abnorma... ORPHA:1677
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric... ORPHA:99103
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Atrioventricular canal defect, Ventricular septal defect, Patent ... ORPHA:392
Amyotrophic Lateral Sclerosis 4, Juvenile
Decreased compound muscle action potential amplitude, Axonal degeneration, Pallor of dorsal colum... OMIM:602433
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ... OMIM:608758
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria
Abnormal cranial nerve morphology, Abnormal mitochondria in muscle tissue OMIM:258470
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:611722
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P... OMIM:613980
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Ragged-red muscle fibers, Hypertrophic cardiomyopathy, Abnormal mitochondria in mu... OMIM:252011
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ... OMIM:611528
Atrial Fibrillation, Familial, 6
Left atrial enlargement, Reduced left ventricular ejection fraction, Atrial fibrillation, Elevate... OMIM:612201
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Ventricular fibrillation, Poly... OMIM:115000
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:98855
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Bilateral Polymicrogyria
Facial diplegia, Abnormal glossopharyngeal nerve morphology, Abnormality of masticatory muscle, A... ORPHA:268940
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:616081
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular septal hypertrophy, Palpitations, ST segment elevation, Right bundle branch block, Ca... ORPHA:263297
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:610193
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Reduced left ventricular endsysto... OMIM:612124
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Long Qt Syndrome 2
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril... OMIM:613688
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Facial diplegia, Paucity of anterior horn motor neurons, ... OMIM:611890
Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:98853
Loeffler Endocarditis
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Aortic regurgitation, Pa... ORPHA:75566
Coronary Arterial Fistula
Congestive heart failure, Bicuspid aortic valve, Atrial septal defect, Cardiomegaly, Tachycardia,... ORPHA:2041
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Acrocyanosis OMIM:302000
Wolff-Parkinson-White Syndrome
Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu... OMIM:194200
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Muscular dystrophy, Atrial flutter, Heart block, Atrial fibrillation, S... ORPHA:300751
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology ORPHA:137596
Tick-Borne Encephalitis
Abnormal glossopharyngeal nerve morphology, Myelitis, Abnormal cranial nerve morphology, Polyneur... ORPHA:297
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Hand muscle atrophy, Skeletal muscle atrophy, Arrhythmia, Pe... ORPHA:99944
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:613873
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Congestive heart failure, Bicuspid aortic valve, Atrioventricular... ORPHA:3092
Heart Block, Congenital
Absent atrioventricular node, Cardiomyopathy, Atrial arrhythmia, Myocardial fibrosis, Atrioventri... OMIM:234700
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula... OMIM:618920
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure, Amyotrophic lateral sclerosis OMIM:613435
Long Qt Syndrome 6
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c... OMIM:613693
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Respiratory failure, Abnormal seventh cranial... ORPHA:90117
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscular dystrophy, Muscle fiber necrosis, Limb muscle weakness, Limb-girdle muscle weakness, Cen... OMIM:616812
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Atrial Septal Defect 1
Atrial septal dilatation, Aortic valve stenosis, Tetralogy of Fallot with pulmonary atresia, Secu... OMIM:108800
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Secundum atrial septal defect, Tetralogy of Fallot, Subvalvular aortic steno... OMIM:108900
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Third degree atrioventricular block, Skeletal muscle atrophy ORPHA:480
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Premature atr... OMIM:611493
Congenital Gerbode Defect
Congestive heart failure, Perimembranous ventricular septal defect, Abnormal tricuspid valve leaf... ORPHA:99095
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal upper limb amyotrophy, Decreased cervical spine flexion due to contractures of posterior... ORPHA:98863
