Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
growth arrest-specific 2 like 3
Synonyms:
LOC237436,  8430435B07Rik

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 Gas2l3 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 Gas2l3 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
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... 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, Congestive heart failure, Syncope OMIM:613694
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Syncope OMIM:613697
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:606685
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Cardiomyopathy, Dilated, 1J
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure, Abnormal left ventricular... OMIM:605362
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Shoulder girdle muscle atrophy, Scapular winging, Proximal amyotrophy, Muscular dystrophy, Calf m... OMIM:604286
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:613172
Glycogen Storage Disease Due To Lamp-2 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:34587
Cardiomyopathy, Dilated, 1X
Dilated cardiomyopathy OMIM:611615
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Congestive heart failure, Ventricular arrhythmia, Reduced systolic function OMIM:609909
His Bundle Tachycardia
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Arrhythmia, Restricted neck movement due to contractures, Scapular winging, Peroneal muscle atrop... OMIM:181350
Cardiomyopathy, Dilated, 1D
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... OMIM:601494
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Heart-Hand Syndrome, Slovenian Type
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Supraventricular arrhythmia, Ab... ORPHA:168796
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Myopathy, Distal, 1
Type 1 muscle fiber predominance, Amyotrophy of ankle musculature, Facial palsy, Rimmed vacuoles,... OMIM:160500
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
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, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... OMIM:600884
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Reduced muscle fiber alpha dystroglycan, Pelvic girdle muscle weakness, Shoul... ORPHA:34515
Cardiomyopathy, Dilated, 1Kk
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Ventricular septal h... OMIM:615248
Cardiomyopathy, Dilated, 2C
Dilated cardiomyopathy, Reduced ejection fraction, Pulmonary arterial hypertension OMIM:618189
Cog7-Cdg
Hypertrophic cardiomyopathy ORPHA:79333
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
Cardiomyopathy, Familial Restrictive, 3
Cardiomyopathy OMIM:612422
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy OMIM:613752
Dpm3-Cdg
Muscular dystrophy, Pelvic girdle muscle weakness, Rimmed vacuoles, Dilated cardiomyopathy, Calf ... ORPHA:263494
Cardiomyopathy, Familial Hypertrophic, 11
Arrhythmia, Hypertrophic cardiomyopathy OMIM:612098
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Limb-girdle muscular dystrophy, Rimmed vacuoles, Dilated cardiomyopathy, Myopathy, Increased vari... OMIM:612937
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Intrinsic hand muscle atrophy, Hip flexor weakness, Proximal muscle weakness in lower limbs, Dist... ORPHA:63273
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Myof... OMIM:609200
Myopathy, Myosin Storage, Autosomal Recessive
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotro... OMIM:255160
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle weakness, Facial palsy, Dil... OMIM:300580
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Myopathy OMIM:610140
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Flexion contracture, Increased variability in muscle fiber diameter OMIM:300718
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Flexion contracture, Limb-girdle mu... OMIM:608099
Myopathy, Myofibrillar, 1
EMG: myopathic abnormalities, Restrictive cardiomyopathy, Facial palsy, Third degree atrioventric... OMIM:601419
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Atrial fibrillation, Aortic valve stenosis, Doub... OMIM:617912
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Proximal amyotrophy, Left ventricular systolic dysfunction, Limb-girdle muscula... ORPHA:206559
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Myopathy ORPHA:154
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Dilated cardiomyopathy OMIM:618097
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Macroglossia, Muscular dystrophy, Reduced systolic function, Triangular tongue, Skeletal muscle a... OMIM:616827
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hypertrophic cardiomyopathy, Abnormal heart morphology OMIM:618250
Salih Myopathy
