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, 2A
Dilated cardiomyopathy, Congestive heart failure, Cardiomyocyte hypertrophy, Myofiber disarray, I... OMIM:611880
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, End... OMIM:607482
Cardiomyopathy, Dilated, 1Cc
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... OMIM:613122
Cardiomyopathy, Dilated, 1W
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... OMIM:611407
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Cardiomyopathy, Dilated, 1Jj
Reduced left ventricular ejection fraction, Dilated cardiomyopathy OMIM:615235
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... OMIM:613252
Cardiomyopathy, Dilated, 2I
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... OMIM:620462
Cardiomyopathy, Dilated, 1Ff
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventr... OMIM:613286
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h... OMIM:613172
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Cardiomyocyte mitochondrial proliferation, Hypertrophic cardiomyopathy OMIM:616500
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... OMIM:604765
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Inc... OMIM:606685
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:609909
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... OMIM:613642
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy ORPHA:3283
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula... OMIM:302045
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:611879
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Dilated cardiomyopathy, Sudden cardiac death, Congestive hear... OMIM:605362
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy, Sudden cardiac death OMIM:115196
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... OMIM:615248
Barth Syndrome
Endocardial fibroelastosis, Dilated cardiomyopathy ORPHA:111
Cardiomyopathy, Dilated, 1K
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure OMIM:605582
Left Ventricular Noncompaction 2
Left ventricular noncompaction cardiomyopathy OMIM:609470
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea... OMIM:600884
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Shoulder girdle muscle atrophy, Muscular dystrophy, Dilated cardiomyopathy, Pelvic girdle muscle ... OMIM:604286
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Reduced left ventricular ... OMIM:611615
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:612877
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... ORPHA:168796
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti... OMIM:614672
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Dilated cardiomyo... OMIM:608099
Cardiomyopathy, Dilated, 2J
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Secundum atrial sept... OMIM:620635
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Left anterior fascicular block,... OMIM:181350
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef... OMIM:613697
Cardiomyopathy, Dilated, 2C
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy OMIM:618189
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Dilated cardiomyopathy, Interosseus muscle atrophy, Distal lower limb muscle weakness, Fiber type... OMIM:619903
Cardiomyopathy, Familial Hypertrophic, 15
Apical hypertrophic cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic... OMIM:613255
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... OMIM:620247
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Cardiogenic shock, Muscular ventricular septal defect, Tricuspid regurgit... OMIM:619371
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Quadriceps muscle weakness, Congestive heart failure, Elbow flexion contr... ORPHA:206546
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy OMIM:610140
Myopathy, Distal, 1
Rimmed vacuoles, Toe extensor amyotrophy, Dilated cardiomyopathy, Tibialis anterior muscle atroph... OMIM:160500
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Reduced muscle fiber... ORPHA:34515
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Proximal muscle weakness in lower limbs, Finger flexor weakness, Hip flexor weakness, Cardiomyopa... ORPHA:63273
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Sudden cardiac... OMIM:115210
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom... OMIM:611556
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular... OMIM:615184
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Triangular tongue, Calf musc... OMIM:616827
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Atrio... OMIM:611705
Cardiomyopathy, Familial Hypertrophic, 28
Apical hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Systolic anterior mot... OMIM:619402
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... OMIM:612937
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy... ORPHA:154
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Limb-girdle muscular dystrophy, Dilated cardiomyopathy, Reduced muscle fiber alpha dystroglycan, ... ORPHA:206559
Cardiomyopathy, Dilated, 2F
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:619747
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Muscle f... OMIM:300718
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy ORPHA:79281
Dpm3-Cdg
Rimmed vacuoles, Muscular dystrophy, Dilated cardiomyopathy, Calf muscle hypertrophy, Pelvic gird... ORPHA:263494
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial pal... OMIM:300580
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Combined Oxidative Phosphorylation Deficiency 23
Hypertrophic cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure OMIM:616198
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Wolff-P... OMIM:613690
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Myopathy, Distal, 4
Skeletal muscle atrophy, Cardiomyopathy, Thenar muscle weakness, Distal lower limb amyotrophy, Di... OMIM:614065
