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
Muscle fiber cytoplasmatic inclusion bodies, Achilles tendon contracture, Cardiomyopathy, Distal ... OMIM:609200
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
EMG: myopathic abnormalities, Cardiomyopathy, Limb-girdle muscle atrophy, Limb-girdle muscular dy... OMIM:608099
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Proximal muscle weakness in lower limbs, Weakness of facial musculature, Hip flexor weakness, Car... ORPHA:63273
Myopathy, Autophagic Vacuolar, Infantile-Onset
Autophagic vacuoles, Myopathy, Hypertrophic cardiomyopathy OMIM:609500
Gne Myopathy
Abnormal right hemidiaphragm morphology, Lower limb amyotrophy, Hip flexor weakness, Shoulder gir... ORPHA:602
His Bundle Tachycardia
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia ORPHA:3283
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Cardiomyopathy, Left atrial enlargement, Decreased muscle glycogen ... OMIM:611556
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Lethal Congenital Contracture Syndrome 3
Multiple joint contractures, Neonatal death, Skeletal muscle atrophy, Arthrogryposis multiplex co... OMIM:611369
Myopathy, Distal, 4
Myopathy, Skeletal muscle atrophy, Distal upper limb amyotrophy, Cardiomyopathy, Distal lower lim... OMIM:614065
Alpha-B Crystallin-Related Late-Onset Myopathy
Dysphagia, Autophagic vacuoles, Facial diplegia, EMG: myopathic abnormalities, Cardiomyopathy, In... ORPHA:399058
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy, Asymmetric septal hypertrophy OMIM:212130
Distal Nebulin Myopathy
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Weakness of facial musculature... ORPHA:399103
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Rimmed vacuoles, Flexion contracture, Scapular winging, Arrhythmia OMIM:300696
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... OMIM:613424
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... OMIM:601493
Nemaline Myopathy 11, Autosomal Recessive
Scapular winging, Nemaline bodies, Facial palsy, Cardiomyopathy OMIM:617336
Cardiomyopathy, familial hypertrophic, 19
Asymmetric septal hypertrophy OMIM:613875
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Proximal amyotrophy, Dilated cardiomyopathy, Shoulder girdle muscle atrophy, Muscular dystrophy, ... OMIM:604286
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Myopathy, Dysphagia, Supraventricular tachycardia, Cardiomyopathy, Fatty replacement of skeletal ... OMIM:255100
Cardiac Lipidosis, Familial
Congestive heart failure, Death in infancy, Cardiomyopathy OMIM:212080
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Arrhythmia OMIM:612098
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy OMIM:115195
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy OMIM:115196
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy, Cardiomyopathy OMIM:225740
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy OMIM:616500
Cardiomyopathy, Familial Hypertrophic, 14
Hypertrophic cardiomyopathy OMIM:613251
Cardiomyopathy, Familial Restrictive, 3
Cardiomyopathy OMIM:612422
Distal Myotilinopathy
Abnormal muscle fiber myotilin, Cardiomyopathy, EMG: myopathic abnormalities, Distal amyotrophy, ... ORPHA:98911
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... OMIM:602087
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... OMIM:115210
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Weakness of the intrinsic hand muscles, Wrist drop, Cardiomyopathy, Heart block, Leg muscle stiff... ORPHA:98912
Muscular Dystrophy, Becker Type
Cardiomyopathy, Muscular dystrophy, Calf muscle pseudohypertrophy, Abnormal EKG, Arrhythmia OMIM:300376
Myopathy, Myofibrillar, 2
Hypertrophic cardiomyopathy, Autophagic vacuoles, EMG: myopathic abnormalities, Muscular dystroph... OMIM:608810
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Abnormal left ventricular function, Mitral regurgitation, Congestive hear... OMIM:615373
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy OMIM:613752
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... OMIM:602086
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... ORPHA:206549
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... OMIM:619566
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Peroneal muscle atrophy, Peroneal muscle weakness, Dilated cardiomyopathy, Sudden cardiac death, ... OMIM:181350
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Atrial fibrillation, Atrioventricular block, Endoca... OMIM:612158
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Arrhythmia, Mitral valve prolapse, Cardiomyopathy OMIM:614676
Myopathy, Myofibrillar, 4
Autophagic vacuoles, EMG: myopathic abnormalities, Cardiomyopathy, Muscle fiber splitting, Myofib... OMIM:609452
Myopathy, Distal, 1
Dilated cardiomyopathy, Toe extensor amyotrophy, Ragged-red muscle fibers, Facial palsy, Rimmed v... OMIM:160500
