Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
hexamethylene bis-acetamide inducible 1
Synonyms:
7330426E13Rik,  CLP-1,  HIS1,  Clp1

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.

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 Hexim1 mutations

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

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

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

The table below shows human diseases predicted to be associated to Hexim1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Endocardial fibroelastosis, Impaired myocardial contractility OMIM:607482
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... OMIM:601493
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... OMIM:613424
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
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
His Bundle Tachycardia
Cardiomyopathy, Neoplasm of the heart, Arrhythmia, Junctional ectopic tachycardia ORPHA:3283
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Abnormal left ventricular function, Mitral regurgitation, Congestive hear... OMIM:615373
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Congestive heart failure, Sudden cardiac death OMIM:613172
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy OMIM:607487
Cardiomyopathy, Dilated, 1J
Dilated cardiomyopathy, Abnormal left ventricular function, Congestive heart failure, Sudden card... OMIM:605362
Cardiomyopathy, Dilated, 1X
Dilated cardiomyopathy OMIM:611615
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Atrial fibrillation, Atrioventricular block, Endoca... OMIM:612158
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Dilated cardiomyopathy, Proximal amyotrophy, Shoulder girdle muscle atrophy, Muscular dystrophy, ... OMIM:604286
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function ORPHA:217622
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
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
Cardiomyopathy, familial hypertrophic, 19
Asymmetric septal hypertrophy OMIM:613875
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy OMIM:115195
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy OMIM:115196
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy OMIM:616500
Cardiomyopathy, Familial Hypertrophic, 14
Hypertrophic cardiomyopathy OMIM:613251
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... OMIM:600884
Cardiomyopathy, Dilated, 2C
Dilated cardiomyopathy, Pulmonary arterial hypertension, Reduced ejection fraction OMIM:618189
Cardiomyopathy, Familial Restrictive, 3
Cardiomyopathy OMIM:612422
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... OMIM:601494
Cardiomyopathy, Dilated, 1Kk
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Atrial fibrillation, Mitral regurgitation, V... OMIM:615248
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Arrhythmia OMIM:612098
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Atrial fibrillation, Do... OMIM:617912
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... ORPHA:168796
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Dilated cardiomyopathy, Peroneal muscle atrophy, Peroneal muscle weakness, Limb muscle weakness, ... OMIM:181350
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... OMIM:602087
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... OMIM:602086
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation OMIM:615184
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy OMIM:613752
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Cardiomyopathy, Familial Hypertrophic, 15
Hypertrophic cardiomyopathy, Congestive heart failure, Endocardial fibrosis OMIM:613255
Endocardial Fibroelastosis
Congestive heart failure, Endocardial fibroelastosis, Cardiomyopathy OMIM:226000
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation OMIM:614672
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
EMG: myopathic abnormalities, Cardiomyopathy, Limb-girdle muscle atrophy, Limb-girdle muscular dy... OMIM:608099
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia OMIM:107970
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Reduced muscle fiber merosin, Shoulder gir... ORPHA:34515
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy OMIM:610140
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Coarctation of aorta, Pulm... OMIM:613426
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
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, Distal, 1
Dilated cardiomyopathy, Toe extensor amyotrophy, Ragged-red muscle fibers, Facial palsy, Rimmed v... OMIM:160500
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Reduced ejection fraction, Mitral regurgitation, Pulmonary arterial hyper... OMIM:619371
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hypertrophic cardiomyopathy, Abnormal heart morphology OMIM:618250
Myopathy, Myofibrillar, 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... OMIM:601419
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect OMIM:607941
