Gene Summary

Name:
nebulette
Synonyms:
Lnebl,  A630080F05Rik,  1200007O21Rik,  D830029A09Rik

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
abnormal reproductive system morphology Nebltm1b(EUCOMM)Wtsi HOM Early adult 1.09×10-05

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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 Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Forepaw

11 Images

X-ray

XRay Images Skull Lateral Orientation

11 Images

DSS Histology

Images

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

11 Images

X-ray

XRay Images Whole Body Lateral Orientation

11 Images

Eye Morphology

Images Slit Lamp

2 Images

Anti-nuclear antibody assay

Images

4 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

Human diseases caused by Nebl mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Focal necrosis ... OMIM:602087
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Chest pain... OMIM:618920
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... OMIM:601154
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... OMIM:601493
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy OMIM:107970
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... OMIM:604772
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy OMIM:604401
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Left ventricular noncompaction, Ventri... OMIM:616249
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Torsade de pointes, Sudden cardiac death, Polymorp... OMIM:115000
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... OMIM:614021
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602086
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syn... OMIM:610476
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... OMIM:607450
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... OMIM:610193
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Cardiac arrest, Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ven... OMIM:609040
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Sudden cardiac death, Syncope, Ventricular tachycardia, Ventri... OMIM:614916
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Chest tightness, Left vent... OMIM:604169
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... OMIM:612347
His Bundle Tachycardia
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia ORPHA:3283
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... OMIM:615441
Naxos Disease
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... OMIM:601214
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... OMIM:600884
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function OMIM:604765
Atrial Standstill
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... ORPHA:1344
Atrial Standstill 1
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Endocardial fibroela... OMIM:108770
Ventricular Fibrillation, Paroxysmal Familial, 2
Sudden cardiac death, Ventricular fibrillation, Premature ventricular contraction OMIM:612956
Myotonic Dystrophy 2
Myalgia, Premature ventricular contraction, Type 2 muscle fiber atrophy, Weakness of facial muscu... OMIM:602668
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:607487
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... OMIM:615373
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... OMIM:612158
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Premature ventricular contraction, Hypotension, Rhabdomyolysis, Ventricular tachyca... OMIM:212138
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... OMIM:608751
Distal Myopathy, Tateyama Type
Myalgia, Intrinsic hand muscle atrophy, EMG: myopathic abnormalities, Palpitations, Increased var... ORPHA:488650
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Bacterial endocarditis, Heart block, Premature ventricular contraction ORPHA:1964
Sick Sinus Syndrome 2
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... OMIM:163800
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Myofiber disarray, Cerebral hemorrhage, Tricuspid regurgitation, M... OMIM:619897
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... OMIM:615396
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... OMIM:618654
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... OMIM:611528
Familial Dilated Cardiomyopathy
Left bundle branch block, Left ventricular hypertrophy, Palpitations, Mitral regurgitation, Eleva... ORPHA:217607
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... ORPHA:206549
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Muscular dystrophy, Sudden card... ORPHA:300751
Cardiomyopathy, Familial Hypertrophic, 10
Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Sudden card... OMIM:608758
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... OMIM:612098
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Premature ventricular contraction, Syncope OMIM:192445
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Apical hypertrophic cardiomyopathy, Ventricular hypertrophy, Atri... OMIM:613690
Ethanolaminosis
Cardiomegaly OMIM:227150
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Peroneal muscle weakness, Decreased cervical spine flexion due to contractures of posterior cervi... OMIM:181350
Cardiac Diverticulum
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Chest pain, Ab... ORPHA:1686
Muscular Dystrophy, Becker Type
Myalgia, Muscular dystrophy, Arrhythmia, Calf muscle pseudohypertrophy, Abnormal EKG, Cardiomyopathy OMIM:300376
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure OMIM:613642
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Myofiber disarra... OMIM:600858
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Sudden cardiac death, Atrial flutter, Left atrial enlargement, Atri... OMIM:615770
Myofibrillar Myopathy 10