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Proximal amyotrophy, Muscular dystrophy, Arrhythmia, Cardiomyopathy OMIM:612999
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Reduced muscle fiber merosin, Shoulder gir... ORPHA:34515
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Distal lower limb muscle weakness, Cardiomyopathy, Supraventricular arrhythmia, Leg muscle stiffness ORPHA:320360
Endocardial Fibroelastosis
Congestive heart failure, Endocardial fibroelastosis, Cardiomyopathy OMIM:226000
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Endocardial fibroelastosis, Impaired myocardial contractility OMIM:607482
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Limb-girdle muscle weakness, Flexion contracture, Cardiomyopathy OMIM:609308
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia OMIM:107970
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hypertrophic cardiomyopathy, Abnormal heart morphology OMIM:618250
Myopathy, Myosin Storage, Autosomal Recessive
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Scapuloperoneal amyotrophy, EMG: myopathic a... OMIM:255160
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Cardiomyopathy, Abnormal EKG OMIM:309930
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... OMIM:601494
Cardiomyopathy, Familial Hypertrophic, 15
Hypertrophic cardiomyopathy, Congestive heart failure, Endocardial fibrosis OMIM:613255
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613874
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy ORPHA:79281
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Global systolic dysfunction, Cardiomyopathy, Limb muscle weakness OMIM:606842
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Dysphagia, Skeletal muscle fibrosis, Rimmed vacuoles, Increased... ORPHA:34516
Cardiomyopathy, Familial Hypertrophic, 28
Concentric hypertrophic cardiomyopathy, Left atrial enlargement, Systolic anterior motion of the ... OMIM:619402
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... OMIM:610476
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy, Myopathy, Increased muscle lipid content, EMG: myopathic abnormalities, N... ORPHA:171442
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Atrial fibrillation, Mitral regurgitation, V... OMIM:615248
Cardiomyopathy, Familial Hypertrophic, 25
Left ventricular hypertrophy, Dilated cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:607487
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Dpm3-Cdg
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Calf ... ORPHA:263494
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Absent muscle dystrophin expression, Abnormality of the shoulder girdle m... ORPHA:206546
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy, Myopathy, Rimmed vacuoles, Limb-girdle muscular dystrophy, Increased vari... OMIM:612937
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613876
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Palpitations, Cardiomyopathy, Left ventricular hypertrophy, Myocardial f... OMIM:613873
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Palpitations, Ventricular hypertrophy, Ventricular tachycardia, EMG: myopa... ORPHA:263297
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Hypertrophic cardiomyopathy, Endocardial fibrosis, Palpitations, Restric... OMIM:608751
Giant Axonal Neuropathy 2, Autosomal Dominant
Cardiomyopathy, Distal amyotrophy OMIM:610100
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Cardiomyopathy OMIM:615352
Salih Myopathy
Dilated cardiomyopathy, Myopathy, Facial palsy, Calf muscle hypertrophy, Flexion contracture, Cen... OMIM:611705
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Death in infancy OMIM:618235
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Dilated cardiomyopathy, Left atrial enlargement, Hypertrophic cardiomyopathy, Left ventricular no... OMIM:619424
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Triceps weakness, Generalized amyotrophy, Cardiomyopathy, Left ventricular hypertrophy,... ORPHA:86812
Triose Phosphate-Isomerase Deficiency
Hypertrophic cardiomyopathy, Skeletal muscle atrophy ORPHA:868
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Proximal amyotrophy, Dilated cardiomyopathy, Scapuloperoneal amyotrophy, Left ventricular systoli... ORPHA:206559
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Myopathy, Facial palsy, Type 1 fibers relatively smaller than type 2 fibe... OMIM:300580
Myopathy, Myofibrillar, 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... OMIM:601419
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Macroglossia, Facial palsy, Cardiomyopathy, Congenital muscular dystrophy, Muscular dystrophy, Fl... OMIM:613155
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Increased variability in muscle fiber diameter, Flexion contracture OMIM:300718
Childhood-Onset Nemaline Myopathy
