Gene Summary

Name:
bridging integrator 1
Synonyms:
Amphiphysin 2,  Amphl

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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 tail movements Bin1Bin1_mut2 HET Early adult 5.32×10-05

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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.

Phenotype associated images not available

Human diseases caused by Bin1 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 Bin1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Bin1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Cardiomyop... OMIM:609200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Flexion contracture, Calf muscle hypertrophy, EMG: myopathic abnormalities, Limb-girdle muscle at... OMIM:608099
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Gne Myopathy
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Ab... ORPHA:602
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Intrinsic hand muscle atrophy, Finger flexor weakness, Proximal muscle weakness in lower limbs, W... ORPHA:63273
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Hypertrophic cardiomyopathy, Myopathy OMIM:609500
Myopathy, Distal, 7, Adult-Onset, X-Linked
Myofiber disarray, Proximal muscle weakness in lower limbs, Scapular winging, Increased variabili... OMIM:301075
Lethal Congenital Contracture Syndrome 3
Multiple joint contractures, Skeletal muscle atrophy, Neonatal death, Arthrogryposis multiplex co... OMIM:611369
His Bundle Tachycardia
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia ORPHA:3283
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Myopathy, Distal, 4
Abnormality of the calf musculature, Distal upper limb amyotrophy, Distal lower limb amyotrophy, ... OMIM:614065
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula... OMIM:302045
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular hypertrophy, Left ventricular n... OMIM:612158
Cardiomyopathy, Familial Hypertrophic, 3
Sudden cardiac death, Hypertrophic cardiomyopathy OMIM:115196
Alpha-B Crystallin-Related Late-Onset Myopathy
Facial diplegia, EMG: myopathic abnormalities, Increased variability in muscle fiber diameter, Li... ORPHA:399058
Distal Nebulin Myopathy
Nemaline bodies, EMG: myopathic abnormalities, Weakness of facial musculature, Foot dorsiflexor w... ORPHA:399103
Cardiomyopathy Associated With Myopathy And Sudden Death
Asymmetric septal hypertrophy, Myopathy OMIM:212130
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Left atrial enlargement, Cardiomyopathy, Decreased muscle glycogen ... OMIM:611556
Cardiac Lipidosis, Familial
Cardiomyopathy, Death in infancy, Congestive heart failure OMIM:212080
Left Ventricular Noncompaction 2
Left ventricular noncompaction cardiomyopathy OMIM:609470
Cardiomyopathy, familial hypertrophic, 19
Asymmetric septal hypertrophy OMIM:613875
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy OMIM:616500
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular no... OMIM:601493
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... OMIM:615396
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Pelvic girdle muscle atrophy, Muscular dystrophy, Limb-girdle muscle weakness, Calf muscle pseudo... OMIM:604286
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy, Cardiomyopathy OMIM:225740
Cardiomyopathy, Familial Restrictive, 3
Cardiomyopathy OMIM:612422
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Fatty replacement of skeletal muscle, Dysphagia, Cardiomyopathy, My... OMIM:255100
Distal Myotilinopathy
Multiple joint contractures, EMG: myopathic abnormalities, Distal amyotrophy, Abnormal muscle fib... ORPHA:98911
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, ... OMIM:611615
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Intrinsic hand muscle atrophy, Abnormal left ventricular function, Limb-girdle muscle weakness, F... ORPHA:98912
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Left atrial enlar... OMIM:115210
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure OMIM:613642
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... OMIM:615373
Muscular Dystrophy, Becker Type
Muscular dystrophy, Arrhythmia, Calf muscle pseudohypertrophy, Abnormal EKG, Cardiomyopathy OMIM:300376
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy OMIM:613752
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Limb-girdle muscle weakness, Foot dorsiflexor w... OMIM:608810
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Myofiber disarray, M... OMIM:619897
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Flexion contracture of finger, Increased endomysial connective tissue, Proximal muscle weakness i... ORPHA:206549