Cardiomyopathy Associated With Myopathy And Sudden Death
Asymmetric septal hypertrophy, Myopathy OMIM:212130
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Sinus tachycardia, Congestive... OMIM:255160
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Left ventricular hypertr... OMIM:613876
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect OMIM:615981
Adult-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Dilated cardiomyopathy, Upper li... ORPHA:171442
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Biventricular hypertrophy,... OMIM:619424
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Myopathy, Autophagic Vacuolar, Infantile-Onset
Hypertrophic cardiomyopathy, Autophagic vacuoles, Myopathy OMIM:609500
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failure, Left ventricular n... OMIM:613426
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, Cardiomyopathy, Tibialis anterior muscle atrophy, Tibialis m... OMIM:600334
Cardiomyopathy, Familial Hypertrophic, 21
Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop... OMIM:614676
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Hypertrophic cardiomyopathy, Decreased activity of mitochondrial complex IV, Death in infancy, Ne... OMIM:617184
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Limb hypertonia, Facial myokymia, Congestive heart failure ORPHA:324588
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Systolic anterior motion of the mitral valve, Asymmetric septal hypertrophy, Cardiomyocyte hypert... OMIM:620236
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy OMIM:618097
Laing Early-Onset Distal Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Dilated card... ORPHA:59135
Cardiomyopathy, Dilated, 2E
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function OMIM:619492
Atrial Standstill 1
Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, Premature atrial contra... OMIM:108770
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure OMIM:192600
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Myopathy, Distal, 7, Adult-Onset, X-Linked
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:301075
Cardiomyopathy, Familial Hypertrophic, 12
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Vent... OMIM:612124
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... OMIM:615779
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... OMIM:611878
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter... ORPHA:300751
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Leg muscle stiffness, Cardiomyopathy, Foot dorsiflexor w... ORPHA:98912
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy ORPHA:2229
Cardiomyopathy, Familial Hypertrophic, 18
Hypertrophic cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Paroxysmal atrial... OMIM:613874
Danon Disease
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... OMIM:300257
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... OMIM:608751
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Dilated cardiomyopathy OMIM:619688
Muscular Dystrophy, Becker Type
Muscular dystrophy, Cardiomyopathy, Abnormal EKG, Arrhythmia, Calf muscle pseudohypertrophy OMIM:300376
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction... OMIM:614096
Ventricular Septal Defect 1
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:614429
Cardiomyopathy, Dilated, 2H
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Secundum atrial s... OMIM:620203
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy OMIM:192605
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Flexion contracture, Dilated cardiomyopathy, Bradycardia OMIM:618815
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardiomyopathy, Ragged-red m... OMIM:252011
Distal Nebulin Myopathy
Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Cardiomyopathy, Foot ... ORPHA:399103
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Hemochromatosis, Type 2A
Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure OMIM:602390
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Distal lower limb muscle weakness, Leg muscle stiffness, Cardiomyopathy, Supraventricular arrhythmia ORPHA:320360
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy OMIM:609016
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Card... OMIM:608807
Congenital Myopathy 2A, Typical, Autosomal Dominant
Nemaline bodies, Dilated cardiomyopathy, Type 1 muscle fiber predominance, Limb muscle weakness, ... OMIM:161800
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, Cardiomyopathy, EMG: myopathic abnormalities, Weakness o... ORPHA:171445
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Neonatal death OMIM:601612
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Congestive heart failure, Arterial stenosis, Carotid artery calcification... OMIM:208000
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Skeletal muscle atrophy, Ventricular ... OMIM:607598
Distal Myotilinopathy
Distal amyotrophy, Cardiomyopathy, Multiple joint contractures, Abnormal muscle fiber myotilin, E... ORPHA:98911
Myopathy, Centronuclear, 5
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regurgitation, Hip con... OMIM:615959
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Cardiomyopathy, Abnormal EKG OMIM:309930
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dilated cardiomyopathy, Limb hypertonia, Facial myokymia, Congestive heart failure OMIM:606703
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... OMIM:613838
Myopathy, Myofibrillar, 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... OMIM:609200
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Congestive heart failure, Noncompaction cardiomyopathy, Atrial septal def... OMIM:610198
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Left ventricular noncompaction, Tricuspid regurgitation, Left ventricular... OMIM:619167