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy, Respiratory failure, Neonatal respiratory distress OMIM:619057
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop... ORPHA:3286
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ... OMIM:613251
Arterial Calcification, Generalized, Of Infancy, 2
Congestive heart failure, Reduced left ventricular ejection fraction, Sinus tachycardia, Hyperten... OMIM:614473
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... OMIM:609040
Tropical Endomyocardial Fibrosis
Left atrial enlargement, P pulmonale, Abnormal ST segment, Prolonged QRS complex, Cardiomegaly, P... ORPHA:75565
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Hepatomegaly, Patent foramen ovale, Tricuspid regurgitatio... OMIM:619167
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal motor neuron morphology, Sensory axonal neuropathy, Rimmed vacuoles, Cardiomyopathy, EMG... ORPHA:52430
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613876
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Heart block, Bundle branch block, Arrhythmia, Syncope ORPHA:871
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Left atrial enlargement, Restrictive cardiomyopathy, Facial palsy, Hypertrophic cardiomyopathy, R... OMIM:619424
Familial Isolated Restrictive Cardiomyopathy
Left atrial enlargement, Atrial fibrillation, Supraventricular arrhythmia, Tricuspid regurgitatio... ORPHA:75249
Cardiomyopathy, Dilated, 1Nn
Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri... OMIM:615916
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy... OMIM:614096
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Renal Hypodysplasia/Aplasia 4
Respiratory failure OMIM:619887
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Scapular winging, Cardiomyopathy, Increased variability in muscle fiber diame... OMIM:612999
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:612577
Cardiomyopathy, Dilated, 1Kk
Congestive heart failure, Ventricular septal hypertrophy, Atrial fibrillation, Hypertrophic cardi... OMIM:615248
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Congestive heart failure, Abnormal Z disk morphology... OMIM:618654
Carnitine-Acylcarnitine Translocase Deficiency
Bradycardia, Ventricular hypertrophy, Cardiac arrest, Cardiomyopathy, Hypotension, Premature vent... OMIM:212138
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Premature ventricular contraction, Ventricular fibrillation, Syncope, Ventricular... OMIM:614916
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Distal amyotrophy, Spinal muscular atrophy, Scapuloperoneal amyotrophy, Abnormal lower motor neur... OMIM:611067
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Limb hypertonia, Perimembranous ventricular septal defect, Optic disc pallor OMIM:619170
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Congestive heart failure, Abnormal heart valve morphology, Hypertension, Hypertrophic cardiomyopa... ORPHA:1345
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Romano-Ward Syndrome
Torsade de pointes, Prolonged QTc interval, Abnormal autonomic nervous system physiology, Sinus b... ORPHA:101016
Neonatal Lupus Erythematosus
Heart block, Prolonged QT interval, Abnormal heart morphology, Arrhythmia, Atrioventricular block... ORPHA:398124
Familial Isolated Dilated Cardiomyopathy
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... ORPHA:154
Myopathy, X-Linked, With Postural Muscle Atrophy
Skeletal muscle hypertrophy, Rimmed vacuoles, Scapular winging, EMG: myopathic abnormalities, Hyp... OMIM:300696
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Cardiomegaly, Paroxysmal ventricular ... OMIM:601214
Atrial Septal Defect, Coronary Sinus Type
Presyncope, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Transient ische... ORPHA:99104
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Respiratory failure, Facial palsy, Abnormal motor nerve conduction vel... OMIM:614399
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Optic disc pallor, Death in infancy OMIM:618240
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Left atrial enlargement, Atrial flutter, Bradycardia, Permanent a... OMIM:614022
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal left ventricle morphology, Abnormal ST segment, Arrhythmia, Ab... ORPHA:1055
Long Qt Syndrome 9
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... OMIM:611818
Supravalvular Aortic Stenosis
Angina pectoris, Hypertension, Systolic heart murmur, Arrhythmia, Syncope, Supravalvular aortic s... ORPHA:3193
Chronic Atrial And Intestinal Dysrhythmia
Left atrial enlargement, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, P... OMIM:616201
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... OMIM:613243
Muscle Filaminopathy