Cardiomyopathy, Familial Hypertrophic, 15
Myofiber disarray, Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricu... OMIM:613255
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Skeletal muscle hypertrophy, Proximal muscle weakness in lower li... OMIM:619566
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy, Death in middle age, Increased left ventricular end-diastolic volume, Con... OMIM:613286
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:607487
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Peroneal muscle weakness, Decreased cervical spine flexion due to contractures of posterior cervi... OMIM:181350
Myopathy, X-Linked, With Postural Muscle Atrophy
Hamstring contractures, Skeletal muscle hypertrophy, EMG: myopathic abnormalities, Rimmed vacuole... OMIM:300696
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Mitral regurgitation, Left... OMIM:604169
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Myofibrillar myopathy, Autophagic vacuoles, Muscle fiber splitting,... OMIM:609452
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Supraventricular arrhythmia, Leg muscle stiffness, Distal lower limb muscle weakness, Cardiomyopathy ORPHA:320360
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Shoulder girdle muscle weakness, Reduced muscle fiber me... ORPHA:34515
Cardiomyopathy, Dilated, 2A
Myofiber disarray, Increased left ventricular end-diastolic volume, Cardiomyocyte hypertrophy, Di... OMIM:611880
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Fiber type grouping, Interosseus muscle atrophy, Dilated cardiomyopathy, Thenar muscle atrophy, D... OMIM:619903
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Arrhythmia, Cardiomyopathy, Proximal amyotrophy OMIM:612999
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... OMIM:613251
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Limb-girdle muscle weakness, Cardiomyopathy, Flexion contracture OMIM:609308
Cardiomyopathy, Dilated, 1Kk
Left ventricular hypertrophy, Mitral regurgitation, Increased left ventricular end-diastolic volu... OMIM:615248
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Endocardial fibroelastosis, Impaired myocardial ... OMIM:607482
Myopathy, Distal, 1
Amyotrophy of ankle musculature, Toe extensor amyotrophy, Rimmed vacuoles, Type 1 muscle fiber pr... OMIM:160500
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy, Death in infancy OMIM:615395
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Abnormal EKG, Cardiomyopathy OMIM:309930
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Global systolic dysfunction, Limb muscle weakness, Cardiomyopathy OMIM:606842
Cardiomyopathy, Familial Hypertrophic, 21
Myofiber disarray, Left ventricular hypertrophy, Mitral valve prolapse, Atrial fibrillation, Hype... OMIM:614676
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in muscle fiber diameter... ORPHA:34516
Cardiomyopathy, Familial Hypertrophic, 28
Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruction, Concentric hypert... OMIM:619402
Myopathy, Myosin Storage, Autosomal Dominant
EMG: myopathic abnormalities, Scapular winging, Pelvic girdle muscle weakness, Calf muscle pseudo... OMIM:608358
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Flexion contracture, Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fibe... OMIM:300718
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Adult-Onset Nemaline Myopathy
Nemaline bodies, Neuromuscular dysphagia, Flexion contracture, EMG: myopathic abnormalities, Incr... ORPHA:171442
Nemaline Myopathy 11, Autosomal Recessive
Nemaline bodies, Scapular winging, Type 1 muscle fiber predominance, Facial palsy, Cardiomyopathy... OMIM:617336
Cardiomyopathy, Dilated, 1U
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613694
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Abnormality of the shoulder girdle musculature, Left ventricular hypertrophy, Quadriceps muscle w... ORPHA:206546
Dpm3-Cdg
Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Dila... ORPHA:263494
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Limb-gir... OMIM:612937
Myopathy, Myosin Storage, Autosomal Recessive
Fourth heart sound, Congestive heart failure, Right axis deviation, Sinus tachycardia, EMG: myopa... OMIM:255160
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... OMIM:608751
Cardiomyopathy, Familial Hypertrophic, 18
Atrial fibrillation, Left ventricular hypertrophy, Paroxysmal atrial fibrillation, Hypertrophic c... OMIM:613874
Cardiomyopathy, Dilated, 1Cc
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:613122
Cardiomyopathy, Dilated, 1W
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:611407