Arrhythmia, Centrally nucleated skeletal muscle fibers, Flexion contracture, Facial palsy, Dilate... OMIM:611705
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation OMIM:615184
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Mitral regurgitation, Ventricular arrhythmia OMIM:615916
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hepatomegaly, Hypertrophic cardiomyopathy ORPHA:79281
Adult-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Increased muscle lipid content, Flexion contracture, Lower limb mus... ORPHA:171442
Endocardial Fibroelastosis
Endocardial fibroelastosis, Congestive heart failure, Cardiomyopathy OMIM:226000
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Muscular Dystrophy, Congenital, Megaconial Type
Congenital muscular dystrophy, Muscular dystrophy, Facial palsy, Dilated cardiomyopathy, Myopathy OMIM:602541
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation OMIM:614672
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Pericardial effusion, Atrial flutter, Atrial fibrillation, Congestive hea... OMIM:115200
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Ethanolaminosis
Cardiomegaly OMIM:227150
Danon Disease
EMG: myopathic abnormalities, Myocardial fibrosis, Myocardial necrosis, Arrhythmia, Wolff-Parkins... OMIM:300257
Cardiomyopathy, Familial Hypertrophic, 15
Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:613255
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy OMIM:610768
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Dilated cardiomyopathy, Hepatomegaly OMIM:615895
Gne Myopathy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Hip flexor weakne... ORPHA:602
Laing Early-Onset Distal Myopathy
EMG: myopathic abnormalities, Foot dorsiflexor weakness, Weakness of orbicularis oculi muscle, Ab... ORPHA:59135
Myopathy, Centronuclear, 5
Dilated cardiomyopathy, Hip contracture, Facial palsy OMIM:615959
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles, Hypertrophic cardiomyopathy OMIM:609500
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Flexion contracture, Abnormal mitochondria in muscle t... OMIM:252011
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Myopathy, Abnormality of the calf musculat... OMIM:614065
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Cardiomyopathy, Familial Restrictive, 1
Sudden cardiac death, Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hyper... OMIM:115210
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... OMIM:602087
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiom... OMIM:611556
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Cardiomyocyte hypertrophy, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia OMIM:605676
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Hypertrophic cardiomyopathy OMIM:614582
Hemochromatosis, Type 2A
Arrhythmia, Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiom... OMIM:602390
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy, Cardiomyopathy OMIM:225740
Dyskinesia, Familial, With Facial Myokymia
Dilated cardiomyopathy, Facial myokymia, Congestive heart failure, Limb hypertonia OMIM:606703
Cardiomyopathy, Familial Hypertrophic, 28
Asymmetric septal hypertrophy, Reduced ejection fraction, Atrial fibrillation, Concentric hypertr... OMIM:619402
Myopathy, X-Linked, With Postural Muscle Atrophy
Arrhythmia, Scapular winging, Flexion contracture, Rimmed vacuoles, Hypertrophic cardiomyopathy OMIM:300696
Nemaline Myopathy 3
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Type 1 muscle fiber predominanc... OMIM:161800
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Atrial septal defect, Bicuspid aortic valve OMIM:615981
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Facial myokymia, Congestive heart failure, Limb hypertonia ORPHA:324588
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... OMIM:602086
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Tricuspid regurgitation, Congestive heart failure, Bicuspid aortic valve,... OMIM:613426
Nemaline Myopathy 11, Autosomal Recessive
Facial palsy, Scapular winging, Nemaline bodies, Cardiomyopathy OMIM:617336
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Flexion contracture, Bradycardia, Hypertrophic cardiomyopathy OMIM:618815
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy ORPHA:2229
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Arrhythmia, Left ventricular hypertrophy, Cardiomyopathy OMIM:614676
Barth Syndrome
Arrhythmia, Endocardial fibroelastosis, Skeletal myopathy, Congestive heart failure, Dilated card... OMIM:302060
Cardiomyopathy Associated With Myopathy And Sudden Death
Asymmetric septal hypertrophy, Myopathy OMIM:212130
Distal Nebulin Myopathy
EMG: myopathic abnormalities, Cardiomyopathy, Weakness of the intrinsic hand muscles, Nemaline bo... ORPHA:399103
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy OMIM:615395