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Dilated cardiomyopathy, Triangular tongue, Skeletal muscle atrophy, Macroglossia, Muscular dystro... OMIM:616827
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Restrictive cardiomyopathy, Sudden cardiac death, Left ventricular hyper... OMIM:115210
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy ORPHA:154
Myopathy, Myofibrillar, 3
Muscle fiber cytoplasmatic inclusion bodies, Achilles tendon contracture, Cardiomyopathy, Distal ... OMIM:609200
Myopathy, Myosin Storage, Autosomal Recessive
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Scapuloperoneal amyotrophy, EMG: myopathic a... OMIM:255160
Dpm3-Cdg
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Rimmed vacuoles, Muscular dystrophy, Calf ... ORPHA:263494
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy, Myopathy, Rimmed vacuoles, Limb-girdle muscular dystrophy, Increased vari... OMIM:612937
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation OMIM:611878
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy ORPHA:79281
Cardiomyopathy, Familial Hypertrophic, 28
Concentric hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Left atrial... OMIM:619402
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy OMIM:618097
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... OMIM:604145
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy, Asymmetric septal hypertrophy OMIM:212130
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Myopathy, Facial palsy, Type 1 fibers relatively smaller than type 2 fibe... OMIM:300580
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613690
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Dilated cardiomyopathy, Proximal amyotrophy, Scapuloperoneal amyotrophy, Left ventricular systoli... ORPHA:206559
Muscular Dystrophy, Congenital, Megaconial Type
Dilated cardiomyopathy, Myopathy, Facial palsy, Congenital muscular dystrophy, Muscular dystrophy OMIM:602541
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Increased variability in muscle fiber diameter, Flexion contracture OMIM:300718
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Decreased muscle glycogen content, Cardiomyopathy, Left ventricular hype... OMIM:611556
Salih Myopathy
Dilated cardiomyopathy, Myopathy, Facial palsy, Flexion contracture, Calf muscle hypertrophy, Cen... OMIM:611705
Myopathy, Distal, 4
Myopathy, Skeletal muscle atrophy, Distal upper limb amyotrophy, Cardiomyopathy, Distal lower lim... OMIM:614065
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
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Arrhythmia, Mitral valve prolapse, Cardiomyopathy OMIM:614676
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... OMIM:610476
Myopathy, Autophagic Vacuolar, Infantile-Onset
Hypertrophic cardiomyopathy, Myopathy, Autophagic vacuoles OMIM:609500
Danon Disease
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Myocardial fibrosis, Cardiomegaly, EMG: myop... OMIM:300257
Lethal Congenital Contracture Syndrome 3
Multiple joint contractures, Neonatal death, Skeletal muscle atrophy, Arthrogryposis multiplex co... OMIM:611369
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Bicuspid aortic valve, Atrial septal defect OMIM:615981
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy OMIM:610768
Myopathy, Centronuclear, 5
Dilated cardiomyopathy, Facial palsy, Hip contracture OMIM:615959
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy, Cardiomyopathy OMIM:225740
Adult-Onset Nemaline Myopathy
Dilated cardiomyopathy, Myopathy, Increased muscle lipid content, EMG: myopathic abnormalities, F... ORPHA:171442
Gne Myopathy
Abnormal right hemidiaphragm morphology, Lower limb amyotrophy, Hip flexor weakness, Shoulder gir... ORPHA:602
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Cardiomyocyte hypertrophy OMIM:605676
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Cardiomyopathy, Atrial fibrillation OMIM:613874
Cardiomyopathy, Dilated, 1E
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... OMIM:601154
Laing Early-Onset Distal Myopathy
Dilated cardiomyopathy, Proximal muscle weakness in lower limbs, Abnormal mitochondria in muscle ... ORPHA:59135
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Left atrial enlargement, Left ventricular no... OMIM:619424
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dilated cardiomyopathy, Limb hypertonia, Congestive heart failure, Facial myokymia OMIM:606703
Cardiomyopathy, Familial Hypertrophic, 1
Arrhythmia, Congestive heart failure, Asymmetric septal hypertrophy, Subvalvular aortic stenosis OMIM:192600
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy OMIM:615395
Atrial Standstill 1
Atrial standstill, Ventricular escape rhythm, Endocardial fibroelastosis, Atrial cardiomyopathy, ... OMIM:108770
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Dilated cardiomyopathy OMIM:615895
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Pericardial effusion, Ventricular arrhythmia, Atrial fibrillatio... ORPHA:300751