Atrial Standstill
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... ORPHA:1344
Salih Myopathy
Flexion contracture, Calf muscle hypertrophy, Arrhythmia, Dilated cardiomyopathy, Facial palsy, C... OMIM:611705
Giant Axonal Neuropathy 2, Autosomal Dominant
Cardiomyopathy, Distal amyotrophy OMIM:610100
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Death in infancy OMIM:618235
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardiomyopathy OMIM:613876
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Scapular winging, Dilated cardi... ORPHA:206559
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Thigh hypertrophy, Calf muscle hypertrophy, Left ventricular hypertrophy, Increased variability i... ORPHA:86812
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Myocardial fibrosis, Left ventricular noncompaction cardiomyopathy, Right atrial enlargement, Myo... OMIM:619424
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyopathy OMIM:615352
Cardiomyopathy, Dilated, 1Dd
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic... OMIM:613172
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
EMG: myopathic abnormalities, Palpitations, Arrhythmia, ST segment elevation, Foot dorsiflexor we... ORPHA:263297
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular block, Di... OMIM:601419
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weakness, Dilated cardiomyo... OMIM:300580
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Apical hypertrophic cardiomyopathy, Ventricular hypertrophy, Atri... OMIM:613690
Triose Phosphate-Isomerase Deficiency
Hypertrophic cardiomyopathy, Skeletal muscle atrophy ORPHA:868
Cardiomyopathy, Dilated, 1L
Reduced systolic function, Sudden cardiac death, Increased left ventricular end-diastolic volume,... OMIM:606685
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Abnormal left ventricular function, Macroglossia, Flexion contracture, Muscular dystrophy, Congen... OMIM:613155
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Death in childhood, Dilated cardiomyopathy, Death in infancy OMIM:618189
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 1Ee
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613252
Childhood-Onset Nemaline Myopathy
Facial diplegia, Nemaline bodies, Neuromuscular dysphagia, Flexion contracture, EMG: myopathic ab... ORPHA:171439
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, Synco... OMIM:613838
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Atrial Standstill 1
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Endocardial fibroela... OMIM:108770
Myopathy, Myofibrillar, 6
EMG: myopathic abnormalities, Muscular dystrophy, Myofibrillar myopathy, Knee flexion contracture... OMIM:612954
Cardiomyopathy, Dilated, 1V
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613697
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Triangular tongue, Dilated cardiomyopa... OMIM:616827
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Reduced systolic function OMIM:604765
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy OMIM:610140
Laing Early-Onset Distal Myopathy
Abnormality of the calf musculature, Proximal muscle weakness in lower limbs, EMG: myopathic abno... ORPHA:59135
Glycogen Storage Disease Due To Lamp-2 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:34587
Cardiomyopathy, Familial Hypertrophic 27
Cardiac arrest, Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Right ventricula... OMIM:618052
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Increased variability in muscle fiber diameter, Pelvic girdle muscle wea... ORPHA:119
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Loeffler Endocarditis
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... ORPHA:75566
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... OMIM:601494
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Myopathy, Facial palsy, Cardiomyopathy, Flexion contracture OMIM:201470
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Death in childhood, Cardiomyopathy OMIM:619651
Cardiomyopathy, Dilated, 1Z
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure OMIM:611879
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy OMIM:609016
Cardiomyopathy, Familial Hypertrophic, 10
Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Palpitation... OMIM:608758
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy ORPHA:154
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Subvalvular aortic stenosis, Arrhythmia, Congestive heart failure OMIM:192600
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Myopathy, Congestive heart failure OMIM:618234
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... OMIM:600884