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Patent ductus arteriosus,... OMIM:604169
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomyopathy OMIM:609016
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Wrist drop, Intrinsic hand muscle atrophy, Leg muscle stiffness, Abnormal left ventricular functi... ORPHA:98912
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Pericardial effusion, Atrial flutter, Atr... ORPHA:300751
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613690
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Leg muscle stiffness, Distal lower limb muscle weakness, Supraventricular arrhythmia, Cardiomyopathy ORPHA:320360
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Dilated cardiomyopathy, Hepatomegaly, Hypertrophic cardiomyopathy OMIM:614299
Muscular Dystrophy, Becker Type
Arrhythmia, Muscular dystrophy, Cardiomyopathy, Calf muscle pseudohypertrophy, Abnormal EKG OMIM:300376
Cardiomyopathy, Familial Hypertrophic, 18
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613874
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Sudden cardiac death, Right ventricular cardiomyopathy OMIM:107970
Distal Myotilinopathy
EMG: myopathic abnormalities, Abnormal muscle fiber myotilin, Distal amyotrophy, Multiple joint c... ORPHA:98911
Myopathy, Congenital, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... OMIM:255310
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Ventricular tachycardia OMIM:600649
Mitochondrial Dna Depletion Syndrome 11
Arrhythmia, Proximal amyotrophy, Generalized amyotrophy, Facial palsy, Dilated cardiomyopathy OMIM:615084
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failure, Prolonged QT interv... OMIM:610198
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Congenital Muscular Dystrophy, Fukuyama Type
Camptodactyly of finger, Muscular dystrophy, Flexion contracture, Hypoglycosylation of alpha-dyst... ORPHA:272
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Supraventricular arr... ORPHA:98855
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertension, Congestive heart failure, Dilated cardiomyopathy, Ragged-red muscle fibers, Hypertr... ORPHA:1349
Muscular Dystrophy, Duchenne Type
Arrhythmia, Muscular dystrophy, Cardiomyopathy, Flexion contracture, Congestive heart failure, Ca... OMIM:310200
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Myopathy, Supraventricular tachycardia, Fatty replacement of skeletal muscle, Cardiomyopathy OMIM:255100
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Left ventricular systolic dysfunction, Tricuspid regurgitation, Hepatomeg... OMIM:619167
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Supraventricular arr... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Supraventricular arr... ORPHA:261
Alpha-B Crystallin-Related Late-Onset Myopathy
EMG: myopathic abnormalities, Facial diplegia, Muscle fiber inclusion bodies, Autophagic vacuoles... ORPHA:399058
Atrial Standstill 1
Premature atrial contractions, Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibril... OMIM:108770
Peripartum Cardiomyopathy
Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardiac atrium morphology... ORPHA:563
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnormal Z disc mo... OMIM:618654
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Myocardial fibrosis, Ventricular tachycardia, Left ventricular hypertrophy, Cardiom... OMIM:613873
Mcleod Syndrome
Rhabdomyolysis, Atrial fibrillation, Dilated cardiomyopathy, Myopathy, Hepatosplenomegaly, Cardio... OMIM:300842
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Dilated cardiomyopathy, Rhabdomyolysis OMIM:618120
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyopathy, Syn... OMIM:610476
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Arrhythmia, Ragged-red muscle fibers, Generalized amyotrophy, Dilated cardiomyopathy, Myopathy, W... ORPHA:352447
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Arrhythmia, Cardiomyopathy, Proximal amyotrophy OMIM:612999
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Limb-girdle muscle weakness, Muscular dystrophy, Flexion contracture, Cardiomyopathy OMIM:609308
Myopathy, Myofibrillar, 2
EMG: myopathic abnormalities, Muscular dystrophy, Autophagic vacuoles, Limb-girdle muscle weaknes... OMIM:608810
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Left atrial enl... OMIM:608751
Hemochromatosis Type 2
Dilated cardiomyopathy ORPHA:79230
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613876
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis OMIM:192600
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Ventricular ... OMIM:607598
Giant Axonal Neuropathy 2, Autosomal Dominant
Distal amyotrophy, Cardiomyopathy OMIM:610100
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy OMIM:618235