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function OMIM:619492
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Limb hypertonia, Congestive heart failure, Facial myokymia ORPHA:324588
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613876
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Pericardial effus... OMIM:115200
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Ventricular tachycardia, Cardiomyopathy, Left ventricular hypertrophy, Myocardial f... OMIM:613873
Muscular Dystrophy, Becker Type
Cardiomyopathy, Muscular dystrophy, Calf muscle pseudohypertrophy, Abnormal EKG, Arrhythmia OMIM:300376
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy ORPHA:2229
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal mitochondria in muscle tissue, Ragg... OMIM:252011
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Weakness of the intrinsic hand muscles, Wrist drop, Cardiomyopathy, Heart block, Leg muscle stiff... ORPHA:98912
Barth Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Skeletal myopathy, Endocardial fibroelastosi... OMIM:302060
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomyopathy OMIM:602390
Distal Nebulin Myopathy
Ankle flexion contracture, Weakness of the intrinsic hand muscles, Weakness of facial musculature... ORPHA:399103
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia, Flexion contracture OMIM:618815
Nemaline Myopathy 11, Autosomal Recessive
Scapular winging, Nemaline bodies, Facial palsy, Cardiomyopathy OMIM:617336
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Palpitations, Restric... OMIM:608751
Ventricular Septal Defect 1
Ventricular septal defect, Atrial septal defect, Pulmonic stenosis OMIM:614429
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Cardiomyopathy, Distal lower limb muscle weakness, Supraventricular arrhythmia, Leg muscle stiffness ORPHA:320360
Nemaline Myopathy 3
Dilated cardiomyopathy, Limb muscle weakness, Facial palsy, Arthrogryposis multiplex congenita, E... OMIM:161800
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Proximal amyotrophy, Muscular dystrophy, Arrhythmia, Cardiomyopathy OMIM:612999
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect, Skeletal muscle atrophy, Arthrogryposis multip... OMIM:607598
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy OMIM:609016
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Muscular dystrophy, Cardiomyopathy OMIM:309930
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Abnormal cardiac septum morphology, Patent ductus arteriosus OMIM:601612
Distal Myotilinopathy
Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Cardiomyopathy, Distal amyotrophy, ... ORPHA:98911
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Muscular dystrophy, Congestive heart failure, Calf muscle... OMIM:310200
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Limb-girdle muscle weakness, Cardiomyopathy, Flexion contracture OMIM:609308
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Prolonged QT interval, Noncompaction cardiomyopathy, Congestive heart fai... OMIM:610198
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Myocarditis, Left atrial enlargement, Abnormal... ORPHA:563
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Myopathy, Cardiomyopathy, Fatty replacement of skeletal muscle OMIM:255100
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Proximal amyotrophy, Generalized amyotrophy, Facial palsy, Arrhythmia OMIM:615084
Cardiomyopathy, Familial Hypertrophic, 12
Ventricular tachycardia, Paroxysmal atrial fibrillation, Cardiomyopathy, Sudden cardiac death OMIM:612124
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:614299
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... OMIM:611528
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... OMIM:619566
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:618719
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Mitral regurgitation, Neonatal death, Left ventricular systolic dysfuncti... OMIM:619167
Heterotaxy, Visceral, 4, Autosomal
Dextrocardia, Ventricular septal defect, Atrioventricular canal defect, Right aortic arch OMIM:613751
Congenital Muscular Dystrophy, Fukuyama Type
Dilated cardiomyopathy, Myopathy, Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Fl... ORPHA:272
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy, Rhabdomyolysis OMIM:618120
Naxos Disease
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... OMIM:601214
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Proximal upper limb amyotrophy, Proximal muscle weakness in lower limbs, ... ORPHA:98855
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Proximal upper limb amyotrophy, Proximal mus... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Proximal upper limb amyotrophy, Proximal mus... ORPHA:261
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
Triose Phosphate-Isomerase Deficiency
Hypertrophic cardiomyopathy, Skeletal muscle atrophy ORPHA:868