Generalized limb muscle atrophy, Increased muscle lipid content, Myopathy, Limb muscle weakness, ... ORPHA:171439
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy OMIM:615395
Atrial Standstill
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... ORPHA:1344
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Myopathy, Myofibrillar, 6
Hypertrophic cardiomyopathy, Facial palsy, Generalized amyotrophy, EMG: myopathic abnormalities, ... OMIM:612954
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:604765
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Syncope, Congestive heart failure OMIM:613694
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Syncope, Congestive heart failure OMIM:613697
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:606685
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia OMIM:609909
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Cardiomyopathy, Atrial fibrillation OMIM:613690
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Triangular tongue, Dilated cardiomyopathy, Skeletal muscle atrophy, Macroglossia, Muscular dystro... OMIM:616827
Neutral Lipid Storage Disease With Myopathy
Myopathy, Increased muscle lipid content, Cardiomyopathy OMIM:610717
Atrial Standstill 1
Atrial standstill, Ventricular escape rhythm, Endocardial fibroelastosis, Atrial cardiomyopathy, ... OMIM:108770
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy OMIM:610140
Laing Early-Onset Distal Myopathy
Dilated cardiomyopathy, Proximal muscle weakness in lower limbs, Abnormal mitochondria in muscle ... ORPHA:59135
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myopathy, Pelvic girdle muscle weakness, Cardiomyopathy, Calf muscle hypertrophy, Increased varia... ORPHA:119
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:617228
Loeffler Endocarditis
Left atrial enlargement, Pericarditis, Endocardial fibrosis, Mitral regurgitation, Abnormal morph... ORPHA:75566
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Myopathy, Facial palsy, Cardiomyopathy, Flexion contracture OMIM:201470
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Congestive heart failure, Sudden cardiac death OMIM:613172
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy OMIM:609016
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy ORPHA:154
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Myopathy, Congestive heart failure OMIM:618234
Muscular Dystrophy, Congenital, Megaconial Type
Dilated cardiomyopathy, Myopathy, Facial palsy, Congenital muscular dystrophy, Muscular dystrophy OMIM:602541
Cardiomyopathy, Familial Hypertrophic, 1
Arrhythmia, Congestive heart failure, Asymmetric septal hypertrophy, Subvalvular aortic stenosis OMIM:192600
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Palpitations, Ventricu... OMIM:608758
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Ragg... OMIM:252011
Danon Disease
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Generalized amyotrophy, EMG: myopathic abnor... OMIM:300257
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... OMIM:600884
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Myopathy ORPHA:1369
Arthrogryposis Multiplex Congenita 6
Death in infancy, Neonatal death, Arthrogryposis multiplex congenita, Increased variability in mu... OMIM:619334
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... ORPHA:168796
Autosomal Recessive Progressive External Ophthalmoplegia
Myopathy, Ragged-red muscle fibers, Hand muscle weakness, Dysphagia, Facial palsy, Cardiomyopathy... ORPHA:254886
Congenital Disorder Of Glycosylation, Type Ik
Death in infancy, Cardiomyopathy, Flexion contracture OMIM:608540
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Myopathy, Low-output congestive heart failure ORPHA:91130
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Death in infancy OMIM:614096
Developmental And Epileptic Encephalopathy 35
Death in infancy, Cardiomyopathy OMIM:616647
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Dysphagia, Ragged-red muscle fibers, Mitral valve prolapse, Mitral regurgitation, Generalized amy... OMIM:258450
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Ventricular tachycardia, Left bundle branch block, Left ventricular hypertro... OMIM:613838
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Duchenne Muscular Dystrophy
Cardiomyopathy, Skeletal muscle atrophy, Calf muscle hypertrophy, Flexion contracture ORPHA:98896
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Death in infancy, Reduced ejection fraction, Mitral regurgitation, Pulmon... OMIM:619371
Cardiomyopathy, Dilated, 2C
Dilated cardiomyopathy, Pulmonary arterial hypertension, Reduced ejection fraction OMIM:618189
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Atrial fibrillation, Do... OMIM:617912
Mitochondrial Complex I Deficiency, Nuclear Type 14
Hypertrophic cardiomyopathy, Myopathy OMIM:618236