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Hepatomegaly, Reduced systolic function OMIM:618805
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Muscular dystrophy, Cardiomyopathy OMIM:309930
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Dilated cardiomyopathy, Mitral regurgitation OMIM:212112
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal muscle glycogen content, Flexion contracture, Hepatomegaly, Congestive heart failure, Sk... ORPHA:367
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Macroglossia, Congenital muscular dystrophy, Abnormal left ventricular function, Pelvic girdle mu... OMIM:607155
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy OMIM:615119
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Global systolic dysfunction, Nemaline bodies, Limb muscle weakness, Cardiomyopathy OMIM:606842
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Cardiomyopathy, Autophagic vacuoles, Myofibrillar myopathy, Muscle ... OMIM:609452
Polymyositis
Abnormal muscle fiber morphology, Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Abnormal... ORPHA:732
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Microcephaly 13, Primary, Autosomal Recessive
Cardiomyopathy OMIM:616051
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Restrictive cardiomyopathy, Endocardial fibrosis, Splenomegaly OMIM:607685
Triose Phosphate-Isomerase Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy ORPHA:868
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Cerebral hemorrhage, Ischemic stroke, Hypertension ORPHA:280679
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Tachycardia, Syncope OMIM:615821
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Dilated cardiomyopathy, Mitral valve prolapse, Left ventricular systolic dysfunction OMIM:145350
Atrial Standstill
Cardiac conduction abnormality, Muscular dystrophy, Sick sinus syndrome, Skeletal muscle atrophy,... ORPHA:1344
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Hypertrophic cardiomyopathy OMIM:617184
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Dilated cardiomyopathy, Cerebral hemorrhage, Abnormal left ventricle morphology OMIM:300845
Combined Oxidative Phosphorylation Deficiency 23
Arrhythmia, Congestive heart failure, Cardiomyopathy OMIM:616198
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia OMIM:300952
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:231530
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy OMIM:614053
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, EMG: myopathic abnormalities, Ventricular hypertrophy, Arrhythmia, Decreased muscle... ORPHA:263297
Mitochondrial Complex I Deficiency, Nuclear Type 22
Hypertrophic cardiomyopathy OMIM:618243
Malonyl-Coa Decarboxylase Deficiency
Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy OMIM:248360
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia OMIM:612124
Neonatal Lupus Erythematosus
Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, Abnormal heart morphology, Hepa... ORPHA:398124
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyopathy OMIM:615352
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Abnormal heart valve morphology, Hypertension, Pulmonary embolism, Congestive heart f... ORPHA:1345
Mitochondrial Complex I Deficiency, Nuclear Type 20
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:611126
Acyl-Coa Dehydrogenase 9 Deficiency
EMG: myopathic abnormalities, Cerebellar hemorrhage, Sudden cardiac death, Congestive heart failu... ORPHA:99901
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Macroglossia, Congenital muscular dystrophy, Muscular dystrophy, Flexion contracture, Abnormal le... OMIM:613155
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Hypertrophic cardiomyopathy OMIM:615418
Megabladder, Congenital
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, P... OMIM:618719
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Syncope, Left bundle branch block, Hepatomegaly, A... OMIM:115197
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Myopathy, Cardiomyopathy, Increased muscle lipid content OMIM:610717
Amyloidosis, Finnish Type
Cardiac amyloidosis, Cardiomyopathy OMIM:105120
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, ... ORPHA:45453
9Q31.1Q31.3 Microdeletion Syndrome
Dilated cardiomyopathy, Renovascular hypertension, Aortic regurgitation, Bicuspid aortic valve ORPHA:401923
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... ORPHA:217607
Alg1-Cdg
Hypertrophic cardiomyopathy ORPHA:79327
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Congestive heart failure, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy OMIM:617222
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Myopathy, Flexion contracture, Facial palsy, Cardiomyopathy OMIM:201470
Developmental And Epileptic Encephalopathy 35