Muscle fiber splitting, Abnormality of masticatory muscle, Weakness of facial musculature, Right ... ORPHA:171445
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Congestive heart failure, Fourth heart sound, Left atrial enl... ORPHA:57777
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular... OMIM:615441
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Prolonged QT interval, Patent foramen ovale, Ventricular fibrillation, Peri... ORPHA:26793
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes OMIM:220400
Pulmonary Hypertension, Primary, 4
Elevated pulmonary artery pressure, Atrial flutter, Pulmonary arterial hypertension with lack of ... OMIM:615344
Muscular Dystrophy, Congenital, 1B
Respiratory failure, Facial palsy OMIM:604801
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Vacterl Association With Hydrocephalus
Stillbirth, Aqueductal stenosis, Respiratory insufficiency, Hydrocephalus, Respiratory failure OMIM:276950
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal QRS complex, Reduced left ventricular ejection fra... ORPHA:45452
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Congestive heart failure, Abnormal ventriculoarterial connection, Hepatomeg... ORPHA:860
Cardiomyopathy, Familial Hypertrophic, 2
Ventricular septal hypertrophy, Reduced left ventricular ejection fraction, Angina pectoris, Atri... OMIM:115195
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Bradycardia, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly OMIM:614702
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Peripheral axonal neuropathy, Neurogenic bladder, Orthost... OMIM:263570
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Congestive heart failure, Patent ductus arteriosus, Atrial fibri... ORPHA:1880
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Spa... OMIM:606353
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Reduced left ventricular ejection fraction, Calf muscle ... ORPHA:268
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Camptodactyly, Arrhythmia OMIM:618453
Hirschsprung Disease, Susceptibility To, 3
Long-segment aganglionic megacolon, Aganglionic megacolon, Total colonic aganglionosis OMIM:613711
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory failure, Respiratory insufficiency due to muscle weakness, Abnormal lower motor neuro... ORPHA:2590
Glycogen Storage Disease Xv
Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Scapular win... OMIM:613507
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
Hepatomegaly, Abnormal cardiovascular system physiology, Elevated jugular venous pressure, Pulmon... ORPHA:422
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Wild Type Abeta2M Amyloidosis
Congestive heart failure, Gastrointestinal hemorrhage, Decreased nerve conduction velocity, Abnor... ORPHA:85446
Long Qt Syndrome 1
Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy... OMIM:192500
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud... OMIM:609620
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... OMIM:613426
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Cardiomyopathy, Dilated, 2F
Congestive heart failure, Increased left ventricular end-diastolic volume, Ventricular fibrillati... OMIM:619747
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Arrhythmia OMIM:616198
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Hypertrophic card... OMIM:617228
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ... OMIM:612240
Amyotrophic Lateral Sclerosis 21
Distal lower limb muscle weakness, Decreased nerve conduction velocity, Abnormal upper motor neur... OMIM:606070
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory insufficiency, Respiratory failure ORPHA:266
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Sick sinus syndrome, Bradycardia, Patent foramen ovale, Ventricular escape rhythm, Arrhythmia, Pr... ORPHA:542306
Amyotrophic Lateral Sclerosis 28
Respiratory failure OMIM:620452
Congenital-Onset Steinert Myotonic Dystrophy
Facial hypotonia, Bundle branch block, Patent ductus arteriosus, First degree atrioventricular bl... ORPHA:589821
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Hypertension, Ventricular septal defect, Pulmonary arterial hypertension, L... OMIM:615474
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Pulmonary arterial hypertension, Patent ductus arteriosus, Overriding aorta, Ventri... OMIM:617021
Immunodeficiency 95
Respiratory failure OMIM:619773
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:617222
Brugada Syndrome 9
Presyncope, ST segment elevation, Prolonged QT interval, Palpitations OMIM:616399
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Congestive heart failure, Cardiac arrest, Paroxysmal atrial tachycardia, Atrial se... ORPHA:49827