Mitochondrial Complex I Deficiency, Nuclear Type 15
Myopathy, Hypertrophic cardiomyopathy, Neonatal death, Flexion contracture OMIM:618237
Stuve-Wiedemann Syndrome 2
Death in adolescence, Neonatal death, Camptodactyly, Dysphagia, Pulmonary arterial hypertension, ... OMIM:619751
Danon Disease
Myocardial fibrosis, Wolff-Parkinson-White syndrome, EMG: myopathic abnormalities, Myocardial nec... OMIM:300257
Ventricular Tachycardia, Familial
Sudden cardiac death, Cardiomyopathy, Paroxysmal ventricular tachycardia, Right bundle branch block OMIM:192605
Arthrogryposis Multiplex Congenita 6
Nemaline bodies, Death in childhood, Increased variability in muscle fiber diameter, Neonatal dea... OMIM:619334
Cardiomyopathy, Familial Hypertrophic, 17
Angina pectoris, Myocardial fibrosis, Left ventricular hypertrophy, Palpitations, Ventricular tac... OMIM:613873
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Myopathy ORPHA:1369
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Muscle fiber atrophy, Scapular winging, Ragged-red muscle fibers, Dysphagia... ORPHA:254886
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Cardiomyopathy OMIM:619647
Cardiomyopathy, Dilated, 1K
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure OMIM:605582
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Hypertrophic cardiomyopathy, Neonatal death, Death in infancy OMIM:617184
Neutral Lipid Storage Disease With Myopathy
Increased muscle lipid content, Cardiomyopathy, Myopathy OMIM:610717
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure ORPHA:91130
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Death in infancy, Flexion contracture OMIM:608540
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Flexion contracture, Left ventricular noncompaction, Increased intramyocellular lipid droplets, R... OMIM:252011
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... OMIM:612098
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Atrial arrhythmia, Tendon rupture, Aortic valve stenosis, R... ORPHA:85451
Developmental And Epileptic Encephalopathy 35
Cardiomyopathy, Death in infancy OMIM:616647
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Death in infancy OMIM:614096
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Duchenne Muscular Dystrophy
Calf muscle hypertrophy, Skeletal muscle atrophy, Cardiomyopathy, Flexion contracture ORPHA:98896
Cardiomyopathy, Familial Hypertrophic, 12
Sudden cardiac death, Ventricular septal hypertrophy, Ventricular tachycardia, Paroxysmal atrial ... OMIM:612124
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... OMIM:619371
Cardiomyopathy, Dilated, 1Bb
Left bundle branch block, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:612877
Cardiomyopathy, Familial Restrictive, 6
Tricuspid regurgitation, Pulmonic stenosis, Pulmonary insufficiency, Restrictive cardiomyopathy, ... OMIM:619433
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Sick Sinus Syndrome 2
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... OMIM:163800
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Mitochondrial Complex I Deficiency, Nuclear Type 14
Hypertrophic cardiomyopathy, Myopathy OMIM:618236
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy OMIM:615235
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Flexion contracture, Dilated cardiomyopathy, Death in infancy, Hypertrophic cardiomyopathy, Brady... OMIM:618815
Coenzyme Q10 Deficiency, Primary, 7
Dysphagia, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia OMIM:616276
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Weakness of facial musculature, Abnormal atrioventricular conduction, Limb muscle weakness, Dysph... ORPHA:329336
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Death in adolescence, Death in early adulthood, Cardiomyocyte hypertrophy, Dilated cardiomyopathy... OMIM:605676
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy OMIM:615119
Cardiomyopathy, Dilated, 2E
Death in childhood, Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy, Death in infa... OMIM:619492
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Death in childhood, Hypertrophic cardiomyopathy OMIM:618683
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Left ventricular noncompaction, Ventri... OMIM:616249
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Muscle fiber atrophy, Secundum atrial septal defect, Flexion contracture, Diaphragmatic eventrati... OMIM:616866
Glycogen Storage Disease Iii
Ventricular hypertrophy, Cardiomyopathy, Myopathy, Distal amyotrophy OMIM:232400
Duchenne And Becker Muscular Dystrophy
Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Myopathy ORPHA:262