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:612999
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Cardiomyopathy OMIM:619647
Megabladder, Congenital
Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventr... OMIM:618719
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Muscular Dystrophy, Duchenne Type
Muscular dystrophy, Dilated cardiomyopathy, Cardiomyopathy, Abnormal EKG, Congestive heart failur... OMIM:310200
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Ragged-red muscle ... ORPHA:1349
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Dilated cardiomyopathy, Increased endomysial connective tissue, Myopathy, Fac... OMIM:602541
Congenital Myopathy 4A, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Type 1 fibers relatively smal... OMIM:255310
Congenital Muscular Dystrophy, Fukuyama Type
Muscular dystrophy, Dilated cardiomyopathy, Camptodactyly of finger, Myopathy, Hypoglycosylation ... ORPHA:272
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal muscle weakness in l... OMIM:619566
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Cardiomyopathy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystr... OMIM:609308
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Cardiomegaly, Dilated cardiomyopathy, Ventricular tachycardia OMIM:600649
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... OMIM:618052
Giant Axonal Neuropathy 2, Autosomal Dominant
Distal amyotrophy, Cardiomyopathy OMIM:610100
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Mitochondrial Dna Depletion Syndrome 11
Dilated cardiomyopathy, Ragged-red muscle fibers, Arrhythmia, Proximal amyotrophy, Facial palsy, ... OMIM:615084
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Atrioventricular block, Dilated cardiom... ORPHA:98855
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Atrioventricular block, Dilated cardiom... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Atrioventricular block, Dilated cardiom... ORPHA:261
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy OMIM:614053
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Triose Phosphate-Isomerase Deficiency
Hypertrophic cardiomyopathy, Skeletal muscle atrophy ORPHA:868
Dk1-Cdg
Dilated cardiomyopathy, Congestive heart failure, Cardiomyocyte hypertrophy, Interstitial cardiac... ORPHA:91131
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Calf muscle hypertro... OMIM:607155
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ankle flexion contracture, Dilated cardiomyopathy, Rhabdomyolysis OMIM:618120
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Cardiac rhabdomyoma, Prolonged QRS complex, Suprav... ORPHA:45453
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... ORPHA:75566
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... ORPHA:399058
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Hjv Or Hamp-Related Hemochromatosis
Dilated cardiomyopathy ORPHA:79230
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Dilated cardiomyopathy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature, Arrhy... ORPHA:352447
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric... OMIM:613873
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Cardiomyocyte hypertr... ORPHA:263297
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Telangiectasia of the skin, Finger ... OMIM:212112
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Ventricular sept... OMIM:620609
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Ischemic stroke, Coronary artery atherosclerosis, Cerebral hemorrhage, Hy... ORPHA:280679
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Ventricular septal hyper... OMIM:115195
Malonyl-Coa Decarboxylase Deficiency
Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy OMIM:248360
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end... OMIM:620152
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... OMIM:620519
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Dilated cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Neonatal deat... OMIM:620300
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff... ORPHA:3282
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Global systolic dysfunction, Limb muscle weakness, Cardiomyopathy OMIM:606842
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Reduced systolic function OMIM:618805
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m... ORPHA:1345
Myopathy, Myofibrillar, 4
Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle fiber splitting, Auto... OMIM:609452
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ... OMIM:612098
Congenital Myopathy 24
Nemaline bodies, Cardiomyopathy, Type 1 muscle fiber predominance, First degree atrioventricular ... OMIM:617336
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral valve prolapse OMIM:145350
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Dilated cardiomyopathy, Abnormal atrioventricular conduc... ORPHA:732
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Cardiom... OMIM:615352
Familial Cutaneous Collagenoma
Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure ORPHA:53296
Chromosome 1P36 Deletion Syndrome, Proximal
Dilated cardiomyopathy, Biventricular hypertrophy, Coronary artery fistula, Complete atrioventric... OMIM:619343
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy OMIM:231530
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Syncope, Dilated cardiomyopathy, Ventricular tachycardia OMIM:615821
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi... OMIM:115000
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Neonatal death, Ventricular septal defect OMIM:615524
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Bicuspid aortic valve, Dilated cardiomyopathy, Renovascular hypertension ORPHA:401923
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ... OMIM:613854
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Skeletal muscle atrophy, Congestive heart failure, Abnormal cardiomyocyte... ORPHA:367