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Left ventricular systolic dysfunction, Calf muscle hypertrophy, Right bundle branch block, Scapul... ORPHA:206559
Arthrogryposis Multiplex Congenita 6
Respiratory failure, Death in childhood, Neonatal death, Death in infancy OMIM:619334
Progressive Multifocal Leukoencephalopathy
Abnormal astrocyte morphology, Abnormal oligodendroglia morphology ORPHA:217260
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
Long Qt Syndrome 5
Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,... OMIM:613695
Familial Atrial Myxoma
Congestive heart failure, Bacterial endocarditis, Cardiac myxoma, Tricuspid regurgitation, Pulmon... ORPHA:615
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Situs inversus totalis, Cardiomyopathy, Arrhythmia, Atrial septal defect, Ventricu... OMIM:249270
Congenital Myopathy 14
Respiratory failure, Respiratory insufficiency due to muscle weakness, Death in infancy OMIM:618414
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Joint contracture of the 5th finger, Bradycardia OMIM:614407
Perching Syndrome
Cyanosis OMIM:617055
Hepatic Veno-Occlusive Disease
Respiratory failure, Jaundice ORPHA:890
Propionic Acidemia
Hepatomegaly, Cardiomyopathy, Arrhythmia ORPHA:35
Phosphoserine Aminotransferase Deficiency
Cyanotic episode, Death in infancy OMIM:610992
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Congestive heart failure, Fourth heart sound, Muscle fiber hyaline bodies, Type 1 muscle fiber pr... OMIM:255160
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Hypertension, Ventricular hypertrophy, Pulmonary arterial hypertension, Epistaxis, Intracranial h... ORPHA:369929
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ... OMIM:612347
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Hypertension,... OMIM:540000
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal muscle atrophy 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
Congestive heart failure, Aortic regurgitation, Cardiomegaly, Tricuspid regurgitation, Premature ... OMIM:620066
Brugada Syndrome 3
J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi... OMIM:611875
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Respiratory failure, Facial palsy ORPHA:370968
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Proximal muscle weakness in upper limbs, Type 1 muscle fiber predominance, Limb muscle weakness, ... 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
Congestive heart failure, Hepatomegaly, Bradycardia, Atrial fibrillation, Abnormal autonomic nerv... ORPHA:330001
Long-Olsen-Distelmaier Syndrome
Congestive heart failure, Optic nerve hypoplasia, Secundum atrial septal defect, Severely reduced... OMIM:620609
Ebstein Anomaly
Atrial fibrillation, Right bundle branch block, Ebstein anomaly of the tricuspid valve, Ventricul... OMIM:224700
Familial Atrial Fibrillation
Atrial fibrillation, Palpitations, Syncope, Myocardial infarction ORPHA:334
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Interstitial Pneumonitis, Desquamative, Familial
Respiratory failure, Cyanosis OMIM:263000
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Neuralgic Amyotrophy
Respiratory insufficiency, Acrocyanosis ORPHA:2901
Pontocerebellar Hypoplasia Type 1
Optic atrophy, Respiratory failure, Degeneration of anterior horn cells ORPHA:2254
Intermediate Nemaline Myopathy
Respiratory failure, Facial diplegia, Facial palsy ORPHA:171433
Neuromyelitis Optica Spectrum Disorder
Respiratory failure, Myelitis ORPHA:71211
Dystonia 23
Torticollis, Arrhythmia OMIM:614860
Amyotrophic Lateral Sclerosis 5, Juvenile
Distal amyotrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Naxos Disease
Congestive heart failure, Paroxysmal ventricular tachycardia, Cardiomyopathy, Arrhythmia, Sudden ... ORPHA:34217
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Developmental And Epileptic Encephalopathy 101
Limb joint contracture, Third degree atrioventricular block, Bradycardia OMIM:619814
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Hypertension, Mitral valve prolapse, Atrioventricular block, Atrial septal... ORPHA:371428
Familial Multiple Nevi Flammei
Abnormal cranial nerve morphology, Pulmonary embolism, Intracranial hemorrhage, Arrhythmia ORPHA:624
Mitochondrial Dna Depletion Syndrome 11
Ragged-red muscle fibers, Facial palsy, Generalized amyotrophy, Proximal amyotrophy, Arrhythmia, ... OMIM:615084
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Tric... ORPHA:555874
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Atrial flutter, Abnormal tricuspid valve morphology, Angina pectoris, Bact... ORPHA:1330
Ceroid Lipofuscinosis, Neuronal, 10
Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:610127
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Camptodactyly of finger, Decreased nerve conduction velocity, Arrhythmia ORPHA:2928