Giant Axonal Neuropathy 2, Autosomal Dominant
Cardiomyopathy, Distal amyotrophy OMIM:610100
Myopathy, Congenital, With Fiber-Type Disproportion
Dilated cardiomyopathy, Limb joint contracture, Facial palsy, Type 1 fibers relatively smaller th... OMIM:255310
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Dilated cardiomyopathy, Mitral regurgitation OMIM:212112
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Myopathy, Ragged-red muscle fibers, Weakness of facial musculature, Gener... ORPHA:352447
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Ventricular tachycardia, Cardiomegaly OMIM:600649
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Right ventricular cardiomyopathy, Premature ventricular contraction OMIM:604401
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy OMIM:614053
Loeffler Endocarditis
Left atrial enlargement, Pericarditis, Endocardial fibrosis, Mitral regurgitation, Palpitations, ... ORPHA:75566
Dk1-Cdg
Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac fibrosis, Congestive hear... ORPHA:91131
Alpha-B Crystallin-Related Late-Onset Myopathy
Autophagic vacuoles, Facial diplegia, Cardiomyopathy, EMG: myopathic abnormalities, Increased var... ORPHA:399058
Myopathy, Myofibrillar, 2
Hypertrophic cardiomyopathy, Autophagic vacuoles, EMG: myopathic abnormalities, Muscular dystroph... OMIM:608810
Tricuspid Atresia
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Coarctation of aorta... ORPHA:1209
Hemochromatosis Type 2
Dilated cardiomyopathy ORPHA:79230
Sudden Cardiac Failure, Infantile
Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Congestive heart failure, Myocardial fibrosis OMIM:617222
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Macroglossia, Achilles tendon contracture,... OMIM:607155
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy OMIM:615119
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Ventricular septal defect, Atrial fi... OMIM:614980
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Hypertension, Cerebral hemorrhage, Ischemic stroke, Coronary artery ather... ORPHA:280679
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supra... ORPHA:45453
Indomethacin Embryofetopathy
Ventricular septal defect, Atrial septal defect, Cardiomyopathy ORPHA:1909
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Hypertrophic cardiomyopathy OMIM:617184
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... OMIM:608758
Cardiomyopathy, Familial Hypertrophic, 6
Hypertrophic cardiomyopathy, Sinus bradycardia, Atrial fibrillation, Ventricular preexcitation, A... OMIM:600858
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Hypertrophic cardiomyopathy, Hypertension, Abnormal heart valve morphology, Congestive heart fail... ORPHA:1345
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... OMIM:604400
Mitochondrial Complex I Deficiency, Nuclear Type 22
Hypertrophic cardiomyopathy OMIM:618243
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Reduced systolic function OMIM:618805
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Ventricular tachycardia, Left bundle branch block, Left ventricular hypertro... OMIM:613838
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... ORPHA:206549
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Global systolic dysfunction, Cardiomyopathy, Limb muscle weakness OMIM:606842
Atrial Standstill
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... ORPHA:1344
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Palpitations, Ventricular hypertrophy, Ventricular tachycardia, Ventricula... ORPHA:263297
Myopathy, Myofibrillar, 4
Autophagic vacuoles, EMG: myopathic abnormalities, Cardiomyopathy, Muscle fiber splitting, Myofib... OMIM:609452
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Arrhythmia, Cardiomyopathy OMIM:616198
Ulnar Agenesis And Endocardial Fibroelastosis
Endocardial fibroelastosis, Neonatal death OMIM:276822
Malonyl-Coa Decarboxylase Deficiency
Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy OMIM:248360
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... OMIM:610193
Cardiomyopathy, Familial Hypertrophic, 13
Hypertrophic cardiomyopathy, Syncope, Biventricular hypertrophy, Atrial fibrillation, ST segment ... OMIM:613243
Polymyositis
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal muscle fiber morphology, Pericardit... ORPHA:732
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Dilated cardiomyopathy, Mitral valve prolapse, Left ventricular systolic dysfunction OMIM:145350
Familial Cutaneous Collagenoma
Congestive heart failure, Atrial septal defect, Cardiomyopathy, Angina pectoris ORPHA:53296
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Macroglossia, Facial palsy, Cardiomyopathy, Congenital muscular dystrophy, Muscular dystrophy, Fl... OMIM:613155
Amyloidosis, Finnish Type
Cardiac amyloidosis, Cardiomyopathy OMIM:105120
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Cardiac arrest, Ventricular tachycardia, Ventricular fibrillation OMIM:300952
