Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
calreticulin
Synonyms:
N/A

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 Calr mutations

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

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

The table below shows human diseases associated to Calr by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Essential Thrombocythemia
Myocardial infarction, Transient ischemic attack ORPHA:3318
Primary Myelofibrosis
Portal hypertension ORPHA:824
Myelofibrosis
OMIM:254450
Thrombocythemia 1
OMIM:187950

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
His Bundle Tachycardia
Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy ORPHA:3283
Acalvaria
Spina bifida, Holoprosencephaly, Omphalocele, Abnormality of neuronal migration, Hydrocephalus ORPHA:945
Myopathy, Autophagic Vacuolar, Infantile-Onset
Elevated circulating creatine kinase concentration, Myopathy, Autophagic vacuoles, Hypertrophic c... OMIM:609500
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Flexion contracture, Limb-girdle mu... OMIM:608099
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
Cog7-Cdg
Hypertrophic cardiomyopathy ORPHA:79333
Cardiomyopathy, Familial Hypertrophic, 11
Arrhythmia, Hypertrophic cardiomyopathy OMIM:612098
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy OMIM:115195
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy OMIM:115196
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
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hypertrophy, Left ventricular nonc... OMIM:601493
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy OMIM:613752
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic inclusion bodies, Myof... OMIM:609200
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele, Hydrocephalus OMIM:258320
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Diastasis recti, Ventricular septal defect, Abnormal heart morphology, Omphalocele, Umbilical hernia ORPHA:254534
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricula... OMIM:613424
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Mitochondrial Complex I Deficiency, Nuclear Type 29
Abnormal heart morphology, Hypertrophic cardiomyopathy OMIM:618250
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Congenital diaphragmatic hernia ORPHA:2141
Omphalocele, Autosomal
Inguinal hernia, Omphalocele OMIM:164750
Omphalocele
Omphalocele ORPHA:660
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
EMG: myopathic abnormalities, Limb-girdle muscular dystrophy, Increased endomysial connective tis... ORPHA:206549
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Abnormality of the diaphragm, Congenital diaphragmatic hernia OMIM:601163
Hypothyroidism, Congenital, Nongoitrous, 4
Macroglossia, Omphalocele, Umbilical hernia OMIM:275100
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Holoprosencephaly, Omphalocele, Ventricular septal defect OMIM:601357
Combined Oxidative Phosphorylation Deficiency 31
Hyperalaninemia, Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Endocardial Fibroelastosis
Endocardial fibroelastosis, Congestive heart failure, Cardiomyopathy OMIM:226000
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Endocardial fibrosis, Left ventricular hyp... OMIM:612158
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Abnormal left ventricle morphology, Left ventricular noncompaction OMIM:615373
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Omphalocele, Umbilical hernia, Ventricular septal defect ORPHA:2143
Boomerang Dysplasia
Aplasia/Hypoplasia of the abdominal wall musculature, Omphalocele ORPHA:1263
Gne Myopathy
Shoulder girdle muscle atrophy, EMG: myopathic abnormalities, Scapular winging, Hip flexor weakne... ORPHA:602
Isolated Anencephaly
Maternal diabetes, Omphalocele, Congenital diaphragmatic hernia ORPHA:563609
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Myopathy, Abnormality of the calf musculat... OMIM:614065
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular hypertrophy, Left ventricular noncompaction OMIM:601494
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Endocardial fibroelastosis, Impaired myocardial contractility OMIM:607482
Cardiomyopathy, Familial Hypertrophic, 15
Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:613255
Distal Trisomy 15Q
Camptodactyly of finger, Congenital muscular torticollis, Omphalocele ORPHA:1707
Omphalocele, X-Linked
Omphalocele OMIM:310980
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Ventricular septal defect ORPHA:93267
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Omphalocele OMIM:614450
Cardiomyopathy, Familial Hypertrophic, 28
Asymmetric septal hypertrophy, Reduced ejection fraction, Atrial fibrillation, Concentric hypertr... OMIM:619402
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Necrotizing myopathy, Cardiomyopathy OMIM:225740
Robinow Syndrome, Autosomal Recessive 2