Cardiomyopathy OMIM:616647
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Triceps weakness, Type 1 muscle f... ORPHA:86812
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy ORPHA:254857
Gm1-Gangliosidosis, Type I
Abnormal heart valve morphology, Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated ca... OMIM:230500
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiomyopathy ORPHA:85447
Neutrophilic Dermatosis, Acute Febrile
Dilated cardiomyopathy, Small vessel vasculitis OMIM:608068
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Flexion contracture, Cardiomyopathy, Splenomegaly OMIM:608540
Cardiomyopathy, Familial Hypertrophic, 13
Right bundle branch block, ST segment depression, Atrial fibrillation, Biventricular hypertrophy,... OMIM:613243
Hemochromatosis, Type 2B
Hepatomegaly, Congestive heart failure, Cardiomyopathy, Splenomegaly OMIM:613313
Propionic Acidemia
Hepatomegaly, Arrhythmia, Cardiomyopathy ORPHA:35
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Dilated cardiomyopathy, Ragged-red muscle fibers, Muscle fiber necrosis, Increased variability in... OMIM:607459
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Myopathy, Cardiomyopathy OMIM:617713
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... OMIM:613838
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Ventricular extrasystoles, Right ventricular cardiomyopathy OMIM:604401
Congenital Disorder Of Glycosylation, Type It
Rhabdomyolysis, Sudden cardiac death, Tachycardia, Dilated cardiomyopathy, Aborted sudden cardiac... OMIM:614921
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Contractures of the large joints, Atrial flutter, Congestive heart failure, Cardiomegaly OMIM:300886
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscular dystrophy, Flexion contracture, Calf muscle pseudohypertrophy, Right ventricular hypertr... OMIM:253700
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Dilated cardiomyopathy, Arrhythmia, Ventricular septal defect, Pericardial ... ORPHA:26793
Duchenne Muscular Dystrophy
Calf muscle hypertrophy, Flexion contracture, Cardiomyopathy, Skeletal muscle atrophy ORPHA:98896
Mitochondrial Trifunctional Protein Deficiency
Arrhythmia, Rhabdomyolysis, Congestive heart failure, Dilated cardiomyopathy, Myopathy OMIM:609015
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... OMIM:600858
Idiopathic/Heritable Pulmonary Arterial Hypertension
Palpitations, Syncope, Abnormal cardiovascular system physiology, Tricuspid regurgitation, Hepato... ORPHA:422
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy OMIM:618683
Childhood-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Scapular winging, Increased mus... ORPHA:171439
Hemochromatosis, Type 4
Arrhythmia, Cardiomyopathy OMIM:606069
Ohdo Syndrome, Sbbys Variant
Dilated cardiomyopathy OMIM:603736
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Dilated cardiomyopathy, Ragged-red muscle fibers, Increased variability in muscle fiber diameter ORPHA:70595
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Pelvic girdle muscle weakness, Calf muscle hypertrophy, Myopathy, Cardiomyopathy, Increased varia... ORPHA:119
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Prolonged QT interval, Cardiomegaly, Tricuspid regurgitation OMIM:618052
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven... OMIM:610193
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Arrhythmia, Increased muscle lipid content, Enlarged kidney, ... OMIM:608836
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Familial Cutaneous Collagenoma
Angina pectoris, Atrial septal defect, Congestive heart failure, Cardiomyopathy ORPHA:53296
Glycogen Storage Disease Iii
Ventricular hypertrophy, Hepatomegaly, Distal amyotrophy, Myopathy, Cardiomyopathy OMIM:232400
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced ejection fraction, Aortic regurgitation, Patent ductus arteriosus, Tricuspid regurgitatio... OMIM:616501
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Pulmonary insufficiency, Heart murmur, Double outlet right ventricle, Conge... ORPHA:2326
Carnitine Deficiency, Systemic Primary
Reduced muscle carnitine level, Endocardial fibroelastosis, Hepatomegaly, Congestive heart failur... OMIM:212140
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Neonatal death, Cardiomyopathy OMIM:619003
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... OMIM:607450
Ventricular Arrythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Sudden cardiac death, Ventricular fibrillati... OMIM:115000
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Prolonged QT interval, Prolonged prothrombin time, Hypertrophic cardiomyo... ORPHA:71212
Hurler-Scheie Syndrome
Abnormal heart valve morphology, Splenomegaly, Cardiomyopathy, Hepatomegaly ORPHA:93476