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Syncope, Ventricular arrhythmia, Palpitations, Dilatation of the ventricular cavity, Sudden cardi... OMIM:609040
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Syncope, Tachycardia OMIM:615821
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Dilatation of the ventricular cavity, Effort-induced polymorphic ventricular tachycardia, Right v... OMIM:600996
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy OMIM:231530
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis OMIM:607685
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Abnormal left ventricle morphology, Cerebral hemorrhage OMIM:300845
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure OMIM:611126
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... OMIM:613854
Ventricular Septal Defect 3
Pulmonary artery stenosis, Ventricular septal defect, Atrial septal defect OMIM:614432
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Torsade de pointes, Aborted sudden cardiac death, ... OMIM:115000
9Q31.1Q31.3 Microdeletion Syndrome
Dilated cardiomyopathy, Bicuspid aortic valve, Aortic regurgitation, Renovascular hypertension ORPHA:401923
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... OMIM:607450
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Ventricular septal defect, Truncus arteriosus, Neonatal death OMIM:228940
Neonatal Lupus Erythematosus
Dilated cardiomyopathy, Prolonged QT interval, Abnormal heart morphology, Atrioventricular block,... ORPHA:398124
Cardiomyopathy, Familial Restrictive, 6
Pulmonary insufficiency, Restrictive cardiomyopathy, Tricuspid regurgitation, Pulmonic stenosis OMIM:619433
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Myopathy, Facial palsy, Cardiomyopathy, Flexion contracture OMIM:201470
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Myopathy, Skeletal muscle atrophy, Abnormal cardiomyocyte morphology, Abn... ORPHA:367
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Hypoglycosylation of alpha-dystroglycan, Muscular dystrophy, Cardiomyopathy OMIM:615352
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy ORPHA:254857
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Abnormal aortic morphology, Arrhythmia, Cardiomyopathy ORPHA:3222
Autosomal Dominant Coarctation Of Aorta
Abnormal aortic arch morphology, Ventricular septal defect, Hypoplastic left heart, Aortic arch a... ORPHA:1455
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Pulmonary insufficiency, Mitral regurgitation, Double outlet right ventri... ORPHA:2326
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ventricular septal defect, Prolonged QT interval, Pericardial effusion, V... ORPHA:26793
Heterotaxy, Visceral, 8, Autosomal
Ventricular septal defect, Double outlet right ventricle, Atrial situs ambiguous, Hypoplastic lef... OMIM:617205
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Endocardial fibroelastosis, Cardiomyopathy, Mitral regurgitation OMIM:226100
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Atrial fibrillation, Subvalvular aortic stenosis, Left ventricular hyp... OMIM:108900
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Type 1 muscle fiber predominance, Triceps weakness, Generalized amyotrophy, Cardiomyopa... ORPHA:86812
Duchenne Muscular Dystrophy
Calf muscle hypertrophy, Skeletal muscle atrophy, Cardiomyopathy, Flexion contracture ORPHA:98896
Neutrophilic Dermatosis, Acute Febrile
Dilated cardiomyopathy, Small vessel vasculitis OMIM:608068
Cardiomyopathy, Familial Hypertrophic, 4
Hypertrophic cardiomyopathy, Syncope, Myopathy, Pericardial effusion, Ventricular hypertrophy, At... OMIM:115197
Sick Sinus Syndrome 2
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... OMIM:163800
Propionic Acidemia
Arrhythmia, Cardiomyopathy ORPHA:35
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Myopathy, EMG: myopathic abnormalities, Cong... ORPHA:99901
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Tendon rupture, Reduced ejection fraction, Angi... ORPHA:85451
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiomyopathy ORPHA:85447
Abdominal Obesity-Metabolic Syndrome 3
Myocardial infarction, Hypertension, Coronary artery stenosis OMIM:615812
Triglyceride Deposit Cardiomyovasculopathy
Increased muscle lipid content, Coronary artery stenosis, Skeletal myopathy, Palpitations, Low-ou... ORPHA:565612
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Abnormal heart valve morphology, Congestive heart failure, Hypertrophic c... OMIM:230500
Mitochondrial Trifunctional Protein Deficiency
Dilated cardiomyopathy, Myopathy, Congestive heart failure, Rhabdomyolysis, Arrhythmia OMIM:609015
Atrial Standstill 2
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... OMIM:615745
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myopathy, Pelvic girdle muscle weakness, Cardiomyopathy, Calf muscle hypertrophy, Increased varia... ORPHA:119