Myalgia, Flexion contracture of finger, EMG: myopathic abnormalities, Left ventricular hypertroph... OMIM:619040
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, Synco... OMIM:613838
Danon Disease
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Exercise intolerance, Myocardial necrosis, E... OMIM:300257
Andersen-Tawil Syndrome
Torsade de pointes, Abnormal T-wave, Premature ventricular contraction, Polymorphic ventricular t... ORPHA:37553
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... OMIM:618052
Heart-Hand Syndrome, Slovenian Type
Supraventricular arrhythmia, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electroph... ORPHA:168796
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Skeletal muscle hypertrophy, Proximal muscle weakness in lower li... OMIM:619566
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Right bund... OMIM:614954
Extrasystoles, Multiform Ventricular, With Short Stature, Hyperpigmentation And Microcephaly
Premature ventricular contraction OMIM:133750
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... OMIM:613251
Cardiomyopathy, Familial Hypertrophic, 1
Arrhythmia, Sudden death, Subvalvular aortic stenosis, Asymmetric septal hypertrophy, Congestive ... OMIM:192600
Cardiomyopathy, Familial Hypertrophic, 4
Hepatomegaly, Muscular ventricular septal defect, Sudden cardiac death, Chest pain, Right bundle ... OMIM:115197
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Cardiomyopathy, Familial Hypertrophic, 12
Sudden cardiac death, Ventricular septal hypertrophy, Ventricular tachycardia, Paroxysmal atrial ... OMIM:612124
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
EMG: myopathic abnormalities, Palpitations, Arrhythmia, ST segment elevation, Foot dorsiflexor we... ORPHA:263297
Rippling Muscle Disease 2
Skeletal muscle hypertrophy, Abnormal skeletal muscle morphology, Exercise-induced myalgia, Percu... OMIM:606072
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Malignant Hyperthermia Of Anesthesia
Supraventricular tachycardia, High-output congestive heart failure, Premature ventricular contrac... ORPHA:423
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Permanent atrial fibrillation, Right atrial enlargement, Left bun... OMIM:617047
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in muscle fiber diameter... ORPHA:34516
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Exercise intolerance, Fatty replacement of skeletal muscle, Cardiom... OMIM:255100
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... OMIM:601494
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... ORPHA:439
Paramyotonia Congenita Of Von Eulenburg
Facial muscle hypertrophy, Myalgia, Myotonia of the face, Paradoxical myotonia, Cold-sensitive my... ORPHA:684
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Myopathy, X-Linked, With Postural Muscle Atrophy
Hamstring contractures, Back pain, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rim... OMIM:300696
Long Qt Syndrome 9
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Chest pain, Sinus bradycardia, ... OMIM:611818
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Angulated muscle fibers, Weakness of facial musculature, Fatigue, Shoulder girdle muscle weakness... OMIM:619477
Long Qt Syndrome 2
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613688
Myotonia Congenita, Autosomal Dominant
Myalgia, Myotonia with warm-up phenomenon, Skeletal muscle hypertrophy, Percussion myotonia, Hand... OMIM:160800
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval OMIM:220400
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Congestive heart failure, Atrial se... OMIM:620066
Leber Hereditary Optic Neuropathy
Retinal telangiectasia, Ventricular preexcitation, Arrhythmia, Myopathy ORPHA:104
Loeffler Endocarditis
Chest pain, Right bundle branch block, Pericarditis, Myocardial fibrosis, Abnormal morphology of ... ORPHA:75566
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... OMIM:194200
Ventricular Tachycardia, Familial
Sudden cardiac death, Paroxysmal ventricular tachycardia, Cardiomyopathy, Right bundle branch block OMIM:192605
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98855
Cirrhotic Cardiomyopathy
Fourth heart sound, Right atrial enlargement, Hepatomegaly, Exercise intolerance, Left ventricula... ORPHA:57777
Rippling Muscle Disease 1
Exercise-induced myalgia, Percussion-induced rapid rolling muscle contractions, Muscle mounding, ... OMIM:600332
Long Qt Syndrome 6
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613693
Fixed Subaortic Stenosis
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... ORPHA:3092
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... OMIM:619747
Salih Myopathy
Flexion contracture, Calf muscle hypertrophy, Arrhythmia, Sudden death, Dilated cardiomyopathy, F... OMIM:611705
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Tendon rupture, Atrial arrhythmia, R... ORPHA:85451
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Absent ankle pulse, Lower limb pain, Limb pain, Myocardial infarcti... ORPHA:90064
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... OMIM:619371
Cardiomyopathy, Familial Hypertrophic, 13
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... OMIM:613243
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Abnormal cardiac septum morphology, Arrhythmia ORPHA:1479
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Anomalous pulmonary venous return, Atrial arrhythmia, Exercise intol... ORPHA:99105
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Tricuspid regurgitation, Palpitations, Fatigue, Syncope, Heart murmur, Abnormal car... ORPHA:422
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased endomysial connective tissue, Macroglossia, Right ventricular hypertrophy, Calf muscle ... ORPHA:353
Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98853
Congenital Gerbode Defect
Bacterial endocarditis, Right atrial enlargement, Elevated right atrial pressure, Tricuspid regur... ORPHA:99095
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... OMIM:604145
Coronary Arterial Fistula
Bacterial endocarditis, Angina pectoris, Bicuspid aortic valve, Congestive heart failure, Atrial ... ORPHA:2041
Muscular Dystrophy, Progressive Pectorodorsal
Shoulder girdle muscle weakness, Muscular dystrophy, Scapular winging, Arrhythmia OMIM:310095
Zebra Body Myopathy
Torticollis, Muscle fiber necrosis, Nemaline bodies, EMG: myopathic abnormalities, Rimmed vacuole... ORPHA:97240
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Exercise intolerance, Left ventricular hypertrophy, Fatigue, Cardiomegaly, Cardiomy... OMIM:617713
Brugada Syndrome 1
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... OMIM:601144
Long Qt Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:192500
Cardiomyopathy, Familial Hypertrophic, 17
Myocardial fibrosis, Angina pectoris, Left ventricular hypertrophy, Palpitations, Ventricular tac... OMIM:613873
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... OMIM:613426
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Arrhythmia, Cardiomyopathy, Proximal amyotrophy OMIM:612999
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Myocardial fibrosis, Left ventricular noncompaction cardiomyopathy, Right atrial enlargement, Hep... OMIM:619424
Ebstein Anomaly
Atrial septal defect, Atrial standstill, Sudden cardiac death, Ventricular preexcitation, Right b... OMIM:224700
X-Linked Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98863
Myotonia Congenita, Autosomal Recessive
Myalgia, Myotonia with warm-up phenomenon, Skeletal muscle hypertrophy, Myotonia, Muscle hypertro... OMIM:255700
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... OMIM:540000
Familial Short Qt Syndrome
Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, Ventricular fibrillation, At... ORPHA:51083
Pulmonary Hypertension, Primary, 5
Angina pectoris, Right ventricular hypertrophy, Right ventricular failure, Fatigue, Syncope, Pulm... OMIM:265400
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Sudden death, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Atrial Septal Defect, Ostium Primum Type
Exercise intolerance, Systolic heart murmur, Right bundle branch block, Atrioventricular block, P... ORPHA:99106
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Chest pain, Low-output congestive heart failure, Prolonge... ORPHA:66529
Long Qt Syndrome 5
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:613695
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... OMIM:603830
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomyopathy, Cardiomegaly ORPHA:85447
Cardiomyopathy, Dilated, 1Ii
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Increased left ventricular... OMIM:615184
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Left atrial enlargement, Chest pain, Reduced left ventricular ejection... ORPHA:563
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Abnormal mitral valve morphology, Exercise intolerance, Systolic hea... ORPHA:99103
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Supraventricular arrhythmia, Right atrial enlargement, Anomalous pulmona... ORPHA:99104
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Right atrial enlargement, Abnormal left ventricular function, Hepato... ORPHA:75249
Romano-Ward Syndrome
Torsade de pointes, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Prolo... ORPHA:101016
Ebstein Malformation Of The Tricuspid Valve
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Sudden car... ORPHA:1880
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Ventricular tachycardia, Syncope ORPHA:3286
Scorpion Envenomation
Bundle branch block, Premature ventricular contraction, ST segment depression, Abdominal pain, Ta... ORPHA:466677
Familial Atrial Myxoma
Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Heart murmur, Chest pa... ORPHA:615
Paramyotonia Congenita Of Von Eulenburg
Myalgia, Paradoxical myotonia, Skeletal muscle hypertrophy, Handgrip myotonia, Percussion myotonia OMIM:168300
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... ORPHA:1329
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Atrioventricular block, Hepatomegaly, Complete heart block with narrow ... ORPHA:1677
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Cardiac shunt, Anomalous p... ORPHA:860
Brody Disease
Myalgia, Flexion contracture, Skeletal muscle hypertrophy, Percussion myotonia, Myotonia OMIM:601003
Brugada Syndrome 3
J wave, Sudden cardiac death, Ventricular arrhythmia, Syncope, Atrial fibrillation, Shortened QT ... OMIM:611875
Long Qt Syndrome 14
Prolonged QTc interval, Sudden death, Prolonged QT interval, T-wave alternans, Ventricular fibril... OMIM:616247
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Muscle fiber necrosis, Myalgia, Exercise intolerance, Muscular dystrophy, Increased variability i... OMIM:616812
Long Qt Syndrome 12
Torsade de pointes, Ventricular fibrillation, Syncope, Prolonged QTc interval OMIM:612955
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
EMG: myopathic abnormalities, Muscular dystrophy, Increased variability in muscle fiber diameter,... OMIM:253601
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Prolonged QTc interval, Syncope, Ventricular fibrillation, Postex... ORPHA:90647
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Wolff-Parkinson-White syndrome, Ventricular septal hypertrophy OMIM:614947
Paroxysmal Extreme Pain Disorder
Mandibular pain, Tachycardia, Anal pain, Ocular pain, Bradycardia OMIM:167400
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:605676