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Death in infancy, Bradycardia, Flexion contr... OMIM:618815
Cardiomyopathy, Familial Restrictive, 6
Pulmonary insufficiency, Death in infancy, Restrictive cardiomyopathy, Tricuspid regurgitation, P... OMIM:619433
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Syncope, Myopathy, Pericardial effusion, Ventricular hypertrophy, At... OMIM:115197
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy OMIM:613642
Cardiomyopathy, Dilated, 3B
Dilated cardiomyopathy OMIM:302045
Cardiomyopathy, Dilated, 1Cc
Dilated cardiomyopathy OMIM:613122
Cardiomyopathy, Dilated, 1Ee
Dilated cardiomyopathy OMIM:613252
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy OMIM:611879
Cardiomyopathy, Dilated, 1W
Dilated cardiomyopathy OMIM:611407
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy OMIM:613286
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy OMIM:612877
Cardiomyopathy, Dilated, 1Jj
Dilated cardiomyopathy OMIM:615235
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... OMIM:611528
Microcephaly 13, Primary, Autosomal Recessive
Cardiomyopathy OMIM:616051
Attrv122I Amyloidosis
Cardiac amyloidosis, Hypertrophic cardiomyopathy, Tendon rupture, Reduced ejection fraction, Angi... ORPHA:85451
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Tricuspid regurgitation, C... OMIM:613426
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy OMIM:615119
Coenzyme Q10 Deficiency, Primary, 7
Hypertrophic cardiomyopathy, Dysphagia, Hypoplastic left heart, Bradycardia OMIM:616276
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supra... ORPHA:45453
Cardiomyopathy, Familial Hypertrophic, 12
Ventricular tachycardia, Paroxysmal atrial fibrillation, Cardiomyopathy, Sudden cardiac death OMIM:612124
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Death in childhood OMIM:618683
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Dysphagia, Skeletal muscle atrophy, Weakness of facial musculature, Limb muscle weakness, Cardiom... ORPHA:329336
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte hypertrophy, Death in adolescence,... OMIM:605676
Glycogen Storage Disease Iii
Ventricular hypertrophy, Myopathy, Cardiomyopathy, Distal amyotrophy OMIM:232400
Duchenne And Becker Muscular Dystrophy
Hypertrophic cardiomyopathy, Myopathy, Skeletal muscle atrophy ORPHA:262
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Muscular dystrophy, Congestive heart failure, Flexion con... OMIM:310200
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Arrhythmia, Cardiomyopathy OMIM:616198
Short Chain Acyl-Coa Dehydrogenase Deficiency
Myopathy, Cardiomyopathy ORPHA:26792
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Pericardial effusion, Ventricular arrhythmia, Atrial fibrillatio... ORPHA:300751
Sick Sinus Syndrome 2
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... OMIM:163800
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Death in infancy, Ebstein anomaly of the tricuspid valve, Death in childh... OMIM:619492
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Skeletal muscle atrophy, Achilles tendon c... OMIM:615418
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Myopathy, Cardiomegaly, Cardiomyopathy OMIM:617713
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Dysphagia, Skeletal muscle atrophy, Tachycardia, Glycogen accumulati... ORPHA:368
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Dysphagia, Ragged-red muscle fibers, Limb muscle weakness, Cardiomyopathy, EMG: myopathic abnorma... OMIM:609286
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Hypertrophic cardiomyopathy, Hypertension, Abnormal heart valve morphology, Congestive heart fail... ORPHA:1345
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, ... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, ... ORPHA:261
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... OMIM:604400
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Reduced ejection fraction, Aortic regurgitation, Tricuspid regurgita... OMIM:616501
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy OMIM:614053
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Dysphagia, Generalized amyotrophy, Arthrogryposis multiplex congenita, Cardiomyopathy, Muscle fib... OMIM:616866
Sarcosinemia
Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis ORPHA:3129
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Hypertrophic cardiomyopathy OMIM:617184
Sudden Cardiac Failure, Infantile
Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Congestive heart failure, Myocardial fibrosis OMIM:617222
Cardiomyopathy, Familial Hypertrophic, 6
Hypertrophic cardiomyopathy, Sinus bradycardia, Myofiber disarray, Atrial fibrillation, Ventricul... OMIM:600858
Barth Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Skeletal myopathy, Endocardial fibroelastosi... OMIM:302060
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Nemaline bodies, Myopathy, Cardiomyopathy, Flexion contracture OMIM:616549