Combined Oxidative Phosphorylation Deficiency 23
Arrhythmia, Cardiomyopathy, Congestive heart failure OMIM:616198
Short Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Myopathy ORPHA:26792
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Muscular dystrophy, Sudden card... ORPHA:300751
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy, Myopathy OMIM:617713
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Arrhythmia, Abnormal heart valve morphology, Hypertension, Hypertrophic cardi... ORPHA:1345
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
EMG: myopathic abnormalities, Left ventricular hypertrophy, Heart murmur, Ragged-red muscle fiber... OMIM:615418
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:261
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Sudden cardiac death, Myocarditis, Hypertrophic cardiomyopathy, Congestive h... OMIM:617222
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Arrhythmia, Ragged-red muscle fibers, Limb muscle weakness, Dysphag... OMIM:609286
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy OMIM:614053
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Left ventricular noncompaction, Aortic regurgitation, Hypertrophic cardiomyopathy, Tricuspid regu... OMIM:616501
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Atrioventricular block, Left bundle branch block, Congestive heart fail... OMIM:115197
Muscular Dystrophy, Duchenne Type
Hamstring contractures, Flexion contracture, Calf muscle hypertrophy, Muscular dystrophy, Arrhyth... OMIM:310200
Indomethacin Embryofetopathy
Ventricular septal defect, Atrial septal defect, Cardiomyopathy ORPHA:1909
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Myopathy, Nemaline bodies, Cardiomyopathy, Flexion contracture OMIM:616549
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Myofiber disarra... OMIM:600858
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
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Cardiomyopathy, Neonatal death OMIM:619003
X-Linked Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98863
Uruguay Faciocardiomusculoskeletal Syndrome
Joint contracture of the hand, Skeletal muscle hypertrophy, Camptodactyly of toe, Mitral regurgit... OMIM:300280
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Muscle fiber necrosis, Muscle fiber atrophy, Weakness of facial musculature, EMG: myopathic abnor... OMIM:258450
Cardiomyopathy, Familial Hypertrophic, 13
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... OMIM:613243
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ragged-red muscle fibers, Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy, Cong... ORPHA:1349
Fanconi Anemia, Complementation Group O
Miscarriage, Small thenar eminence, Neonatal death, Death in infancy, Abnormal heart morphology OMIM:613390
Amyloidosis, Finnish Type
Cardiac amyloidosis, Cardiomyopathy OMIM:105120
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... OMIM:613426
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Dilated cardiomyopathy, Congestive heart failure OMIM:614672
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy ORPHA:254857
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Dysphagia, Hypertrophic cardiomyopathy, Generalized amyotrophy OMIM:613561
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Macroglossia, Hypotension, Shortened PR interval, Biventricular hypertr... OMIM:261740
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Glycogen accumulation in muscle fiber lysosomes, Increased muscle glycogen content, Tachycardia, ... ORPHA:368
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... OMIM:601154
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, Fa... ORPHA:52430
Familial Cutaneous Collagenoma
Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure ORPHA:53296
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Arrhythmia, Cardiomyopathy, Congestive heart failure OMIM:602390
Cardiomyopathy, Familial Hypertrophic, 2
Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, Atrial fibrillation, ... OMIM:115195
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Hypertrophic cardiomyopathy, Skeletal muscle atrophy OMIM:616896
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Polymorp... OMIM:115000
Heart Block, Congenital
Myocardial fibrosis, Absent atrioventricular node, Atrial arrhythmia, Mitral regurgitation, Cardi... OMIM:234700
Attrv30M Amyloidosis
Cardiomegaly, Arrhythmia, Cardiomyopathy, Atrioventricular block ORPHA:85447
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... OMIM:604145
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Tricuspid regurgitation, Left ventricular hypertrophy, Left ventricular noncompaction, Mitral reg... OMIM:619167