Dyskeratosis Congenita, Autosomal Dominant 2
Dilated cardiomyopathy OMIM:613989
Oculopharyngodistal Myopathy 1
EMG: myopathic abnormalities, Paroxysmal atrial fibrillation, Autophagic vacuoles, Distal amyotro... OMIM:164310
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Combined Oxidative Phosphorylation Deficiency 3
Dilated cardiomyopathy, Rhabdomyolysis, Concentric hypertrophic cardiomyopathy, Patent ductus art... OMIM:610505
Sick Sinus Syndrome 2
Aortic regurgitation, Atrial fibrillation, Sick sinus syndrome, Ventricular fibrillation, Left ve... OMIM:163800
Nephronophthisis 16
Situs inversus totalis, Enlarged kidney, Patent ductus arteriosus, Pulmonic stenosis, Aortic valv... OMIM:615382
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Atrial septal defect, Myocardial fibrosis, Congenital muscular dystrophy, Flexion contracture, Pu... OMIM:253800
Peroxisome Biogenesis Disorder 9B
Cardiomyopathy OMIM:614879
Dilated Cardiomyopathy With Ataxia
Diaphragmatic eventration, Generalized amyotrophy, Muscular ventricular septal defect, Prolonged ... ORPHA:66634
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy ORPHA:67048
Naxos Disease
Arrhythmia, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricular tachycardia, C... ORPHA:34217
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Anomalous pulmonary venous return, Palpitations, Cardiac conductio... ORPHA:99105
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Ventricular arrhythmia, Palpitations, Syncope, Sudden cardiac death, Right ventricular cardiomyop... OMIM:609040
Familial Atrial Myxoma
Cardiac myxoma, Tricuspid regurgitation, Pulmonic valve myxoma, Congestive heart failure, Heart m... ORPHA:615
Vici Syndrome
Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopathy, Myopathy, Cardiom... OMIM:242840
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Cardiomyopathy ORPHA:3222
Leigh Syndrome With Cardiomyopathy
Cardiac conduction abnormality, Pulmonic stenosis, Congestive heart failure, Dilated cardiomyopat... ORPHA:70474
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortened PR inte... OMIM:261740
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy OMIM:520000
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Ventricular arrhythmia, Effort-induced polymorphic ventricular tachycardia, Right ventricular car... OMIM:600996
Timothy Syndrome
Ventricular septal defect, Patent ductus arteriosus, Prolonged QT interval, Cardiomegaly, Patent ... OMIM:601005
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Truncus arteriosus, Stillbirth, Enlarged kidney, Hepatomegaly, Pulmonic s... OMIM:615415
Refsum Disease, Classic
Arrhythmia, Congestive heart failure, Cardiomegaly, Limb muscle weakness, Cardiomyopathy OMIM:266500
Autosomal Dominant Progressive External Ophthalmoplegia
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, EMG: myopathic abnor... ORPHA:254892
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
EMG: myopathic abnormalities, Ragged-red muscle fibers, Generalized amyotrophy, Facial palsy, Mus... OMIM:258450
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Mitral regurgitation, Ventricular septal defect ORPHA:261250
Melas
Cardiac conduction abnormality, Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Concent... ORPHA:550
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Syncope, Atrial fibrillation, Abnormal left ventricular function, Tr... ORPHA:75249
Atrial Standstill 2
Palpitations, Atrial standstill, Atrial cardiomyopathy, Atrial arrhythmia, Absent P wave, Bradyca... OMIM:615745
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Myopathy, Flexion contracture, Nemaline bodies, Cardiomyopathy OMIM:616549
Alstrom Syndrome
Dilated cardiomyopathy, Congestive heart failure, Hypertension, Hepatomegaly OMIM:203800
Pituitary Adenoma 1, Multiple Types
Hypertension, Left ventricular hypertrophy, Cardiomyopathy OMIM:102200
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time, Cardiomyopathy OMIM:616483
Thiamine-Responsive Megaloblastic Anemia Syndrome
Arrhythmia, Atrial septal defect, Situs inversus totalis, Ventricular septal defect, Cardiomyopathy OMIM:249270
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly, Abnormal... ORPHA:1329
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Dominant Beta-Thalassemia
Arrhythmia, Hypoplasia of the musculature, Splenomegaly, High-output congestive heart failure, Di... ORPHA:231226
Arterial Tortuosity Syndrome
Hypertension, Telangiectasia of the skin, Myocardial infarction, Congestive heart failure, Cardia... ORPHA:3342
Collagenoma, Familial Cutaneous
Atrial fibrillation, Tricuspid regurgitation, Congestive heart failure, Vasculitis, Right ventric... OMIM:115250
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Hepatomegaly, Cardiac arrest, Dilated cardiomyopathy, Prolonged prothrombin time ORPHA:20