Hemochromatosis, Type 2A
Congestive heart failure, Hepatomegaly, Cardiomyopathy, Splenomegaly, Arrhythmia, Dilated cardiom... OMIM:602390
Infantile Refsum Disease
Optic atrophy, Hepatomegaly, Facial palsy, Cardiomyopathy, Arrhythmia ORPHA:772
Long Qt Syndrome 12
Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes OMIM:612955
Long Qt Syndrome 8
Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card... OMIM:618447
Short Qt Syndrome 7
Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death OMIM:620231
Adams-Oliver Syndrome 5
Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Pulmonic stenosi... OMIM:616028
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Skeletal muscle atrophy ORPHA:247604
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal peripheral nerve morphology by anatomical site, Axonal degeneration, Camptodactyly, Abno... ORPHA:88628
Long Qt Syndrome 3
Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop... OMIM:603830
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Abnormal peripheral myelination, Abnormality of peripheral nerve conduction, Skeletal muscle atro... ORPHA:168563
Mitochondrial Complex I Deficiency, Nuclear Type 39
Cardiomegaly, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrophic cardio... OMIM:620135
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in childhood, Respiratory insufficiency, Death in infancy, Neonatal death, Respiratory fail... OMIM:245400
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Left ventricular systolic dysfunction, Ventricular bigeminy, Patent foramen ovale, Tricuspid regu... OMIM:620519
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Pulmonary insufficiency, Aortic regurgitation, Tricuspid regurgitation, Right atrial enlargement,... ORPHA:555877
Interatrial Communication
Congestive heart failure, Atrial septal defect, Atrial flutter, Sinus venosus atrial septal defec... ORPHA:1478
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Respiratory failure, Death in infancy OMIM:616277
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia ORPHA:40366
Histiocytoid Cardiomyopathy
Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Cardiomegaly, Atrial fi... ORPHA:137675
Breath-Holding Spells
Cyanosis OMIM:607578
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy, Hepatomegaly OMIM:600649
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure ORPHA:1832
Leber Optic Atrophy
Optic atrophy, Myopathy, Optic neuropathy, Arrhythmia OMIM:535000
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval OMIM:615378
Jervell And Lange-Nielsen Syndrome
Prolonged QTc interval, Ventricular fibrillation, Arrhythmia, Syncope, Torsade de pointes ORPHA:90647
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Respiratory failure, Ventilator dependence with inability to wean, Res... ORPHA:254875
Spondylometaphyseal Dysplasia, X-Linked
Respiratory insufficiency, Respiratory failure OMIM:313420
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Myotonic Dystrophy 1
Atrial fibrillation, First degree atrioventricular block, Atrial flutter, Facial diplegia OMIM:160900
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Reduced left ventricular ejection fraction, Tricuspid regurgitation, Hypert... OMIM:616501
Multiple Mitochondrial Dysfunctions Syndrome 3
Respiratory insufficiency, Respiratory failure, Optic atrophy OMIM:615330
Peripartum Cardiomyopathy
Left atrial enlargement, Sinus tachycardia, Hypertension, Left ventricular hypertrophy, Heart mur... ORPHA:563
Postsynaptic Congenital Myasthenic Syndromes
Respiratory failure, Cyanosis, Facial palsy ORPHA:98913
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Muscular dystrophy, Elbow flexion contracture, Generalized amyotrophy, Joint contracture, Arrhythmia OMIM:616516
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Abnormal anterior horn cell morphology, Inflammatory myopathy, Weaknes... ORPHA:1145
Atrial Standstill 2
Bradycardia, Cardiomyopathy, Atrial arrhythmia, Dilatation of the ventricular cavity, Absent P wa... OMIM:615745
Cardiac Valvular Dysplasia 2
Pulmonary insufficiency, Aortic regurgitation, Palpitations, Tricuspid regurgitation, Dysplastic ... OMIM:620067
Neuropathy, Congenital Hypomyelinating, 3
Respiratory insufficiency, Facial diplegia, Decreased motor nerve conduction velocity, Neonatal d... OMIM:618186
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Enlarged kidney, Bradycardia, ST segment elevation, Cardiomyopathy, Hyp... OMIM:261740
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Arrhythmia, Cardiomyopathy, Third degree atrioventricular block OMIM:530000
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal death, Respiratory failure, Neonatal respiratory distress, Cyanosis OMIM:265120
Hyperekplexia 4
Respiratory failure OMIM:618011