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Left ventricular hypertrophy, Atrial flut... OMIM:614022
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Macroglossia, Hypotension, Shortened PR interval, Biventricular hypertr... OMIM:261740
Timothy Syndrome
Tetralogy of Fallot, Sudden death, Ventricular septal defect, Patent foramen ovale, Prolonged QT ... OMIM:601005
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Glycogen accumulation in muscle fiber lysosomes, Increased muscle glycogen content, Exercise into... ORPHA:368
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Muscular dystrophy, Proximal amyotrophy, Arrhythmia, Atrial fibrillation, Bradycardia OMIM:614302
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... ORPHA:75565
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Vent... OMIM:615616
Long Qt Syndrome 8
Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillation, Sinus bradycardi... OMIM:618447
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Ventricular tachycardia, Cardiomegaly OMIM:600649
Cardiomyopathy, Dilated, 1Y
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Increased left ventricular e... OMIM:611878
Trimethylaminuria
Hypertension, Tachycardia, Splenomegaly OMIM:602079
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Myalgia, Exercise intolerance, Lower limb pain, Fatigue, Ragged-red muscle fibers, Chest pain, Di... ORPHA:1349
Muscular Dystrophy, Barnes Type
Muscular dystrophy, Myopathy, Myotonia OMIM:158800
Myotonia Fluctuans
Myalgia, Myotonia of the face, Myotonia with warm-up phenomenon, Fatigue, Spasticity of facial mu... ORPHA:99734
Brugada Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Right bundle branch block, Prolonged PR ... OMIM:611777
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Myalgia, Exercise intolerance, EMG: myopathic abnormalities, Left ventricular hypertrophy, Fatigu... OMIM:615418
Carnitine Deficiency, Systemic Primary
Reduced muscle carnitine level, Hepatomegaly, Cardiomegaly, Endocardial fibroelastosis, Hypertrop... OMIM:212140
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Ventricular fibrillation, Syncope OMIM:603829
Refsum Disease, Classic
Arrhythmia, Limb muscle weakness, Cardiomyopathy, Cardiomegaly, Congestive heart failure OMIM:266500
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Dilatation of the ventricular cavity, Effort-induced polymorphic ventricular tachycardia, Right v... OMIM:600996
Andersen Cardiodysrhythmic Periodic Paralysis
Palpitations, Syncope, Bidirectional ventricular ectopy, Prolonged QTc interval, Prominent U wave... OMIM:170390
Myopathy, X-Linked, With Excessive Autophagy
Flexion contracture, Proximal muscle weakness in lower limbs, Myotonia, Skeletal muscle atrophy, ... OMIM:310440
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Intrinsic hand muscle atrophy, Flexion contracture, Weakness of long finger extensor muscles, Exe... ORPHA:324442
Sick Sinus Syndrome 1
Ventricular escape rhythm, Sick sinus syndrome, Absent P wave, Sinus bradycardia, Prolonged QT in... OMIM:608567
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... ORPHA:216694
Hyperkalemic Periodic Paralysis
Myalgia, Flexion contracture, Skeletal muscle hypertrophy, Arrhythmia, Chest pain, Myotonia, Skel... ORPHA:682
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal ST segment, Arrhythmia, Abnormal left ventricle morphology, Congestive ... ORPHA:1055
Ogden Syndrome
Torticollis, Torsade de pointes, Bicuspid aortic valve, Premature atrial contractions, Secundum a... OMIM:300855
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy OMIM:618378
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Exercise-induced myalgia, Arrhythmia, Fatigue, Distal arthrogryposis, Cardiomegaly,... ORPHA:42
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Myotonia, Skeletal muscle atrophy OMIM:254950
Naxos Disease
Sudden cardiac death, Paroxysmal ventricular tachycardia, Arrhythmia, Cardiomyopathy, Congestive ... ORPHA:34217
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Myotonia, Increased muscle glycogen content, Skeletal muscle atrophy ORPHA:371
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... ORPHA:45452
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Atrial fibrillation, Shortened QT interv... OMIM:609621
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Arrhythmia, Sick sinus syndrome, Patent foramen ovale, Prolonged PR in... ORPHA:542306
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Muscular edema, Right ventricular hypertrophy, Proximal muscle weakness in lower limbs, Calf musc... ORPHA:268
Coproporphyria, Hereditary
Hepatomegaly, Abdominal pain, Splenomegaly, Tachycardia, Hypertension OMIM:121300
Hemochromatosis, Type 1
Hepatomegaly, Abdominal pain, Splenomegaly, Arrhythmia, Telangiectasia, Cardiomyopathy, Cardiomeg... OMIM:235200
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Ventricular tachycardia OMIM:300952
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Sudden cardiac death, Arrhythmia, Fatigue, Hypertrophic cardiomyopathy, Skeletal mu... ORPHA:156
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Cont... ORPHA:324410
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Increased muscle glycogen content, Hepatomegaly, Macroglossia, Sp... OMIM:232300
Variegate Porphyria
Tachycardia, Abdominal pain OMIM:176200
Polymyositis
Abnormal mitral valve morphology, Myalgia, Abnormal muscle fiber morphology, Hepatomegaly, Abdomi... ORPHA:732
Acetazolamide-Responsive Myotonia
Myalgia, Chest pain, Myotonia, Skeletal muscle hypertrophy ORPHA:99736
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Myalgia, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Ventricular hypertrophy, Pulmonary... OMIM:619051
Myotonia, Potassium-Aggravated
Myalgia, Myotonia, Skeletal muscle hypertrophy OMIM:608390