Hemochromatosis, Type 1
Arrhythmia, Hepatomegaly, Congestive heart failure, Cardiomegaly, Splenomegaly, Telangiectasia, C... OMIM:235200
Heart Block, Congenital
Myocardial fibrosis, Absent atrioventricular node, Myocardial calcification, Atrial arrhythmia, A... OMIM:234700
Hec Syndrome
Endocardial fibroelastosis, Arrhythmia, Cardiomyopathy ORPHA:2119
Beta-Thalassemia Major
Arrhythmia, Hepatomegaly, Hypoplasia of the musculature, Splenomegaly, High-output congestive hea... ORPHA:231214
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Tricuspid regurgitatio... OMIM:618652
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Limb hypertonia, Cardiomegaly OMIM:619170
Mitochondrial Dna-Associated Leigh Syndrome
Cardiac conduction abnormality, Hepatomegaly, Dilated cardiomyopathy, Ragged-red muscle fibers, H... ORPHA:255210
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Cardiomegaly, Hepatomegaly OMIM:619064
Hemochromatosis, Type 3
Cardiomyopathy OMIM:604250
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Skeletal muscle atrophy, Splenomegaly, Cardiomyopathy OMIM:256550
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Arrhythmia, Limb muscle weakness, Ragged-red muscle fibers, Bradyca... OMIM:609286
Polyarteritis Nodosa
Raynaud phenomenon, Hypertension, Pericarditis, Cardiomyopathy ORPHA:767
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Right atrial enlargement, Pulmonary arterial hypertensio... ORPHA:99106
Short Stature, Microcephaly, And Endocrine Dysfunction
Dilated cardiomyopathy OMIM:616541
American Trypanosomiasis
Arrhythmia, Achalasia, Hepatomegaly, Congestive heart failure, Splenomegaly, Myocarditis, Cardiom... ORPHA:3386
Sweet Syndrome
Dilated cardiomyopathy, Myositis, Small vessel vasculitis ORPHA:3243
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Secundum atrial septal defect, Flexi... OMIM:616866
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Contractures of the large joints, Abnormal atrioventricular valve morphology, Tri... ORPHA:324410
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced ejection fraction, Scapular winging, Muscular edema, Lower limb muscle weakness, Proximal... ORPHA:268
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Ventricular extrasystoles, Rhabdomyolysis, Ventricular tach... OMIM:212138
Tubular Renal Disease-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Pericardial effusion, Sudden cardiac death, Congestive heart failure ORPHA:73224
Glycogen Storage Disease Iv
Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Portal hypertension, Hepatosplenomeg... OMIM:232500
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Single ventricle, Cardiac conduction abnormality, Supraventricular... ORPHA:216694
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiomegaly, Cardiogenic ... ORPHA:75565
Triglyceride Deposit Cardiomyovasculopathy
Palpitations, Abnormality of the shoulder girdle musculature, Arrhythmia, Coronary artery stenosi... ORPHA:565612
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Arrhythmia, Rhabdomyolysis, Hepatomegaly, Myopathy, Cardiomyopathy ORPHA:228305
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hypertension, Hepatomegaly, Splenomegaly, Dilated cardiomyopathy, Portal hypertension, Hepatosple... OMIM:615688
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Abnormal left ventricular function, Tricuspid regurgitation, Right atrial enlarge... ORPHA:99103
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction OMIM:105210
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Reduced ejection fraction, Exercise-induced rhabdomyolysis, Sudden cardiac death, Hepatomegaly, C... OMIM:201475
Atrial Septal Defect, Coronary Sinus Type
Palpitations, Anomalous pulmonary venous return, Arrhythmia, Bundle branch block, Right ventricul... ORPHA:99104
Idiopathic Hypereosinophilic Syndrome
Supraventricular arrhythmia, Intracranial hemorrhage, Vasculitis in the skin, Pulmonary embolism,... ORPHA:3260
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Cardiomyopathy OMIM:618839
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Abnormal heart morphology, Subdural hemorrhage, Pulmonary arterial hypertension, Pulmonary emboli... ORPHA:79282
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Arrhythmia, Cardiomegaly OMIM:255120
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Endocardial fibroelastosis, Mitral regurgitation, Cardiomyopathy OMIM:226100
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Facial hypotonia, Left ventricular outflow tract obstruction, Hepatomegaly, Heart m... ORPHA:308552
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Dilated cardiomyopathy, Flexion contracture, Skeletal muscle atrophy ORPHA:89842
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Epistaxis, Cardiomyopathy, Hematochezia OMIM:203300