Non-Functioning Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Crani... ORPHA:94080
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Degeneration of anterior horn cells, Respiratory failure, Ventilator dependence with inability to... OMIM:604320
Short Qt Syndrome 2
Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde... OMIM:609621
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory insufficiency, Respiratory failure, Optic atrophy, Death in infancy OMIM:614299
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Cardiac arrest, Abnormal autonomic nervous system physiology, Arrhythmia ORPHA:168593
Brugada Syndrome 6
ST segment elevation, Cardiac arrest, Ventricular fibrillation OMIM:613119
Leigh Syndrome
Respiratory insufficiency, Respiratory failure, Optic atrophy OMIM:256000
Mitochondrial Phosphate Carrier Deficiency
Respiratory insufficiency, Cyanosis OMIM:610773
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Death in infancy, Neonatal death, Facial paralysis, Respiratory failure OMIM:605711
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Abnormal atrioventricular conduction, Cardiomyopathy, Limb muscle weakness, Skeletal muscle atrop... 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, Congestive heart failure, Cardiomyopathy, Limb muscle weakness, Cardiomegaly OMIM:619259
Pelizaeus-Merzbacher Disease
Reduction of oligodendroglia OMIM:312080
Lyme Disease
Atrioventricular block, Arrhythmia ORPHA:91546
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis ORPHA:91130
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:105550
Fabry Disease
Abnormal endocardium morphology, Congestive heart failure, Abnormal aortic valve morphology, Angi... ORPHA:324
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Bacterial endocarditis, Heart block, Premature ventricular contraction ORPHA:1964
Chronic Thromboembolic Pulmonary Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Right bundle branch block, Pul... ORPHA:70591
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Petechiae, Respiratory failure, Purpura, Vasculitis in the skin OMIM:620296
Chiari Malformation Type Ii
Syringomyelia, Cervical myelopathy, Hydrocephalus, Myelomeningocele, Spina bifida, Cyanosis OMIM:207950
Scimitar Syndrome
Congestive heart failure, Abnormal hemidiaphragm morphology, Heart block, Tricuspid atresia, Dext... ORPHA:185
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy OMIM:619386
Brugada Syndrome 7
Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Idiopathic Pulmonary Arterial Hypertension
Elevated pulmonary artery pressure, Congestive heart failure, Pulmonary arterial hypertension, Tr... ORPHA:275766
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Cardiomyopathy, Arrhythmia ORPHA:3222
Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Motor axonal neuropathy, Atrophy of the spinal cord, Cerv... ORPHA:35689
Refsum Disease, Classic
Congestive heart failure, Cardiomyopathy, Limb muscle weakness, Arrhythmia, Cardiomegaly 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
Myocarditis, Congestive heart failure, Aganglionic megacolon, Hepatomegaly, Cardiomyopathy, Splen... ORPHA:3386
Fabry Disease
Congestive heart failure, Ventricular septal hypertrophy, Angina pectoris, Hypertension, Transien... OMIM:301500
Carnitine Deficiency, Systemic Primary
Congestive heart failure, Hepatomegaly, Reduced muscle carnitine level, Cardiomyopathy, Hypertrop... OMIM:212140
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis ORPHA:71277
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Infant Acute Respiratory Distress Syndrome
Respiratory failure, Hypoxemia, Cyanosis ORPHA:70587
Triosephosphate Isomerase Deficiency
Jaundice, Respiratory insufficiency, Death in adolescence, Death in infancy, Prolonged neonatal j... OMIM:615512
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Respiratory failure, Neonatal respiratory distress OMIM:616867
Isolated Succinate-Coq Reductase Deficiency
Abnormal atrioventricular conduction, Knee flexion contracture, Noncompaction cardiomyopathy, Dis... ORPHA:3208
Congenital Muscular Dystrophy Due To Lmna Mutation
Congestive heart failure, Skeletal muscle atrophy, Flexion contracture, Arrhythmia, Myopathy ORPHA:157973
Cardiomyopathy, Dilated, 1Y
Congestive heart failure, Increased left ventricular end-diastolic volume, Atrial fibrillation, E... OMIM:611878
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Pericardial effusion, Endocardial fibroelastosis, Restrictive cardiomyopathy, Right atrial enlarg... OMIM:619313
Symmetrical Thalamic Calcifications
Arrhythmia ORPHA:1314
Muscular Dystrophy, Duchenne Type
Congestive heart failure, Muscular dystrophy, Knee flexion contracture, Calf muscle pseudohypertr... OMIM:310200
Cardiac Diverticulum