Mitochondrial Complex I Deficiency, Nuclear Type 22
Hypertrophic cardiomyopathy OMIM:618243
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Amyloidosis, Finnish Type
Cardiac amyloidosis, Cardiomyopathy OMIM:105120
Indomethacin Embryofetopathy
Ventricular septal defect, Atrial septal defect, Cardiomyopathy ORPHA:1909
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dilated cardiomyopathy, Limb hypertonia, Congestive heart failure, Facial myokymia OMIM:606703
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertrophic cardiomyopathy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower li... ORPHA:98863
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Pulmonary arterial hypertension, Cardiomyopathy OMIM:619003
Cardiomyopathy, Familial Hypertrophic, 13
Hypertrophic cardiomyopathy, Syncope, Biventricular hypertrophy, Atrial fibrillation, ST segment ... OMIM:613243
Mcleod Syndrome
Dilated cardiomyopathy, Myopathy, Atrial fibrillation, Cardiomyopathy, Rhabdomyolysis OMIM:300842
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Cong... ORPHA:1349
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... OMIM:604772
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Hypertrophic cardiomyopathy, Dysphagia, Generalized amyotrophy OMIM:613561
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation OMIM:615184
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Right ventricular cardiomyopathy, Premature ventricular contraction OMIM:604401
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy ORPHA:254857
Muscular Hypoplasia, Congenital Universal, Of Krabbe
Abnormal muscle fiber morphology, Hypoplasia of the musculature OMIM:159100
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation OMIM:614672
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Myopathy, Endocardial fibroelastosis, Cardiomegaly, Reduced muscle c... OMIM:212140
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... OMIM:610193
Mitochondrial Complex I Deficiency, Nuclear Type 15
Hypertrophic cardiomyopathy, Myopathy, Flexion contracture OMIM:618237
Glycogen Storage Disease Of Heart, Lethal Congenital
Myopathy, Biventricular hypertrophy, Macroglossia, Cardiomegaly, Cardiomyopathy, Bradycardia, Con... OMIM:261740
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Generalized amyotrophy, EMG: myopathic abnormalities, Rimmed vacuoles, Cardiomyopathy, Congestive... ORPHA:52430
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis OMIM:607685
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... OMIM:604145
Naxos Disease
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... OMIM:601214
Uruguay Faciocardiomusculoskeletal Syndrome
Mitral regurgitation, Marked muscular hypertrophy, Ventricular hypertrophy, Joint contracture of ... OMIM:300280
Cardiomyopathy, Dilated, 1E
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... OMIM:601154
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomyopathy OMIM:602390
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... OMIM:607450
Heart Block, Congenital
Myocardial calcification, Mitral regurgitation, Atrioventricular block, Cardiomyopathy, Absent at... OMIM:234700
Familial Cutaneous Collagenoma
Congestive heart failure, Atrial septal defect, Cardiomyopathy, Angina pectoris ORPHA:53296
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Abnormal cardiac septum morphology OMIM:601612
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Mitral regurgitation, Neonatal death, Left ventricular systolic dysfuncti... OMIM:619167
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Torsade de pointes, Aborted sudden cardiac death, ... OMIM:115000
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiomyopathy ORPHA:85447
Propionic Acidemia
Arrhythmia, Cardiomyopathy ORPHA:35
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hypertrophic cardiomyopathy, Death in infancy, Abnormal aortic valve morphology, Congestive heart... ORPHA:1194
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Hypertrophic cardiomyopathy, Skeletal muscle atrophy OMIM:616896
Refsum Disease, Classic
Limb muscle weakness, Cardiomegaly, Cardiomyopathy, Congestive heart failure, Arrhythmia OMIM:266500
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation OMIM:611878
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Syncope, Ventricular arrhythmia, Palpitations, Dilatation of the ventricular cavity, Sudden cardi... OMIM:609040
Autosomal Dominant Optic Atrophy Plus Syndrome
Cardiomyopathy, Myopathy, Limb-girdle muscle weakness ORPHA:1215
Triglyceride Deposit Cardiomyovasculopathy
Increased muscle lipid content, Skeletal myopathy, Coronary artery stenosis, Palpitations, Low-ou... ORPHA:565612
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Neona... OMIM:253310
Naxos Disease
Paroxysmal ventricular tachycardia, Cardiomyopathy, Congestive heart failure, Sudden cardiac deat... ORPHA:34217