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy OMIM:610773
Familial Aortic Dissection
Patent ductus arteriosus, Abnormal left ventricular function, Cardiomegaly, Aortic regurgitation ORPHA:229
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Lower limb muscle weakness, Proximal muscle weakness in upper limbs, Distal lower limb muscle wea... ORPHA:363623
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Congestive heart failure, Limb muscle weakness, Cardiomegaly, Cardiomyopathy OMIM:619259
Microphthalmia With Linear Skin Defects Syndrome
Arrhythmia, Mitral regurgitation, Tricuspid regurgitation, Tricuspid valve prolapse, Congenital d... ORPHA:2556
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Arrhythmia, Third degree atrioventricular block, Cardiomyopathy OMIM:530000
Primary Lipodystrophy
Angina pectoris, Skeletal muscle hypertrophy, Hypertension, Congestive heart failure, Splenomegal... ORPHA:90970
Lethal Acantholytic Erosive Disorder
Camptodactyly of toe, Impaired myocardial contractility, Cardiomegaly, Hypovolemic shock, Cardiom... ORPHA:158687
Glycogen Storage Disease Ii
Macroglossia, Wolff-Parkinson-White syndrome, Firm muscles, Hepatomegaly, Shortened PR interval, ... OMIM:232300
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Cardiomegaly, Hypertension OMIM:618886
Steinert Myotonic Dystrophy
Cardiac conduction abnormality, Prolonged QRS complex, Left ventricular systolic dysfunction, Atr... ORPHA:273
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Gaucher Disease, Type Iiic
Mitral valve calcification, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Neutral Lipid Storage Myopathy
Fatty replacement of skeletal muscle, Hand muscle weakness, Increased intramyocellular lipid drop... ORPHA:98908
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Patent ductus ... OMIM:306955
1P36 Deletion Syndrome
Camptodactyly of finger, Abnormal heart valve morphology, Patent ductus arteriosus, Myopathy, Abn... ORPHA:1606
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly of finger, Atrial septal defect, Flexion contracture of finger, Ventricular septal ... OMIM:602782
Sickle Cell Anemia
Hepatomegaly, Cardiomegaly, Hypertension, Splenomegaly OMIM:603903
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Bradycardia ORPHA:79404
Choreoacanthocytosis
Peroneal muscle atrophy, Hepatomegaly, Distal amyotrophy, Splenomegaly, Dilated cardiomyopathy, M... ORPHA:2388
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Dilated cardiomyopathy, Flexion contracture, Joint contractures involving the joints of the feet ORPHA:79408
Truncus Arteriosus
Atrial septal defect, Truncus arteriosus, Aortic regurgitation, Abnormal heart morphology, Abnorm... ORPHA:3384
Visceral Steatosis, Congenital
Neonatal death, Myocardial steatosis OMIM:228100
Chronic Thromboembolic Pulmonary Hypertension
Palpitations, Right ventricular failure, Cardiac shunt, Increased pulmonary vascular resistance, ... ORPHA:70591
Chromosome 1P36 Deletion Syndrome
Camptodactyly of finger, Atrial septal defect, Noncompaction cardiomyopathy, Dilated cardiomyopat... OMIM:607872
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the skin, Cardiomegaly, Lip telangiectasia, Telangiectasia of the oral mucosa ORPHA:79280
Histiocytoid Cardiomyopathy
Ventricular septal defect, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, V... ORPHA:137675
Johanson-Blizzard Syndrome
Dilated cardiomyopathy, Atrial septal defect, Situs inversus totalis, Ventricular septal defect OMIM:243800
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Single ventricle, Patent ductus arteriosus, ... ORPHA:99125
Beckwith-Wiedemann Syndrome
Diastasis recti, Macroglossia, Enlarged kidney, Hepatomegaly, Pancreatic hyperplasia, Cardiomegal... OMIM:130650
Homozygous Familial Hypercholesterolemia
Myocardial steatosis, Angina pectoris, Abnormal left ventricular function, Tendon xanthomatosis, ... ORPHA:391665
Singleton-Merten Syndrome 1
Tendon rupture, Mitral valve calcification, Aortic valve stenosis, Congestive heart failure, Card... OMIM:182250
Alström Syndrome
Myocardial fibrosis, Pulmonary arterial hypertension, Hypertension, Hepatomegaly, Congestive hear... 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 Gas2l3

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 Gas2l3.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Deletion of Gas2l3 in mice leads to specific defects in cardiomyocyte cytokinesis during development. Proceedings of the National Academy of Sciences of the United States of America (July 2017) Gas2l3tm1c(EUCOMM)Hmgu Gas2l3tm1a(EUCOMM)Hmgu Gas2l3tm1d(EUCOMM)Hmgu PMC5544300

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MGI Allele Allele Type Produced
Gas2l3tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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