Premature ventricular contraction, Aortic valve stenosis, Abnormal heart morphology, Mitral valve... ORPHA:1686
Hemochromatosis, Type 1
Congestive heart failure, Hepatomegaly, Cardiomyopathy, Splenomegaly, Arrhythmia, Cardiomegaly, T... OMIM:235200
Aorta Coarctation
Congestive heart failure, Perimembranous ventricular septal defect, Cardiomegaly, Aortic valve at... ORPHA:1457
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Skeletal muscle hypertrophy, Ventricular hypertrophy, Cardiomyopathy, Hy... OMIM:300280
Congenital Aortic Valve Stenosis
Reduced left ventricular ejection fraction, Aortic valve atresia, Angina pectoris, Aortic valve c... ORPHA:3093
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Congestive heart failure, Atrial flutter, Abnormal atrioventricular valve morphology, Tricuspid r... ORPHA:324410
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Spinocerebellar Ataxia Type 1
Optic atrophy, Respiratory failure, Abnormality of somatosensory evoked potentials, Abnormal nerv... ORPHA:98755
Hsd10 Disease, Infantile Type
Optic atrophy, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Polyvalvular Heart Disease Syndrome
Abnormal heart valve morphology, Tricuspid regurgitation, Pulmonic stenosis, Aortic valve stenosi... ORPHA:228410
Isolated Atp Synthase Deficiency
Optic atrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Arrhythmia, Dilated cardiomyopathy ORPHA:254913
Polymyositis
Abnormal atrioventricular conduction, Congestive heart failure, Gastrointestinal hemorrhage, Vasc... ORPHA:732
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Peripheral demyelination, Axonal loss OMIM:221770
Amyotrophic Lateral Sclerosis 2, Juvenile
Retrocollis, Abnormal upper motor neuron morphology, Distal amyotrophy, Spasticity of facial musc... OMIM:205100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Respiratory failure, Facial palsy OMIM:606612
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Death in childhood, Optic disc pallor OMIM:615838
Frontotemporal Dementia With Motor Neuron Disease
Abnormal upper motor neuron morphology, Generalized amyotrophy, Abnormal lower motor neuron morph... ORPHA:275872
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Hypertension, Aortopulmonary window, Abnor... ORPHA:2299
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Pulmonary arterial... OMIM:619051
Infantile Sialic Acid Storage Disease
Cardiomegaly, Congestive heart failure, Hepatomegaly, Splenomegaly OMIM:269920
Congenital Neuronal Ceroid Lipofuscinosis
Respiratory failure, Neonatal respiratory distress ORPHA:168486
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly, Pulmonary arterial hypertension OMIM:619064
Al Amyloidosis
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal cardiac ventricle morphology, Monoclonal ligh... ORPHA:85443
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Aganglionic megacolon, Prolonged QT interval, 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
Stillbirth, Death in childhood, Death in infancy, Neonatal death, Respiratory failure OMIM:614922
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Respiratory failure OMIM:616505
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Arrhythmia, Sudden cardiac death ORPHA:156
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Abnormal cardiac septum morphology ORPHA:93941
Asbestos Intoxication
Respiratory failure, Hypoxemia, Cyanosis, Oxygen desaturation on exertion ORPHA:2302
Amyloidosis, Hereditary, Transthyretin-Related
Peripheral axonal neuropathy, Cardiomyopathy, Abnormal autonomic nervous system physiology, Ortho... OMIM:105210
Pneumocystosis
Respiratory failure requiring assisted ventilation, Respiratory failure, Hypoxemia, Respiratory i... ORPHA:723
Ciliary Dyskinesia, Primary, 5
Respiratory failure, Neonatal respiratory distress, Respiratory insufficiency due to defective ci... OMIM:608647
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy OMIM:610678
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Tricuspid regurgitation, Cardiomegaly, Atrial septal defect, Ventricular se... OMIM:618652
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Communicating hydrocephalus ORPHA:1861
Hereditary Motor And Sensory Neuropathy, Type Iic
Respiratory failure, Intercostal muscle weakness, Decreased distal sensory nerve action potential OMIM:606071
Mucopolysaccharidosis Type 3
Abnormal aortic valve morphology, Cardiomegaly, Reduced left ventricular ejection fraction, Abnor... ORPHA:581
Niemann-Pick Disease, Type C2
Death in childhood, Jaundice, Respiratory insufficiency, Death in infancy, Prolonged neonatal jau... OMIM:607625
Hemochromatosis, Type 4
Hepatomegaly, Cardiomyopathy, Arrhythmia OMIM:606069
Liddle Syndrome
Hypertension, Cerebral ischemia, Arrhythmia ORPHA:526
Immunodeficiency 54
Respiratory insufficiency, Respiratory failure OMIM:609981