Myotonic Dystrophy 1
Facial diplegia, Myotonia, Atrial flutter, Atrial fibrillation, First degree atrioventricular block OMIM:160900
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Flexion contracture, Tachycardia, Ventricular septal defect, Hypertension, ... OMIM:613870
Classical-Like Ehlers-Danlos Syndrome Type 1
Myalgia, Arrhythmia, Fatigue, Mitral valve prolapse, Gastrointestinal hemorrhage, Skeletal muscle... ORPHA:230839
Infantile Sialic Acid Storage Disease
Congestive heart failure, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:269920
Myotonia With Skeletal Abnormalities And Mental Retardation
Firm muscles, Myotonia, Skeletal muscle hypertrophy OMIM:255710
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Palpitations, Tachycardia, Syncope, Hypertrophic cardiomyopathy ORPHA:276556
Marshall-Smith Syndrome
Atrial septal defect, Premature ventricular contraction, Ventricular septal defect, Hypertension,... OMIM:602535
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Fatigue, Congestive heart failure, Splenomegaly ORPHA:90037
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Myalgia, Fatigue, Limb muscle weakness, Cardiomyopathy, Cardiomegaly, Congestive heart failure OMIM:619259
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Congestive heart failure, Atrial septal defect, Exercise into... ORPHA:980
Creatine Phosphokinase, Elevated Serum
Myalgia, Abnormal muscle fiber morphology, EMG: myopathic abnormalities, Muscular dystrophy, Fati... OMIM:123320
Symptomatic Form Of Hemochromatosis Type 1
Arthralgia, Hepatomegaly, Abdominal pain, Splenomegaly, Arrhythmia, Fatigue, Cardiomyopathy, Elev... ORPHA:465508
Snakebite Envenomation
Muscle fiber necrosis, Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, Cere... ORPHA:449285
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Patent foramen ovale, C... OMIM:618652
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Exercise-induced myalgia, Sudden cardiac death, Exercise-induced rhabdomyolysis, Hy... OMIM:201475
Hypokalemic Periodic Paralysis, Type 1
Myotonia, Myopathy OMIM:170400
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Palpitations, Tachycardia, Syncope, Hypertrophic cardiomyopathy ORPHA:276575
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Right ventricular hypertrophy, Left ventricular hypertrophy, Seve... ORPHA:444013
Carnitine Palmitoyltransferase I Deficiency
Arrhythmia, Hepatomegaly, Cardiomegaly OMIM:255120
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Rhabdomyolysis, Palpitations, Tachycardia OMIM:188580
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased endomysial connective tissue, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Mus... OMIM:613157
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Hepatomegaly, Cardiomegaly OMIM:619064
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Palpitations, Tachycardia, Syncope, Hypertrophic cardiomyopathy ORPHA:276580
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Hyperte... ORPHA:1457
Richieri Costa-Da Silva Syndrome
Skeletal muscle hypertrophy, Asymmetric limb muscle stiffness, Myotonia of the upper limb, Handgr... ORPHA:3101
Adams-Oliver Syndrome 5
Right atrial enlargement, Splenomegaly, Pulmonic stenosis, Right ventricular hypertrophy, Patent ... OMIM:616028
Eisenmenger Syndrome
Angina pectoris, Supraventricular arrhythmia, Hepatomegaly, Atrioventricular canal defect, Exerci... ORPHA:97214
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Fatigue, Heart murmur, Diffuse alveolar hemorrhage, Cardiomegaly ORPHA:99931
Acquired Methemoglobinemia
Abdominal pain, Palpitations, Tachycardia, Arrhythmia, Fatigue, Syncope ORPHA:464453
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Exercise intolerance, Sudden cardiac death, Tachycardia, Fatigue, Ventricular septa... OMIM:614921
Myotonia Permanens
Myalgia, Generalized muscle hypertrophy, Skeletal muscle hypertrophy, Chest pain, Myotonia ORPHA:99735
Neuraminidase Deficiency
Hepatomegaly, Splenomegaly, Skeletal muscle atrophy, Cardiomyopathy, Cardiomegaly OMIM:256550
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pain, Atrial septal defect, Hepatomegaly, Tachycardia, Exercise-induced rhabdomyolysis, Arrhythmi... ORPHA:26793
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Mildly reduced left ventricular ejection fraction, Right ventricular outle... ORPHA:99094
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Pericardial constriction, Cardiomegaly, Congestive heart failure OMIM:253250
Autosomal Dominant Progressive External Ophthalmoplegia
Facial diplegia, Myalgia, Exercise intolerance, EMG: myopathic abnormalities, Quadriceps muscle w... ORPHA:254892
Short Qt Syndrome 1
Cardiac arrest, Palpitations, Sudden cardiac death, Syncope, Paroxysmal atrial fibrillation, Shor... OMIM:609620
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Right atrial enlargement, Abnormal left ventricular function, Abnormal T-wave, Rig... ORPHA:70591
Lipodystrophy, Congenital Generalized, Type 4
Myalgia, Hepatomegaly, Flexion contracture, Skeletal muscle hypertrophy, Splenomegaly, Exercise i... OMIM:613327
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Macroglossia, Left ventricular outflow tract obstruction, Left ventricular hypertro... ORPHA:308552
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia OMIM:141000
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Tachycardia, Syncope OMIM:615821
20P12.3 Microdeletion Syndrome
Wolff-Parkinson-White syndrome, Atrial septal defect ORPHA:261295
Familial Aortic Dissection
Abnormal left ventricular function, Chest pain, Aortic regurgitation, Cardiomegaly ORPHA:229
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Right ventricular dilatation, Tricus... OMIM:619705
Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Abnormality of the shoulder girdle musculature, Abnormality of the calf musculat... ORPHA:565612
Mitochondrial Complex I Deficiency, Nuclear Type 36
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Atrioventricular block, Hepatomegal... ORPHA:137675
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Arrhythmia, Syncope, Shortened PR interval, Right bundle branch b... OMIM:604559
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252920
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Congenital Fibrinogen Deficiency
Abdominal pain, Right ventricular hypertrophy, Left ventricular hypertrophy, Tachycardia, Interna... ORPHA:335
Amyloidosis, Hereditary, Transthyretin-Related
Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy, Cardiomegaly, Urinary incon... OMIM:105210
Brugada Syndrome 5
Bundle branch block, ST segment elevation, Ventricular fibrillation OMIM:612838
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Fatigue ORPHA:276608
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Tachycardia, Fatigue, Arthralgia, Congestive heart failure ORPHA:90033
Malignant Hyperthermia, Susceptibility To, 1
Rhabdomyolysis, Tachycardia, Hypotension OMIM:145600
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Congestive heart failure, Atrial septal defect, Aortic valve stenosis, Mac... ORPHA:363705
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Supraventricular arrhythmia, Myalgia, Hepatomegaly, Skeletal muscle hypertrophy, Splenomegaly, Mu... ORPHA:280365
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Right atrial enlargement, Pericardial effusion, Endocardial fibroelas... OMIM:619313
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Dilated cardiomyopathy, Hypertension, Cardiomegaly, Congestive heart failure OMIM:208000
Brugada Syndrome 8
ST segment elevation, Ventricular tachycardia, Right bundle branch block OMIM:613123
Hereditary Coproporphyria
Back pain, Abdominal pain, Proximal muscle weakness in lower limbs, Tachycardia, Limb pain, Proxi... ORPHA:79273
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Torsade de pointes, Acute rhabdomyolysis, Prolonged QTc interval, Rhabdomyolysis, Ventricular tac... OMIM:616878
Heart Block, Congenital
Myocardial fibrosis, Absent atrioventricular node, Atrial arrhythmia, Mitral regurgitation, Myoca... OMIM:234700
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Combined Oxidative Phosphorylation Deficiency 54
Myalgia, Asthenia, Tachycardia, Lower limb muscle weakness OMIM:619737
Pseudo-Torch Syndrome 3
Hypertension, Cerebral hemorrhage, Cardiomegaly OMIM:618886
Cocaine Intoxication
Supraventricular arrhythmia, Prolonged QRS complex, Cerebral hemorrhage, Abdominal pain, Diffuse ... ORPHA:90068
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Tachycardia, Hepatomegaly, Syncope ORPHA:324575
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension, Cardiomegaly OMIM:613320
Glycogen Storage Disease Due To Acid Maltase Deficiency
Glycogen accumulation in muscle fiber lysosomes, Hepatomegaly, Macroglossia, Flexion contracture,... ORPHA:365
Sandhoff Disease
Hepatomegaly, Episodic abdominal pain, Macroglossia, Orthostatic hypotension, Hepatosplenomegaly,... OMIM:268800
Normokalemic Periodic Paralysis
Percussion myotonia OMIM:170600
Autoimmune Hypoparathyroidism
Abnormal left ventricular function, Chest pain, Prolonged QT interval, Ventricular arrhythmia ORPHA:36913
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Camptodactyly of toe, Impaired myocardial contractility, Cardiomyopathy, Cardi... ORPHA:158687
Proximal Myotonic Myopathy
Myotonia ORPHA:606
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Fatigue, Arthralgia ORPHA:90036
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Corticosteroid-Binding Globulin Deficiency
Hypertension, Fatigue, Hypotension OMIM:611489
Car T Cell Therapy-Associated Cytokine Release Syndrome
Myalgia, Tachycardia, Arrhythmia, Fatigue, Hypotension, Reduced left ventricular ejection fractio... ORPHA:542323
Thomsen And Becker Disease
Myotonia ORPHA:614
Gaucher Disease, Type Iiic
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... OMIM:231005
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly OMIM:239850
Sickle Cell Anemia
Hepatomegaly, Abdominal pain, Splenomegaly, Hypertension, Cardiomegaly OMIM:603903
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, C... OMIM:619343
Relapsing Fever
Myalgia, Chills, Abdominal pain, Tachycardia, Fatigue, Hypotension, Epistaxis, Arthralgia ORPHA:91547
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypertrophic cardiomyopathy, Flexion contracture, Cardiomegaly OMIM:616897
Episodic Ataxia Type 1
Calf muscle hypertrophy, Myotonia ORPHA:37612
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Tachycardia, Tetralogy ... ORPHA:3426
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:391428
Carney Triad
Abdominal pain, Tachycardia, Arrhythmia, Fatigue, Leiomyosarcoma, Gastrointestinal hemorrhage, Hy... ORPHA:139411
Spastic Paraplegia 79, Autosomal Recessive
Myotonia, Flexion contracture OMIM:615491
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia, Abnormal heart morphology ORPHA:79264
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cardiac arrest, Hypotension, Bradycardia ORPHA:70587
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Idiopathic Camptocormia
EMG: myopathic abnormalities, Abnormal muscle fiber dysferlin, Myositis, Proximal spinal muscular... ORPHA:1320
Tularemia
Myalgia, Asthenia, Tachycardia, Ocular pain, Neck pain, Chills, Arthralgia ORPHA:3392
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... OMIM:171420
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Arrhythmia, Enlarged kidney, Increased muscle lipid content, Dilated cardiomyopathy... OMIM:608836
Stiff-Person Syndrome