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Rhabdomyolysis OMIM:602199
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Hypertension, Cardiomyopathy OMIM:102200
Polymyositis
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal muscle fiber morphology, Pericardit... ORPHA:732
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Ventricular tachycardia, Atrioventricular block, Ventricular h... OMIM:212138
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Pericardial effus... OMIM:115200
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy ORPHA:67048
Atrial Standstill 2
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... OMIM:615745
Hemochromatosis, Type 2B
Congestive heart failure, Cardiomyopathy OMIM:613313
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Effort-induced polymorphic ventricular tachycardia, Right ventricular cardiomyopathy, Dilatation ... OMIM:600996
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Cardiomyopathy ORPHA:3222
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Myopathy, Ventricular hypertrophy, Cardiomyopathy, Rhabdomyolysis, Arrhythmia ORPHA:228305
Glycogen Storage Disease Iv
Cardiomyopathy, Portal hypertension, Skeletal muscle atrophy, Arthrogryposis multiplex congenita OMIM:232500
Renal-Hepatic-Pancreatic Dysplasia 2
Hypertrophic cardiomyopathy, Truncus arteriosus, Situs inversus totalis, Stillbirth, Pulmonic ste... OMIM:615415
Nephronophthisis 16
Hypertrophic cardiomyopathy, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis OMIM:615382
Kearns-Sayre Syndrome
Third degree atrioventricular block, Ragged-red muscle fibers, Arrhythmia, Cardiomyopathy OMIM:530000
Carnitine Palmitoyl Transferase 1A Deficiency
Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Arrhythmia, Sudden cardiac death ORPHA:156
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy OMIM:520000
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Arrhythmia OMIM:249270
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Syncope, Left atrial enlargement, Atrial fibrillation, Mitral regurg... ORPHA:75249
Collagenoma, Familial Cutaneous
Atrial fibrillation, Cardiomyopathy, Tricuspid regurgitation, Vasculitis, Congestive heart failur... OMIM:115250
Peroxisome Biogenesis Disorder 9B
Cardiomyopathy OMIM:614879
Congenital Muscular Dystrophy With Cerebellar Involvement
Skeletal muscle hypertrophy, Macroglossia, Cardiomyopathy, Reduced muscle fiber alpha dystroglyca... ORPHA:370959
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Right ventricular hypertrophy, Left ventricular hypertrophy, Congest... ORPHA:444013
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Death in infancy, Reduced ejection fraction, Cardiomegaly, Sudden ca... OMIM:201475
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Cardiomyopathy, Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavity, Di... ORPHA:363623
Combined Oxidative Phosphorylation Deficiency 11
Myopathy, Death in infancy, Cardiomyopathy OMIM:614922
Hemochromatosis, Type 4
Arrhythmia, Cardiomyopathy OMIM:606069
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... ORPHA:216694
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Death in infancy, Cardiomyopathy OMIM:618839
Oculopharyngodistal Myopathy 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Dysphagia, Autophagic vacuoles, Facial palsy... OMIM:164310
Ulnar Agenesis And Endocardial Fibroelastosis
Endocardial fibroelastosis, Neonatal death OMIM:276822
Primary Lipodystrophy
Hypertension, Myopathy, Skeletal muscle hypertrophy, Cardiomyopathy, Congestive heart failure, An... ORPHA:90970
Mitochondrial Trifunctional Protein Deficiency
Skeletal myopathy, Mitral regurgitation, Cardiomyopathy, Tricuspid regurgitation, Left ventricula... ORPHA:746
Meacham Syndrome
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Death in infancy, Neonatal death,... OMIM:608978
Infantile Refsum Disease
Arrhythmia, Facial palsy, Cardiomyopathy ORPHA:772
Hurler-Scheie Syndrome
Abnormal heart valve morphology, Cardiomyopathy ORPHA:93476
Multiple Acyl-Coa Dehydrogenase Deficiency
Dysphagia, Skeletal muscle atrophy, Abnormal heart morphology, Increased intramyocellular lipid d... ORPHA:26791
Coenzyme Q10 Deficiency, Primary, 1
Hypertrophic cardiomyopathy, Ragged-red muscle fibers OMIM:607426
Neutral Lipid Storage Myopathy
Pelvic girdle muscle weakness, Generalized limb muscle atrophy, Hand muscle weakness, Myopathy, I... ORPHA:98908
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Facial diplegia, Generalized amyotrophy, Facial palsy, Scapular winging, Left ve... ORPHA:169186
Neuraminidase Deficiency
Cardiomegaly, Skeletal muscle atrophy, Cardiomyopathy OMIM:256550
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Dysphagia, Absent muscle fiber merosin, Reduced ejection fraction, Myositis, Macroglossia, Pulmon... ORPHA:258
Cyclic Vomiting Syndrome
Cardiomyopathy OMIM:500007