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Arrhythmia ORPHA:1808
Cardiogenic Shock
Congestive heart failure, Abnormal left ventricular function, Hepatomegaly, Low-output congestive... ORPHA:97292
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Atrophoderma Vermiculata
Heart block ORPHA:79100
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Neonatal death, Skeletal muscle atrophy, Paucity of anterior horn ... OMIM:253310
Pyruvate Dehydrogenase E1-Alpha Deficiency
Respiratory failure OMIM:312170
Mulibrey Nanism
Congestive heart failure, Hepatomegaly, Pericardial constriction, Myocardial fibrosis, Cardiomegaly OMIM:253250
Ullrich Congenital Muscular Dystrophy
Respiratory failure ORPHA:75840
Tricuspid Atresia
Cyanosis ORPHA:1209
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure ORPHA:70472
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Respiratory failure ORPHA:363400
Dk1-Cdg
Congestive heart failure, Cardiomyocyte hypertrophy, Interstitial cardiac fibrosis, Arrhythmia, D... ORPHA:91131
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Distal arthrogryposis, Arrhythmia, Cardiomegaly, Myopathy ORPHA:42
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Congestive heart failure, Abnormal aortic valve morphology, Hepatomegaly, Hypertrophic cardiomyop... ORPHA:1194
Sporadic Pheochromocytoma/Secreting Paraganglioma
Congestive heart failure, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Hypertension a... ORPHA:276621
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Bradycardia, Ragged-red muscle fibers, Sensory axonal neuropathy, Cardiomyopathy, EMG: myopathic ... OMIM:609286
Surfactant Metabolism Dysfunction, Pulmonary, 3
Death in infancy, Hypoxemia, Neonatal death, Respiratory failure, Neonatal respiratory distress, ... OMIM:610921
Snakebite Envenomation
Angioedema, Respiratory failure, Ecchymosis, Erythema ORPHA:449285
Adult Acute Respiratory Distress Syndrome
Respiratory failure, Hypoxemia, Abnormal blood gas level ORPHA:70578
Absence Of The Pulmonary Artery
Congestive heart failure, Abnormal hemidiaphragm morphology, Atrial flutter, Cardiomegaly, Reduce... 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
Hepatomegaly, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Exercise-i... OMIM:201475
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory failure, Jaundice OMIM:250940
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Lower limb muscle weakness, Ventricular fibrillation, Rhabdomyolysis, Incr... ORPHA:79102
Combined Oxidative Phosphorylation Defect Type 23
Respiratory failure, Cyanosis ORPHA:444013
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis ORPHA:2400
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Cardiac arrest, Cardiomyopathy, Left ventricular hypertrophy, Cardiomegaly, Myopathy OMIM:617713
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Facial hypotonia, Left ventricular outflow tract obstruction, Low-output congestive... ORPHA:308552
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Atrioventricular block, Arrhythmia ORPHA:93317
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Optic atrophy, Cyanosis OMIM:261680
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Angina pectoris, Low-output congestive heart failure, Rimmed vacuoles, Cardiomyopat... ORPHA:565612
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Leopard Syndrome 1
Spina bifida occulta, Scapular winging, Hypertrophic cardiomyopathy, Pulmonic stenosis, Bundle br... OMIM:151100
Typhoid
Gastrointestinal hemorrhage, Hepatomegaly, Cardiac arrest, Epistaxis, Splenomegaly, Arrhythmia ORPHA:99745
Glycogen Storage Disease Ii
Increased muscle glycogen content, Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis devia... OMIM:232300
Hereditary Methemoglobinemia
Cyanosis ORPHA:621
Hec Syndrome
Endocardial fibroelastosis, Cardiomyopathy, Arrhythmia ORPHA:2119
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory failure, Respiratory insufficiency due to muscle weakness, Spina bifida occulta OMIM:618291
Severe Congenital Nemaline Myopathy
Respiratory failure, Facial diplegia, Facial palsy ORPHA:171430
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Hepatosplenomegaly, Skeletal muscle atrophy, Cardiomegaly,... OMIM:268800
Neuraminidase Deficiency
Hepatomegaly, Cardiomyopathy, Splenomegaly, Skeletal muscle atrophy, Cardiomegaly OMIM:256550
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Ventricular bigeminy, Left bundle branch block, Facial palsy, Limb muscle weakness, Arrhythmia OMIM:610131
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Respiratory failure, Cervical myelopathy, Myelopathy, Death in childhood OMIM:617186
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Alg1-Cdg
Respiratory failure ORPHA:79327