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Neonatal death OMIM:601612
Naxos Disease
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... OMIM:601214
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Permanent atrial fibrillation, Right atrial enlargement, Left bun... OMIM:617047
Propionic Acidemia
Arrhythmia, Cardiomyopathy ORPHA:35
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... OMIM:619747
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Cardiomyopathy, Hypertension OMIM:102200
Refsum Disease, Classic
Arrhythmia, Limb muscle weakness, Cardiomyopathy, Cardiomegaly, Congestive heart failure OMIM:266500
Autosomal Dominant Optic Atrophy Plus Syndrome
Limb-girdle muscle weakness, Cardiomyopathy, Myopathy ORPHA:1215
Naxos Disease
Sudden cardiac death, Paroxysmal ventricular tachycardia, Arrhythmia, Cardiomyopathy, Congestive ... ORPHA:34217
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hypotension, Rhabdomyolysis, Ventricular tachycardia, Ventricu... OMIM:212138
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Skeletal muscle atrophy, Neonatal death, Arthrogryposis multiplex ... OMIM:253310
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Rhabdomyolysis, Neonatal death OMIM:602199
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Polymyositis
Abnormal mitral valve morphology, Abnormal muscle fiber morphology, Arrhythmia, Vasculitis, Myoca... ORPHA:732
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Abnormality of the shoulder girdle musculature, Abnormality of the calf musculat... ORPHA:565612
Atrial Standstill 2
Atrial arrhythmia, Atrial standstill, Palpitations, Absent P wave, Atrial cardiomyopathy, Dilatat... OMIM:615745
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy ORPHA:67048
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Hemochromatosis, Type 2B
Cardiomyopathy, Congestive heart failure OMIM:613313
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Cardiomyopathy ORPHA:3222
Cardiomyopathy, Dilated, 1Y
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Increased left ventricular e... OMIM:611878
Glycogen Storage Disease Iv
Cardiomyopathy, Skeletal muscle atrophy, Portal hypertension, Arthrogryposis multiplex congenita OMIM:232500
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Pulmonic stenosis, Situs inversus totalis, Hypertrophic cardiomyopathy, St... OMIM:615415
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Arrhythmia, Rhabdomyolysis, Ventricular hypertrophy, Cardiomyopathy, Myopathy ORPHA:228305
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy OMIM:520000
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Arrhythmia, Ventricular septal defect, Situs inversus totalis, Cardiomyopathy OMIM:249270
Kearns-Sayre Syndrome
Third degree atrioventricular block, Ragged-red muscle fibers, Arrhythmia, Cardiomyopathy OMIM:530000
Meacham Syndrome
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... OMIM:608978
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Abnormal left ventricular function, Right atrial enlargement, Pulmon... ORPHA:75249
Peroxisome Biogenesis Disorder 9B
Cardiomyopathy OMIM:614879
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Vasculitis, Atrial fibrillation, Cardi... OMIM:115250
Congenital Muscular Dystrophy With Cerebellar Involvement
Reduced muscle fiber alpha dystroglycan, Hypoglycosylation of alpha-dystroglycan, Macroglossia, S... ORPHA:370959
Mcleod Syndrome
Rhabdomyolysis, Dilated cardiomyopathy, Atrial fibrillation, Cardiomyopathy, Myopathy OMIM:300842
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Lower limb muscle weakness, Dilatation of the ventricular cavity, Distal lower limb muscle weakne... ORPHA:363623
Primary Lipodystrophy
Angina pectoris, Skeletal muscle hypertrophy, Hypertension, Cardiomyopathy, Myopathy, Congestive ... ORPHA:90970
Hemochromatosis, Type 4
Arrhythmia, Cardiomyopathy OMIM:606069
Oculopharyngodistal Myopathy 1
Hypertrophic cardiomyopathy, EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability... OMIM:164310
Combined Oxidative Phosphorylation Deficiency 11
Cardiomyopathy, Death in infancy, Myopathy OMIM:614922
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Endocardial fibroelastosis OMIM:276822
Combined Oxidative Phosphorylation Deficiency 42
Cardiomyopathy, Neonatal death, Death in infancy OMIM:618839
Hurler-Scheie Syndrome
Abnormal heart valve morphology, Cardiomyopathy ORPHA:93476
Infantile Refsum Disease
Facial palsy, Arrhythmia, Cardiomyopathy ORPHA:772
Neuraminidase Deficiency
Skeletal muscle atrophy, Cardiomyopathy, Cardiomegaly OMIM:256550