Asymmetric limb muscle stiffness, Tachycardia, Axial muscle stiffness, Proximal limb muscle stiff... OMIM:184850
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Arrhythmia, Hypotension, Rhabdomyolysis, Ventricular tachycardia, Cardiomyopathy ORPHA:159
16P12.1P12.3 Triplication Syndrome
Abnormal tricuspid valve morphology, Tachycardia, Atrial septal defect, Abnormal heart morphology ORPHA:485405
Tetanus
Abdominal pain, Rigors, Tachycardia, Hypertension, Bowel incontinence, Bradycardia ORPHA:3299
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Histiocytosis-Lymphadenopathy Plus Syndrome
Flexion contracture of finger, Atrial septal defect, Hepatomegaly, Splenomegaly, Pulmonic stenosi... OMIM:602782
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect... ORPHA:99125
Schwartz-Jampel Syndrome, Type 1
Hip contracture, Joint contracture of the hand, Skeletal muscle hypertrophy, Quadriceps muscle we... OMIM:255800
Nestor-Guillermo Progeria Syndrome
Right atrial enlargement, Flexion contracture, Mitral regurgitation, Right bundle branch block, L... OMIM:614008
Truncus Arteriosus
Abnormal heart valve physiology, Atrial septal defect, Right ventricular hypertrophy, Pulmonic st... ORPHA:3384
Hyperkalemic Periodic Paralysis
Myotonia OMIM:170500
Paragangliomas 3
Hypertension associated with pheochromocytoma, Tachycardia, Palpitations OMIM:605373
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Arrhythmia, Abnormal myocardium morphology, Heart block, Cardiomyopathy, Cardiomegaly ORPHA:228308
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Abnormal left ventricular function, Hypovolemia, Subarachnoid hemorrhage, ... ORPHA:91387
Steinert Myotonic Dystrophy
Facial diplegia, Weakness of facial musculature, Abnormality of the tongue muscle, Skeletal muscl... ORPHA:273
Beck-Fahrner Syndrome
Ventricular septal defect, Facial hypotonia, Cardiomegaly OMIM:618798
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defect, Cardiome... OMIM:306955
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Hypoplasia of the musculature, Mucosal telangiectasiae, Small hypothenar eminence, Thenar muscle ... ORPHA:2463
Cantú Syndrome
Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Cardiomegaly ORPHA:1517
Fucosidosis
Hepatomegaly, Decreased muscle mass, Cardiomegaly ORPHA:349
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Torticollis, Cardiomegaly, Overriding aorta OMIM:617022
Paragangliomas 1
Hypertension associated with pheochromocytoma, Palpitations, Tachycardia OMIM:168000
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Palpitations, Lower limb muscle weakness, Increased intramyocel... ORPHA:79102
Hyperinsulinism Due To Hnf4A Deficiency
Tachycardia, Hepatomegaly, Fatigue ORPHA:263455
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Left ventricular hypertrophy, Dilated cardiomyopathy, Tachycardia OMIM:618321
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myalgia, Hepatomegaly, Abdominal pain, Splenomegaly, Tachycardia, Fatigue, Hypotension, Syncope, ... ORPHA:98849
Melas
Wolff-Parkinson-White syndrome, Concentric hypertrophic cardiomyopathy, Exercise intolerance, Rag... ORPHA:550
Episodic Ataxia, Type 2
Myotonia OMIM:108500
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Wolff-Parkinson-White syndrome OMIM:601338
Renal Nutcracker Syndrome
Abdominal pain, Orthostatic hypotension, Flank pain, Tachycardia, Fatigue, Syncope ORPHA:71273
Serotonin Syndrome
Rhabdomyolysis, Tachycardia, Hypertension, Hypotension ORPHA:43116
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Atrial septal defect, Tricuspid regurgitation, Macroglossia, Flexion contracture, Mitral regurgit... ORPHA:505248
Bacterial Toxic-Shock Syndrome
Myalgia, Abdominal pain, Tachycardia, Myositis, Myocarditis, Hypotension, Shock, Chills, Pain, Ca... ORPHA:36234
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly, Telangiectasia of the oral mucosa ORPHA:79280
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Palpitations, Ventricular arrhythmia, Hypotension, Fatigue, Hyperten... ORPHA:91347
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia OMIM:613239
Mucolipidosis Ii Alpha/Beta
Diastasis recti, Hepatomegaly, Macroglossia, Splenomegaly, Mitral regurgitation, Camptodactyly, E... OMIM:252500
Crimean-Congo Hemorrhagic Fever
Melena, Hepatomegaly, Hemoperitoneum, Subdural hemorrhage, Hemothorax, Myocarditis, Arthralgia, B... ORPHA:99827
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Flexion contracture, Tachycardia, Retinal hemorrhage, Ventricular septal defect, Hypertension, Br... OMIM:614653
Porphyria Variegata
Back pain, Abdominal pain, Tachycardia, Chest pain, Hypertension, Proximal muscle weakness in upp... ORPHA:79473
Neuroleptic Malignant Syndrome
Rigors, Urinary incontinence, Tachycardia, Pulmonary embolism, Arrhythmia, Hypotension, Fatigue, ... ORPHA:94093
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Mercury Poisoning
Hypertension, Tachycardia, Episodic abdominal pain, Hypotension ORPHA:330021
Ethylene Glycol Poisoning
Facial palsy, Tachycardia, Flank pain, Hypotension, Shock, Hypertension, Atrial fibrillation, Pro... ORPHA:31826
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Homozygous Familial Hypercholesterolemia
Angina pectoris, Abnormal left ventricular function, Abnormal tendon morphology, Sudden cardiac d... ORPHA:391665
Cardiac-Urogenital Syndrome
Atrial septal defect, Congenital diaphragmatic hernia, Hypoplastic left heart, Scimitar anomaly, ... OMIM:618280
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Myotonia ORPHA:391307
Schwartz-Jampel Syndrome
Hip contracture, Myalgia, Skeletal muscle hypertrophy, Arrhythmia, Wrist flexion contracture, Fle... ORPHA:800
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Hepatomegaly OMIM:229700
Acute Intermittent Porphyria