Polyarteritis Nodosa
Hypertension, Pericarditis, Cardiomyopathy, Raynaud phenomenon ORPHA:767
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Death in infancy, Cardiomyopathy OMIM:619046
Hemochromatosis, Type 3
Cardiomyopathy OMIM:604250
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy, Neonatal death, Death in infancy OMIM:618835
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Abnormal EKG, Abnormal P wave, Reduced ejection fraction, Mitral regurgi... ORPHA:75565
Visceral Steatosis, Congenital
Myocardial steatosis, Neonatal death OMIM:228100
Neutral Lipid Storage Disease With Ichthyosis
Myopathy, Increased intramyocellular lipid droplets, Cardiomyopathy, EMG: myopathic abnormalities... ORPHA:98907
Hec Syndrome
Endocardial fibroelastosis, Arrhythmia, Cardiomyopathy ORPHA:2119
Alg3-Cdg
Macroglossia, Cardiomyopathy, Arthrogryposis multiplex congenita ORPHA:79321
Alg1-Cdg
Abnormal heart morphology, Cardiomyopathy ORPHA:79327
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Abnormal heart morphology, Increased sarcoplasmic glycogen, Ventricular ... ORPHA:370
Juvenile Dermatomyositis
Dysphagia, Calcinosis, Pericarditis, Myositis, Telangiectasia of the skin, Cardiomyopathy, Bundle... ORPHA:93672
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy OMIM:600721
Hemochromatosis, Type 1
Telangiectasia, Cardiomegaly, Cardiomyopathy, Congestive heart failure, Arrhythmia OMIM:235200
Myopathy, Centronuclear, 2
Generalized amyotrophy, EMG: myopathic abnormalities, Facial palsy, Scapular winging, Flexion con... OMIM:255200
Symptomatic Form Of Hemochromatosis Type 1
Decreased muscle mass, Elevated jugular venous pressure, Cardiomegaly, Cardiomyopathy, Congestive... ORPHA:465508
Pyruvate Dehydrogenase E3 Deficiency
Abnormal cardiac ventricular function, Cardiomyopathy ORPHA:2394
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular tachycardia, Cardiomyopathy, Rhabdomyolysis, Arrhythmia, Hypotension ORPHA:159
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Congestive heart failure, Cardiomegaly, Cardiomyopathy, Limb muscle weakness OMIM:619259
Gm1 Gangliosidosis
Aplasia/Hypoplasia of the abdominal wall musculature, Dysphagia, Ventricular septal defect, Macro... ORPHA:354
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cardiomyopathy, Limb hypertonia, Skeletal muscle atrophy OMIM:617710
Refsum Disease
Skeletal muscle atrophy, Cardiomyopathy, Heart block ORPHA:773
American Trypanosomiasis
Myocarditis, Arrhythmia, Congestive heart failure, Cardiomyopathy ORPHA:3386
Infantile Liver Failure Syndrome 2
Cardiomyopathy OMIM:616483
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy ORPHA:79312
Amyloidosis, Hereditary, Transthyretin-Related
Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly, Cardiomyopathy OMIM:105210
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Hypertension, Telangiectasia, Weakness of facial musculature, Cardiomyopathy, Raynaud phenomenon,... ORPHA:247691
Acquired Generalized Lipodystrophy
Hypertension, Myopathy, Cardiomyopathy, Abnormal cardiovascular system physiology, Calf muscle ps... ORPHA:79086
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Death in infancy, Cardiomyopathy OMIM:618321
Developmental And Epileptic Encephalopathy 75
Cardiomyopathy OMIM:618437
Propionic Acidemia
Limb hypertonia, Cardiomyopathy, Cerebellar hemorrhage OMIM:606054
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy ORPHA:27
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Cardiomegaly, Cardiomyopathy, Impaired myocardial contractility, Camptodactyly... ORPHA:158687
Melas
Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Abnormal mitochondria in muscle t... ORPHA:550
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Endocardial fibroelastosis, Cardiomyopathy, Mitral regurgitation OMIM:226100
Wolfram Syndrome 1
Dysphagia, Cardiomyopathy OMIM:222300
Vici Syndrome
Dilated cardiomyopathy, Myopathy, Cardiomyopathy, Left ventricular hypertrophy, Congestive heart ... OMIM:242840
Noonan Syndrome 2
Hypertrophic cardiomyopathy, Ventricular septal defect, Atrioventricular canal defect, Mitral ste... OMIM:605275
Friedreich Ataxia
Cardiomyopathy, Dysphagia, Hand muscle atrophy ORPHA:95
Vici Syndrome
Death in infancy, Cardiomyopathy ORPHA:1493
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cardiomyopathy, Cerebellar hemorrhage OMIM:251000
S-Adenosylhomocysteine Hydrolase Deficiency
Muscular dystrophy, Cardiomyopathy ORPHA:88618
Wars2-Related Combined Oxidative Phosphorylation Defect
Generalized amyotrophy, Dysphagia, Limb hypertonia, Cardiomyopathy ORPHA:572798
Mucolipidosis Type Ii
Pulmonary insufficiency, Hip contracture, Mitral regurgitation, Abnormal mitral valve morphology,... ORPHA:576
Carnitine Palmitoyltransferase Ii Deficiency
Myopathy, Rhabdomyolysis, Arrhythmia, Cardiomyopathy ORPHA:157
Hurler Syndrome
Hypertension, Death in infancy, Macroglossia, Endocardial fibroelastosis, Cardiomyopathy, Abnorma... ORPHA:93473