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Ventricular septal defect, Aborted sudden cardiac death, Pulmonary arteri... OMIM:614921
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal death, Pulmonary arterial hypertension, Cardiomyopathy OMIM:619003
Grange Syndrome
Bicuspid aortic valve, Carotid artery stenosis, Coronary artery stenosis, Renovascular hypertensi... OMIM:602531
Ohdo Syndrome, Sbbys Variant
Dilated cardiomyopathy OMIM:603736
Dilated Cardiomyopathy With Ataxia
Dilated cardiomyopathy, Prolonged QT interval, Generalized amyotrophy, Diaphragmatic eventration,... ORPHA:66634
Glycogen Storage Disease Iii
Ventricular hypertrophy, Myopathy, Cardiomyopathy, Distal amyotrophy OMIM:232400
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Hypertension, Myocarditis, Hypertrophic cardiomyopathy, Aortic dissection... ORPHA:3342
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Myopathy, Cardiomegaly, Cardiomyopathy OMIM:617713
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Skeletal muscle atrophy, Pulmonic stenosis, Congenital muscular dystrophy... OMIM:253800
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Dilated cardiomyopathy, Ragged-red muscle fibers, Muscle fiber necrosis, Increased variability in... OMIM:607459
Heart Block, Congenital
Myocardial calcification, Mitral regurgitation, Atrioventricular block, Cardiomyopathy, Absent at... OMIM:234700
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Abnormal EKG, Abnormal P wave, Reduced ejection fraction, Mitral regurgi... ORPHA:75565
Naxos Disease
Paroxysmal ventricular tachycardia, Cardiomyopathy, Congestive heart failure, Sudden cardiac deat... ORPHA:34217
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Syncope, Prominent U wave, Bidirectional ventricular ectopy, Premature ve... ORPHA:37553
Hypoplastic Left Heart Syndrome 2
Mitral atresia, Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia OMIM:614435
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Reduced ejection fraction, Aortic regurgitation, Tricuspid regurgita... OMIM:616501
Peroxisome Biogenesis Disorder 9B
Cardiomyopathy OMIM:614879
Collagenoma, Familial Cutaneous
Atrial fibrillation, Cardiomyopathy, Tricuspid regurgitation, Vasculitis, Congestive heart failur... OMIM:115250
Nephronophthisis 16
Hypertrophic cardiomyopathy, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis OMIM:615382
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Dilated cardiomyopathy, Ragged-red muscle fibers, Increased variability in muscle fiber diameter ORPHA:70595
Right Atrial Isomerism
Dextrocardia, Complete atrioventricular canal defect, Ventricular septal defect, Right atrial iso... OMIM:208530
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Arrhythmia OMIM:249270
Leigh Syndrome With Cardiomyopathy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mitral regurgitation, Cardiac conduction abn... ORPHA:70474
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... ORPHA:216694
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Syncope, Left atrial enlargement, Atrial fibrillation, Mitral regurg... ORPHA:75249
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Increased muscle lipid content, Antenatal intracerebral hemorrhage, Cardi... OMIM:608836
Hemochromatosis, Type 2B
Congestive heart failure, Cardiomyopathy OMIM:613313
Dyskeratosis Congenita, Autosomal Dominant 2
Dilated cardiomyopathy OMIM:613989
Arthrogryposis Multiplex Congenita 6
Death in infancy, Neonatal death, Arthrogryposis multiplex congenita, Increased variability in mu... OMIM:619334
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Rhabdomyolysis, Patent foramen ovale OMIM:610505
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Ventricular septal defect, Mitral regurgitation ORPHA:261250
Oculopharyngodistal Myopathy 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles, Facial palsy, EMG: myop... OMIM:164310
Vici Syndrome
Dilated cardiomyopathy, Myopathy, Cardiomyopathy, Left ventricular hypertrophy, Congestive heart ... OMIM:242840
Glycogen Storage Disease Of Heart, Lethal Congenital
Myopathy, Biventricular hypertrophy, Macroglossia, Cardiomegaly, Cardiomyopathy, Bradycardia, Con... OMIM:261740
Renal-Hepatic-Pancreatic Dysplasia 2
Hypertrophic cardiomyopathy, Truncus arteriosus, Situs inversus totalis, Stillbirth, Pulmonic ste... OMIM:615415
Meacham Syndrome
Dextrocardia, Bicuspid aortic valve, Ventricular septal defect, Death in infancy, Neonatal death,... OMIM:608978
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Myopathy, Ragged-red muscle fibers, Reduced ejection fraction, Ventricula... ORPHA:254892
Hurler-Scheie Syndrome
Abnormal heart valve morphology, Cardiomyopathy ORPHA:93476
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Prolonged QT interval, Hypertrophic cardiomyopathy ORPHA:71212
Alstrom Syndrome
Dilated cardiomyopathy, Hypertension, Atherosclerosis, Congestive heart failure OMIM:203800
Melas
Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Abno... ORPHA:550
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Hypertension, Cardiomyopathy OMIM:102200