Back pain, Abdominal pain, Proximal muscle weakness in lower limbs, Urinary incontinence, Tachyca... ORPHA:79276
Mogs-Cdg
Atrial septal defect, Hepatomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Cardiomegaly ORPHA:79330
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Atrioventricular block, Hepatomegaly, Hip pain, Flexion contrac... ORPHA:581
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia ORPHA:264675
Graft Versus Host Disease
Dupuytren contracture, Abdominal pain, Hepatosplenomegaly, Tachycardia, Myositis, Skeletal muscle... ORPHA:39812
Fucosidosis
Hepatomegaly, Macroglossia, Flexion contracture, Splenomegaly, Cardiomegaly OMIM:230000
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Right ventricular hypertroph... OMIM:300967
Pheochromocytoma
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... OMIM:171300
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Lower limb hypertonia, Bilateral wrist flexion contracture, C... ORPHA:97297
Porphyria, Acute Intermittent
Hypertension, Tachycardia, Abdominal pain, Urinary incontinence OMIM:176000
Gitelman Syndrome
Myalgia, Abnormal T-wave, ST segment depression, Abdominal pain, Raynaud phenomenon, Palpitations... ORPHA:358
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Atrial septal defect, Congenital diaphragmatic hernia, Left ventricular hy... OMIM:245600
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Arthrogryposis multiplex congenita, Cardiomegaly OMIM:608013
Beckwith-Wiedemann Syndrome
Diastasis recti, Hepatomegaly, Macroglossia, Pancreatic hyperplasia, Enlarged kidney, Cardiomyopa... OMIM:130650
Abetalipoproteinemia
Myalgia, Hepatomegaly, Cardiomegaly, Distal lower limb muscle weakness, Myopathy, Congestive hear... ORPHA:14
Hemorrhagic Fever-Renal Syndrome
Melena, Chills, Myalgia, Back pain, Hematemesis, Abdominal pain, Palpitations, Tachycardia, Intra... ORPHA:340
Proteasome-Associated Autoinflammatory Syndrome 1
Flexion contracture of finger, Hepatomegaly, Arthralgia, Flexion contracture, Macroglossia, Splen... OMIM:256040
Congenital Tracheomalacia
Atrial septal defect, Single ventricle, Tetralogy of Fallot, Ventricular septal defect, Partial a... ORPHA:95430
Developmental And Epileptic Encephalopathy 95
Multiple joint contractures, Hepatomegaly, Macroglossia, Arthrogryposis multiplex congenita, Card... OMIM:618143
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Stuve-Wiedemann Syndrome 1
Camptodactyly, Flexion contracture of toe, Elbow flexion contracture, Contracture of the proximal... OMIM:601559
Hyperthyroidism, Nonautoimmune
Tachycardia OMIM:609152
Cholera
Abdominal cramps, Abdominal pain, Hypovolemic shock, Tachycardia, Hypotension ORPHA:173
Mirizzi Syndrome
Epigastric pain, Abdominal pain, Tachycardia, Abdominal colic, Chills ORPHA:521219
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Facial hypotonia, Handgrip myotonia ORPHA:438216
Plague
Hepatomegaly, Hematemesis, Abdominal pain, Splenomegaly, Tachycardia, Endocarditis, Arrhythmia, H... ORPHA:707
Sepsis In Premature Infants
Hepatomegaly, Splenomegaly, Tachycardia, Hypotension, Bradycardia ORPHA:90051
Aicardi-Goutières Syndrome
Multiple joint contractures, Raynaud phenomenon, Hepatosplenomegaly, Myositis, Hypertrophic cardi... ORPHA:51
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Hepatomegaly ORPHA:348
Tuberous Sclerosis 1
Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma OMIM:191100
Marburg Hemorrhagic Fever
Myalgia, Arthralgia, Back pain, Abdominal pain, Hypovolemia, Tachycardia, Hypotension, Shock, Int... ORPHA:99826
Generalized Arterial Calcification Of Infancy
Arthralgia, Weak pulse, Myocardial calcification, Retinal hemorrhage, Gangrene, Left ventricular ... ORPHA:51608
Paragangliomas 4
Hypertension associated with pheochromocytoma, Palpitations, Tachycardia OMIM:115310
Singleton-Merten Syndrome 1
Aortic valve calcification, Muscle fiber atrophy, Aortic valve stenosis, Tendon rupture, Mitral v... OMIM:182250
Beckwith-Wiedemann Syndrome
Diastasis recti, Hepatomegaly, Congenital diaphragmatic hernia, Macroglossia, Splenomegaly, Rhabd... ORPHA:116
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Hypertension OMIM:223900
Paternal Uniparental Disomy Of Chromosome 6
Ventricular septal defect, Macroglossia, Hepatomegaly, Cardiomegaly ORPHA:96191
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly, Cardiomegaly OMIM:618278
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Wolff-Parkinson-White syndrome, Mitral valve prolapse, Macroglossia ORPHA:369950
Rh Deficiency Syndrome
Hepatosplenomegaly, Tachycardia ORPHA:71275
Williams Syndrome
Abnormal cardiac septum morphology, Sudden cardiac death, Ventricular septal defect, Myocardial i... ORPHA:904
Tuberous Sclerosis 2
Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma OMIM:613254
Familial Dysautonomia
Orthostatic hypotension, Tachycardia, Hypertension ORPHA:1764
Imerslund-Gräsbeck Syndrome
Tachycardia ORPHA:35858
Yunis-Varon Syndrome
Atrial septal defect, Tetralogy of Fallot, Renovascular hypertension, Ventricular septal defect, ... ORPHA:3472
Liver Disease, Severe Congenital
Abnormal left ventricular function, Atrial septal defect, Hepatomegaly, Splenomegaly, Systolic he... OMIM:619991
Degcags Syndrome
Atrial septal defect, Hepatomegaly, Dysplastic pulmonary valve, Pulmonic stenosis, Diaphragmatic ... OMIM:619488
45,X/46,Xy Mixed Gonadal Dysgenesis
Bicuspid aortic valve, Tachycardia, Prolonged QT interval, Muscle hypertrophy of the lower extrem... ORPHA:1772
Smith-Lemli-Opitz Syndrome
Atrial septal defect, Hepatomegaly, Splenomegaly, Ventricular septal defect, Ventricular fibrilla... OMIM:270400

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 Nebl

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 Nebl.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Nebltm1b(EUCOMM)Wtsi