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Decreased activity of mitochondrial complex I, Cardiomyopathy, N... OMIM:619003
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Premature coronary artery atherosclerosis, Abnormal left ventricle morpho... OMIM:300845
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Sick Sinus Syndrome 2
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... OMIM:163800
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Abnormal heart morphology, Abnormal electrophysio... ORPHA:398124
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure OMIM:611126
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Exercise-induced rhabdomyolysis, Patent foramen o... ORPHA:26793
Barth Syndrome
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgit... OMIM:302060
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Hypertension, Abnormal aortic morphology, Cardiomyopathy ORPHA:3222
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy ORPHA:254857
Ulnar Agenesis And Endocardial Fibroelastosis
Endocardial fibroelastosis, Neonatal death OMIM:276822
Mcleod Syndrome
Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Rhabdomyolysis, Atrial fibrillation OMIM:300842
Isolated Atp Synthase Deficiency
Hypertrophic cardiomyopathy, Arrhythmia, Dilated cardiomyopathy ORPHA:254913
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failu... ORPHA:2326
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Cerebell... ORPHA:99901
Propionic Acidemia
Arrhythmia, Cardiomyopathy ORPHA:35
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... ORPHA:1455
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hypertrophic cardiomyopathy, Dilated cardiomyopathy OMIM:614299
Duchenne Muscular Dystrophy
Calf muscle hypertrophy, Skeletal muscle atrophy, Cardiomyopathy, Flexion contracture ORPHA:98896
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyo... OMIM:115197
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia ORPHA:85447
Neutrophilic Dermatosis, Acute Febrile
Dilated cardiomyopathy, Small vessel vasculitis OMIM:608068
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Endocardial fibroelastosis, Mitral regurgitation, Cardiomyopathy OMIM:226100
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Death in infancy, Ventricular septal defect OMIM:613730
Ferguson-Bonni Neurodevelopmental Syndrome
Coronary-pulmonary artery fistula, Congenital diaphragmatic hernia, Patent foramen ovale OMIM:619699
Combined Oxidative Phosphorylation Deficiency 42
Cardiomyopathy, Decreased activity of mitochondrial complex IV, Death in infancy, Neonatal death,... OMIM:618839
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy, Decreased activity of mitochondrial complex IV, Death in infancy, Ne... OMIM:618835
Primary Triglyceride Deposit Cardiomyovasculopathy
Rimmed vacuoles, Coronary artery stenosis, Cardiomyopathy, Abnormal cardiomyocyte morphology, Pal... ORPHA:565612
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Mitochondrial Trifunctional Protein Deficiency 1
Dilated cardiomyopathy, Congestive heart failure, Rhabdomyolysis, Myopathy, Arrhythmia OMIM:609015
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Heart Block, Congenital
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... OMIM:234700
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Dilated cardiomyopathy, Rhabdomyolysis, Ventricular septal defect, ... OMIM:614921
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte hypertrophy OMIM:605676
Fanconi Anemia, Complementation Group O
Abnormal heart morphology, Miscarriage, Death in infancy, Neonatal death OMIM:613390
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Cardiomyopathy, Myopathy, Calf muscle hypertrophy... ORPHA:119
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Transposition of the great a... OMIM:253800
Gm1-Gangliosidosis, Type I
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Abnormal heart valve morphology, Congestive ... OMIM:230500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Dilatation of the ventricular cavity, Rig... OMIM:609040
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri... OMIM:615745
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extrasystoles, Ab... ORPHA:37553
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Aortic root aneurysm, Aortic dissection, Congestive heart failure, Hypert... ORPHA:3342
Grange Syndrome
Coronary artery stenosis, Renal artery stenosis, Bicuspid aortic valve, Carotid artery stenosis, ... OMIM:602531
Dilated Cardiomyopathy With Ataxia
Diaphragmatic eventration, Dilated cardiomyopathy, Muscular ventricular septal defect, Prolonged ... ORPHA:66634
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Ventricular tachycardia, Ventricular fibrill... OMIM:300952
Naxos Disease
Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ... ORPHA:34217
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Pulmonary venous hype... ORPHA:75249
Hypoplastic Left Heart Syndrome 2
Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect OMIM:614435
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Ragged-red muscle fibers ORPHA:70595
Collagenoma, Familial Cutaneous
Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ... OMIM:115250
Oculopharyngodistal Myopathy 1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Distal a... OMIM:164310
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:617205
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Bradycardia OMIM:610768
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dilat... OMIM:607459
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Hypertension, Cardiomyopathy OMIM:102200
Right Atrial Isomerism
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Pulmonary artery atr... OMIM:208530
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Tachycardia, Left ventricular hypertrophy, Dilated cardiomyopathy OMIM:618321