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Left ventricular hypertrophy, Mitral regurgitation, Arrhythmia, Lower li... ORPHA:746
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, Hip contracture, Left ventricular hypertrophy, Facial palsy, Scapular winging, T... ORPHA:169186
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscle fiber atrophy, Macroglossia, Flexion contracture, Absent muscle fiber merosin, Muscular dy... ORPHA:258
Neutral Lipid Storage Myopathy
Hand muscle weakness, Rimmed vacuoles, Pelvic girdle muscle weakness, Foot dorsiflexor weakness, ... ORPHA:98908
Polyarteritis Nodosa
Hypertension, Pericarditis, Cardiomyopathy, Raynaud phenomenon ORPHA:767
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Cardiomyopathy, Death in infancy OMIM:619046
Cyclic Vomiting Syndrome
Cardiomyopathy OMIM:500007
Hemochromatosis, Type 3
Cardiomyopathy OMIM:604250
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... ORPHA:216694
Multiple Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Increased intramyocellular lipid droplets, Rhabdomyolysis, Dysphagia, Scapular wingin... ORPHA:26791
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Systolic heart murmur, Decreased QRS voltage, Reduced left ventric... ORPHA:75565
Visceral Steatosis, Congenital
Myocardial steatosis, Neonatal death OMIM:228100
Alg1-Cdg
Cardiomyopathy, Abnormal heart morphology ORPHA:79327
Hec Syndrome
Arrhythmia, Cardiomyopathy, Endocardial fibroelastosis ORPHA:2119
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy OMIM:600721
Alg3-Cdg
Macroglossia, Cardiomyopathy, Arthrogryposis multiplex congenita ORPHA:79321
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Limb hypertonia, Skeletal muscle atrophy, Cardiomyopathy, Generalized amyotrophy OMIM:617710
Autosomal Dominant Centronuclear Myopathy
Miscarriage, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, EMG: myopathic abn... ORPHA:169189
Hemochromatosis, Type 1
Arrhythmia, Telangiectasia, Cardiomyopathy, Cardiomegaly, Congestive heart failure OMIM:235200
Juvenile Dermatomyositis
Angina pectoris, Telangiectasia of the skin, Bundle branch block, Mucosal telangiectasiae, Arrhyt... ORPHA:93672
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Limb muscle weakness, Cardiomyopathy, Cardiomegaly, Congestive heart failure OMIM:619259
Carnitine-Acylcarnitine Translocase Deficiency
Arrhythmia, Hypotension, Rhabdomyolysis, Ventricular tachycardia, Cardiomyopathy ORPHA:159
Pyruvate Dehydrogenase E3 Deficiency
Abnormal cardiac ventricular function, Cardiomyopathy ORPHA:2394
Refsum Disease
Heart block, Skeletal muscle atrophy, Cardiomyopathy ORPHA:773
Symptomatic Form Of Hemochromatosis Type 1
Decreased muscle mass, Arrhythmia, Elevated jugular venous pressure, Portal hypertension, Cardiom... ORPHA:465508
Gm1 Gangliosidosis
Abnormal heart morphology, Oral aversion, Macroglossia, Camptodactyly of finger, Aplasia/Hypoplas... ORPHA:354
Neutral Lipid Storage Disease With Ichthyosis
EMG: myopathic abnormalities, Increased intramyocellular lipid droplets, Shoulder girdle muscle w... ORPHA:98907
Infantile Liver Failure Syndrome 2
Cardiomyopathy OMIM:616483
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Limb-girdle muscle weakness, Increased sarcoplasmic glycogen, Rhabdomyolysis, Ventricular septal ... ORPHA:370
American Trypanosomiasis
Arrhythmia, Cardiomyopathy, Myocarditis, Congestive heart failure ORPHA:3386
Myopathy, Centronuclear, 2
Flexion contracture, EMG: myopathic abnormalities, Scapular winging, Facial palsy, Centrally nucl... OMIM:255200
Developmental And Epileptic Encephalopathy 75
Cardiomyopathy OMIM:618437
Propionic Acidemia
Limb hypertonia, Cardiomyopathy, Cerebellar hemorrhage OMIM:606054
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy ORPHA:79312
Acquired Generalized Lipodystrophy
Calf muscle pseudohypertrophy, Abnormal cardiovascular system physiology, Hypertension, Cardiomyo... ORPHA:79086
Amyloidosis, Hereditary, Transthyretin-Related
Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy, Cardiomegaly OMIM:105210
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Raynaud phenomenon, Hypertension, Weakness of facial musculature, Retinal neovascularization, Gas... ORPHA:247691
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy ORPHA:27
Noonan Syndrome 2
Mitral stenosis, Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricu... OMIM:605275
Friedreich Ataxia
Dysphagia, Hand muscle atrophy, Cardiomyopathy ORPHA:95
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Mitral regurgitation, Cardiomyopathy, Endocardial fibroelastosis OMIM:226100
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Camptodactyly of toe, Impaired myocardial contractility, Cardiomyopathy, Cardi... ORPHA:158687