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Coarctation of aorta, Patent foramen ovale, Anomalous origin of right ... OMIM:610338
Atrial Septal Defect 1
Bicuspid aortic valve, Ventricular septal defect, Atrial septal dilatation, Tetralogy of Fallot w... OMIM:108800
Hec Syndrome
Endocardial fibroelastosis, Arrhythmia, Cardiomyopathy ORPHA:2119
Aortic Valve Disease 1
Bicuspid aortic valve, Ventricular septal defect, Double outlet right ventricle, Mitral atresia, ... OMIM:109730
Aortic Arch Interruption
Bicuspid aortic valve, Truncus arteriosus, Single ventricle, Intermittent claudication, Abnormal ... ORPHA:2299
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Death in infancy, Cardiomyopathy OMIM:618839
Dominant Beta-Thalassemia
Dilated cardiomyopathy, High-output congestive heart failure, Hypoplasia of the musculature, Arrh... ORPHA:231226
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Ventricular tachycardia, Atrioventricular block, Ventricular h... OMIM:212138
Tubular Renal Disease-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Congestive heart failure, Pericardial effusion, Sudden cardiac death ORPHA:73224
Short Stature, Microcephaly, And Endocrine Dysfunction
Dilated cardiomyopathy OMIM:616541
Tangier Disease
Carotid artery stenosis, Accelerated atherosclerosis, Coronary artery stenosis, Facial diplegia, ... ORPHA:31150
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Generalized amyotrophy, Cardiomyopathy, Arthrogryposis multiplex congenita, Muscle fiber atrophy,... OMIM:616866
Sweet Syndrome
Dilated cardiomyopathy, Small vessel vasculitis, Myositis ORPHA:3243
Beta-Thalassemia Major
Dilated cardiomyopathy, High-output congestive heart failure, Hypoplasia of the musculature, Arrh... ORPHA:231214
3-Hydroxy-3-Methylglutaric Aciduria
Dilated cardiomyopathy, Cardiac arrest, Hypotension ORPHA:20
Mitochondrial Dna-Associated Leigh Syndrome
Dilated cardiomyopathy, Ragged-red muscle fibers, Hypertrophic cardiomyopathy, Cardiac conduction... ORPHA:255210
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Cardiomyopathy, Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavity, Di... ORPHA:363623
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Subdural hemorrhage, Abnormal heart morphology, Pulmonary arterial hypert... ORPHA:79282
Primary Lipodystrophy
Hypertension, Myopathy, Skeletal muscle hypertrophy, Type IV atherosclerotic lesion, Cardiomyopat... ORPHA:90970
Homozygous Familial Hypercholesterolemia
Cerebral artery atherosclerosis, Hypertension, Myocardial steatosis, Mitral regurgitation, Heart ... ORPHA:391665
Infantile Liver Failure Syndrome 2
Cardiomyopathy OMIM:616483
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Intracranial hemorrhage, Skeletal muscle atrophy, Myocardial eosinophilic... ORPHA:3260
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Dilated cardiomyopathy, Skeletal muscle atrophy, Flexion contracture ORPHA:89842
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Hypertension, Third degree atrioventricular block, Biventricular hypertro... OMIM:619573
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Dilated cardiomyopathy, Hypertension, Raynaud phenomenon, Vasculitis, Portal hypertension OMIM:615688
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Mitral valve prolapse, Mitral regurgitation,... ORPHA:2556
Steinert Myotonic Dystrophy
Dilated cardiomyopathy, Pelvic girdle muscle weakness, Skeletal muscle atrophy, Atrial fibrillati... ORPHA:273
Visceral Steatosis, Congenital
Myocardial steatosis, Neonatal death OMIM:228100
1P36 Deletion Syndrome
Dilated cardiomyopathy, Telangiectasia, Myopathy, Aortic arch aneurysm, Abnormal heart valve morp... ORPHA:1606
Chromosome 1P36 Deletion Syndrome, Distal
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Noncompaction cardiomyo... OMIM:607872
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Bradycardia ORPHA:79404
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Dilated cardiomyopathy, Joint contractures involving the joints of the feet, Flexion contracture ORPHA:79408
Johanson-Blizzard Syndrome
Dilated cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Atrial septal defect OMIM:243800
Choreoacanthocytosis
Dilated cardiomyopathy, Peroneal muscle atrophy, Myopathy, Muscle fiber atrophy, Distal amyotrophy ORPHA:2388
Williams-Beuren Syndrome
Myxomatous mitral valve degeneration, Bicuspid aortic valve, Hypertension, Ventricular septal def... OMIM:194050
Alström Syndrome
Dilated cardiomyopathy, Hypertension, Pulmonary arterial hypertension, Abnormal coronary artery p... ORPHA:64

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 Hexim1

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 Hexim1.

No publications found that use IMPC mice or data for Hexim1.

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MGI Allele Allele Type Produced
Hexim1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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