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Quadriceps muscle weakness, Shoulder girdle muscle weakness, Reduced left... ORPHA:254892
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Mitral regurgitation, Ventricular septal defect ORPHA:261250
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Dilated cardiomyopathy, Skeletal muscle atrophy, Cardiomyopathy, Congestive heart f... OMIM:615895
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Prolonged QT interval ORPHA:71212
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Elbow flexion contracture, Increased muscle lipid content, Knee flexion c... OMIM:608836
Meacham Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Scimitar anomaly, Death in childhood, Death in infan... OMIM:608978
Hec Syndrome
Arrhythmia, Endocardial fibroelastosis, Cardiomyopathy ORPHA:2119
Melas
Dilated cardiomyopathy, Cardiomyopathy, Concentric hypertrophic cardiomyopathy, Hypertrophic card... ORPHA:550
Chromosome 15Q25 Deletion Syndrome
Coronary artery fistula, Congenital diaphragmatic hernia, Ventricular septal defect, Abnormal car... OMIM:614294
Ohdo Syndrome, Sbbys Variant
Dilated cardiomyopathy OMIM:603736
Right Pulmonary Artery, Anomalous Origin Of, Familial
Coarctation of aorta, Anomalous origin of right pulmonary artery from ascending aorta, Patent for... OMIM:610338
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Atrial septal defect, Dextroca... OMIM:619702
Abdominal Obesity-Metabolic Syndrome 3
Hypertension, Myocardial infarction, Coronary artery stenosis OMIM:615812
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Coronary artery fistula, Ventricular septal defect, Atrial septal defect, Neonatal death OMIM:620024
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Abnormal heart morphology, Neonatal death OMIM:619362
Methylmalonic Aciduria, Cblb Type
Dilated cardiomyopathy OMIM:251110
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Rhabdomyolysis, Patent foramen ovale, Concentric hypertrophic cardiomyopathy OMIM:610505
Dyskeratosis Congenita, Autosomal Dominant 2
Dilated cardiomyopathy OMIM:613989
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Systolic heart murmur, Aortic... ORPHA:2299
Dominant Beta-Thalassemia
Arrhythmia, Dilated cardiomyopathy, High-output congestive heart failure, Hypoplasia of the muscu... ORPHA:231226
Vici Syndrome
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Myopathy, Left ventricular hype... OMIM:242840
Tangier Disease
Coronary artery stenosis, Facial diplegia, Left ventricular hypertrophy, Carotid artery stenosis,... ORPHA:31150
Short Stature, Microcephaly, And Endocrine Dysfunction
Dilated cardiomyopathy OMIM:616541
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pericardial effusion, Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure ORPHA:73224
3-Hydroxy-3-Methylglutaric Aciduria
Cardiac arrest, Hypotension, Dilated cardiomyopathy ORPHA:20
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, H... OMIM:261740
Sweet Syndrome
Myositis, Dilated cardiomyopathy, Small vessel vasculitis ORPHA:3243
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Flexion contracture, Dilated cardiomyopathy, Skeletal muscle atrophy ORPHA:89842
Beta-Thalassemia Major
Arrhythmia, Dilated cardiomyopathy, High-output congestive heart failure, Hypoplasia of the muscu... ORPHA:231214
Mitochondrial Dna-Associated Leigh Syndrome
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiac conduction abnormality, Ragged-red m... ORPHA:255210
Amyloidosis, Finnish Type
Decreased heart rate variability, Cardiac amyloidosis, Cardiomyopathy, Orthostatic hypotension OMIM:105120
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Abnormal heart morphology, Pulmo... ORPHA:79282
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Pulmonary embolism, Skeletal muscle atrophy, Congestive heart failure, Tr... ORPHA:3260
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Third degree atrioventricular block, Biventricular hypertrophy, Atriovent... OMIM:619573
Alstrom Syndrome
Congestive heart failure, Dilated cardiomyopathy, Hypertension, Atherosclerosis OMIM:203800
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Vasculitis, Dilated cardiomyopathy, Portal hypertension, Raynaud phenomenon, Hypertension OMIM:615688
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitatio... ORPHA:2556
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Premature coronary artery atherosclerosis, Abnormal tendon morphology, Aort... ORPHA:391665
Lymphatic Malformation 13
Mitral regurgitation, Patent foramen ovale, Neonatal death, Pulmonary arterial hypertension, Atri... OMIM:620244
Steinert Myotonic Dystrophy
Abnormality of the tongue muscle, Dilated cardiomyopathy, Skeletal muscle atrophy, Distal amyotro... ORPHA:273
1P36 Deletion Syndrome
Dilated cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Tetralogy of Fa... ORPHA:1606
Chromosome 1P36 Deletion Syndrome, Distal
Dilated cardiomyopathy, Aortic root aneurysm, Camptodactyly of finger, Tetralogy of Fallot, Paten... OMIM:607872
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Bradycardia ORPHA:79404
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Flexion contracture, Dilated cardiomyopathy, Foot joint contracture ORPHA:79408
Choreoacanthocytosis
Peroneal muscle atrophy, Distal amyotrophy, Dilated cardiomyopathy, Muscle fiber atrophy, Myopathy ORPHA:2388
Williams-Beuren Syndrome
Peripheral pulmonary artery stenosis, Coronary artery stenosis, Myxomatous mitral valve degenerat... OMIM:194050
Johanson-Blizzard Syndrome
Dilated cardiomyopathy, Situs inversus totalis, Portal hypertension, Ventricular septal defect, A... OMIM:243800
Alström Syndrome
Dilated cardiomyopathy, Congestive heart failure, Portal hypertension, Pulmonary arterial hyperte... 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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