Melas
Wolff-Parkinson-White syndrome, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... ORPHA:550
Wolfram Syndrome 1
Dysphagia, Cardiomyopathy OMIM:222300
Vici Syndrome
Left ventricular hypertrophy, Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Congestive heart ... OMIM:242840
Vici Syndrome
Cardiomyopathy, Death in infancy ORPHA:1493
S-Adenosylhomocysteine Hydrolase Deficiency
Muscular dystrophy, Cardiomyopathy ORPHA:88618
Mucolipidosis Type Ii
Diastasis recti, Hip contracture, Abnormal mitral valve morphology, Telangiectases of the cheeks,... ORPHA:576
Wars2-Related Combined Oxidative Phosphorylation Defect
Dysphagia, Limb hypertonia, Cardiomyopathy, Generalized amyotrophy ORPHA:572798
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Dilated cardiomyopathy, Skeletal muscle atrophy, Cardiomyopathy, Congestive heart f... OMIM:615895
Hurler Syndrome
Angina pectoris, Macroglossia, Camptodactyly of finger, Endocardial fibroelastosis, Death in infa... ORPHA:93473
Carnitine Palmitoyltransferase Ii Deficiency
Rhabdomyolysis, Arrhythmia, Cardiomyopathy, Myopathy ORPHA:157
Wolfram Syndrome
Gastrointestinal hemorrhage, Polydipsia, Cardiomyopathy, Myopathy ORPHA:3463
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cardiomyopathy, Cerebellar hemorrhage OMIM:251000
Congenital Enterovirus Infection
Hypotension, Pericardial effusion, Cardiomyopathy, Myocarditis ORPHA:292
Penoscrotal Transposition
Cardiomyopathy ORPHA:2842
Congenital Disorder Of Glycosylation, Type Ia
Flexion contracture, Death in childhood, Pericardial effusion, Death in infancy, Pericarditis, Ca... OMIM:212065
Mucopolysaccharidosis, Type Vii
Abnormal heart valve morphology, Macroglossia, Cardiomyopathy, Flexion contracture OMIM:253220
Hurler Syndrome
Macroglossia, Flexion contracture, Mitral regurgitation, Endocardial fibroelastosis, Aortic regur... OMIM:607014
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Arrhythmia, Cardiac conduction abnormality, Dysphagia, Facial hypotonia, Cardiom... ORPHA:2131
Agel Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Facial palsy, Arrhythmia, Cardiomyopathy ORPHA:85448
Von Hippel-Lindau Disease
Abnormal left ventricular function, Palpitations, Arrhythmia, Myocarditis, Myocardial infarction,... ORPHA:892
Rabson-Mendenhall Syndrome
Polydipsia, Atrial septal defect, Macroglossia, Ventricular septal defect, Cardiomyopathy ORPHA:769
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Cardiomyopathy ORPHA:264580
Mucopolysaccharidosis, Type Vi
Mitral stenosis, Tricuspid regurgitation, Macroglossia, Flexion contracture, Mitral regurgitation... OMIM:253200
Hermansky-Pudlak Syndrome 1
Epistaxis, Cardiomyopathy, Hematochezia OMIM:203300
Homozygous Familial Hypercholesterolemia
Angina pectoris, Abnormal left ventricular function, Abnormal tendon morphology, Sudden cardiac d... ORPHA:391665
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Arrhythmia, Abnormal myocardium morphology, Heart block, Cardiomyopathy, Cardiomegaly ORPHA:228308
Lipodystrophy, Congenital Generalized, Type 1
Polyphagia, Cardiomyopathy, Generalized muscular appearance from birth OMIM:608594
Mucopolysaccharidosis Type 2
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Flexion contracture of dig... ORPHA:580
Gm1 Gangliosidosis Type 1
Cardiomyopathy, Macroglossia ORPHA:79255
Simpson-Golabi-Behmel Syndrome
Bundle branch block, Atrial septal defect, Congenital diaphragmatic hernia, Macroglossia, Aplasia... ORPHA:373
Mucopolysaccharidosis Type 2, Severe Form
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Macroglossia, Flexion cont... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Macroglossia, Flexion cont... ORPHA:217093
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Cardiomyopathy OMIM:616084
Primary Hyperoxaluria
Intermittent claudication, Raynaud phenomenon, Heart block, Cardiomyopathy, Arterial occlusion ORPHA:416
Beckwith-Wiedemann Syndrome
Diastasis recti, Cardiomegaly, Cardiomyopathy, Macroglossia OMIM:130650
Postinfectious Vasculitis
Bacterial endocarditis, Vasculitis in the skin, Raynaud phenomenon, Cerebral vasculitis, Hyperten... ORPHA:48435
Simpson-Golabi-Behmel Syndrome, Type 1
Diastasis recti, Atrial septal defect, Congenital diaphragmatic hernia, Macroglossia, Right ventr... OMIM:312870

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 Bin1

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 Bin1.

No publications found that use IMPC mice or data for Bin1.

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MGI Allele Allele Type Produced
Bin1tm380158(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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