Wolfram Syndrome
Myopathy, Gastrointestinal hemorrhage, Cardiomyopathy, Polydipsia ORPHA:3463
Hurler Syndrome
Mitral regurgitation, Endocardial fibroelastosis, Aortic regurgitation, Cardiomyopathy, Flexion c... OMIM:607014
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Increased sarcoplasmic glycogen, Skeletal muscle atrophy, Cardiomyopathy ORPHA:264580
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in lower limbs, Abnormality of the foot musculature, EMG: myopathic abno... ORPHA:169189
Congenital Enterovirus Infection
Myocarditis, Cardiomyopathy, Pericardial effusion, Hypotension ORPHA:292
Hermansky-Pudlak Syndrome 1
Epistaxis, Cardiomyopathy, Hematochezia OMIM:203300
Penoscrotal Transposition
Cardiomyopathy ORPHA:2842
Mucopolysaccharidosis, Type Vii
Macroglossia, Abnormal heart valve morphology, Cardiomyopathy, Flexion contracture OMIM:253220
Mucopolysaccharidosis, Type Vi
Macroglossia, Abnormal heart valve morphology, Cardiomyopathy OMIM:253200
Alternating Hemiplegia Of Childhood
Dysphagia, Abnormal T-wave, Cardiac conduction abnormality, Facial hypotonia, Cardiomyopathy, Ora... ORPHA:2131
Agel Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Facial palsy, Cardiomyopathy ORPHA:85448
Von Hippel-Lindau Disease
Myocarditis, Hypertension, Palpitations, Cardiomyopathy, Myocardial infarction, Distal lower limb... ORPHA:892
Martsolf Syndrome 1
Congestive heart failure, Cardiac arrest, Cardiomyopathy OMIM:212720
Congenital Disorder Of Glycosylation, Type Ia
Cardiomyopathy, Pericardial effusion, Flexion contracture OMIM:212065
Rabson-Mendenhall Syndrome
Ventricular septal defect, Polydipsia, Macroglossia, Cardiomyopathy, Atrial septal defect ORPHA:769
Homozygous Familial Hypercholesterolemia
Hypertension, Myocardial steatosis, Mitral regurgitation, Heart murmur, Supravalvular aortic sten... ORPHA:391665
Aicardi-Goutieres Syndrome 1
Vasculitis, Cardiomyopathy OMIM:225750
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Abnormal cardiac septum morphology, Cardiomyopathy OMIM:217980
Lipodystrophy, Congenital Generalized, Type 1
Generalized muscular appearance from birth, Cardiomyopathy, Polyphagia OMIM:608594
3-Methylglutaconic Aciduria Type 7
Cardiomyopathy ORPHA:445038
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomegaly, Cardiomyopathy, Heart block, Abnormal myocardium morphology, Arrhythmia ORPHA:228308
Mucopolysaccharidosis Type 2
Hypertension, Abnormal mitral valve morphology, Macroglossia, Abnormal heart morphology, Abnormal... ORPHA:580
Gm1 Gangliosidosis Type 1
Macroglossia, Cardiomyopathy ORPHA:79255
Simpson-Golabi-Behmel Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Prolonged QT int... ORPHA:373
Mucopolysaccharidosis Type 2, Severe Form
Hypertension, Abnormal mitral valve morphology, Macroglossia, Abnormal tricuspid valve morphology... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Hypertension, Abnormal mitral valve morphology, Macroglossia, Abnormal tricuspid valve morphology... ORPHA:217093
Trichothiodystrophy
Multiple joint contractures, Ventricular septal defect, Cardiomyopathy ORPHA:33364
Cartilage-Hair Hypoplasia
Abnormal cardiac septum morphology, Aplasia/Hypoplasia of the abdominal wall musculature, Cardiom... ORPHA:175
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Cardiomyopathy OMIM:616084
Primary Hyperoxaluria
Cardiomyopathy, Arterial occlusion, Heart block, Raynaud phenomenon, Intermittent claudication ORPHA:416
Beckwith-Wiedemann Syndrome
Macroglossia, Diastasis recti, Cardiomegaly, Cardiomyopathy OMIM:130650
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Subdural hemorrhage, Cardiomyopathy, Increased blood pressure, Flexion c... ORPHA:90324
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Epistaxis, Cardiomyopathy ORPHA:79430
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Cardiomyopathy, Pulm... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Cardiomyopathy, Pulm... ORPHA:363958
Postinfectious Vasculitis
Bacterial endocarditis, Hypertension, Vasculitis in the skin, Cardiomyopathy, Raynaud phenomenon,... ORPHA:48435
Pearson Syndrome
Abnormal heart morphology, Dysphagia, Cardiomyopathy, Cardiac conduction abnormality ORPHA:699
Zimmermann-Laband Syndrome 1
Cardiomyopathy OMIM:135500
Simpson-Golabi-Behmel Syndrome, Type 1
Ventricular septal defect, Macroglossia, Congenital diaphragmatic hernia, Right ventricular hyper... OMIM:312870
Yunis-Varon Syndrome
Hypertension, Ventricular septal defect, Renovascular hypertension, Pulmonary arterial hypertensi... ORPHA:3472
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Atrial septal defect, Cardiomyopathy ORPHA:480880
Yunis-Varon Syndrome
Ventricular septal defect, Pulmonary arterial hypertension, Cardiomyopathy, Tetralogy of Fallot, ... OMIM:216340

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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