Ventral hernia, Camptodactyly, Omphalocele, Bicuspid aortic valve OMIM:618529
Miller-Dieker Syndrome
Omphalocele, Lissencephaly ORPHA:531
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Small thenar eminence, Small hypothenar eminence, Camptodactyly, Inguinal hernia, Joint contractu... OMIM:211960
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Myopathy, X-Linked, With Postural Muscle Atrophy
Arrhythmia, Scapular winging, Flexion contracture, Rimmed vacuoles, Hypertrophic cardiomyopathy OMIM:300696
Schisis Association
Spina bifida, Omphalocele, Anencephaly, Congenital diaphragmatic hernia ORPHA:63862
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... OMIM:602087
Gillessen-Kaesbach-Nishimura Syndrome
Flexion contracture, Congenital diaphragmatic hernia, Omphalocele, Abnormal heart morphology OMIM:263210
Pseudodiastrophic Dysplasia
Omphalocele ORPHA:85174
Left Ventricular Noncompaction 1
Ventricular septal defect, Hypoplastic left heart, Left ventricular hypertrophy, Left ventricular... OMIM:604169
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Wrist drop, Intrinsic hand muscle atrophy, Leg muscle stiffness, Abnormal left ventricular functi... ORPHA:98912
Distal Nebulin Myopathy
EMG: myopathic abnormalities, Cardiomyopathy, Weakness of the intrinsic hand muscles, Nemaline bo... ORPHA:399103
Isolated Trigonocephaly
Omphalocele ORPHA:3366
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Distal lower limb muscle weakness, Leg muscle stiffness, Cardiomyopathy, Supraventricular arrhythmia ORPHA:320360
Nemaline Myopathy 11, Autosomal Recessive
Facial palsy, Scapular winging, Nemaline bodies, Cardiomyopathy OMIM:617336
Hydrocephalus With Associated Malformations
Omphalocele, Hydrocephalus OMIM:236640
Thoracoabdominal Syndrome
Patent ductus arteriosus, Omphalocele, Anencephaly, Ectopia cordis, Congenital diaphragmatic hern... OMIM:313850
Teebi Hypertelorism Syndrome
Atrial septal defect, Omphalocele, Ventricular septal defect OMIM:145420
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... OMIM:602086
Microcephaly 13, Primary, Autosomal Recessive
Cardiomyopathy, Simplified gyral pattern OMIM:616051
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Ventricular septal defect, Atrial flutter, Patent ductus arteriosus, Omphal... OMIM:601927
Fetal Valproate Spectrum Disorder
Omphalocele ORPHA:1906
Cardiomyopathy, Familial Restrictive, 1
Sudden cardiac death, Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hyper... OMIM:115210
Lethal Congenital Contracture Syndrome 10
Ventricular septal defect, Omphalocele, Torticollis, Cardiomegaly, Overriding aorta OMIM:617022
Caudal Duplication
Spina bifida, Myelomeningocele, Omphalocele ORPHA:1756
Kagami-Ogata Syndrome
Diastasis recti, Atrial septal defect, Ventricular septal defect, Flexion contracture, Omphalocel... OMIM:608149
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiom... OMIM:611556
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy OMIM:615395
Craniorachischisis
Cervical spina bifida, Sirenomelia, Spinal dysraphism, Omphalocele, Anencephaly, Congenital diaph... ORPHA:63260
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Myopathy, Supraventricular tachycardia, Fatty replacement of skeletal muscle, Cardiomyopathy OMIM:255100
Donnai-Barrow Syndrome
Ventricular septal defect, Diaphragmatic eventration, Omphalocele, Umbilical hernia, Congenital d... OMIM:222448
Triploidy
Macroglossia, Holoprosencephaly, Omphalocele, Meningocele, Abnormal cardiac septum morphology, Hy... ORPHA:3376
Muscular Dystrophy, Becker Type
Arrhythmia, Muscular dystrophy, Cardiomyopathy, Calf muscle pseudohypertrophy, Abnormal EKG OMIM:300376
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Complete atrioventricular can... OMIM:264480
Pentalogy Of Cantrell
Atrial septal defect, Ventricular septal defect, Abnormal pericardium morphology, Anencephaly, Om... ORPHA:1335
Distal Myotilinopathy
EMG: myopathic abnormalities, Abnormal muscle fiber myotilin, Distal amyotrophy, Multiple joint c... ORPHA:98911
Gastrointestinal Defects And Immunodeficiency Syndrome
Enamel hypoplasia, Ventricular septal defect, Omphalocele, Hematochezia OMIM:243150
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy OMIM:609016
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Arrhythmia, Left ventricular hypertrophy, Cardiomyopathy OMIM:614676
Glycogen Storage Disease Due To Lamp-2 Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:34587
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Limb-girdle muscle weakness, Muscular dystrophy, Flexion contracture, Cardiomyopathy OMIM:609308
Trisomy 1Q
Camptodactyly of finger, Ventricular septal defect, Patent ductus arteriosus, Omphalocele, Congen... ORPHA:261344
Atrial Standstill 1
Premature atrial contractions, Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibril... OMIM:108770
Trigonocephaly 1
Omphalocele OMIM:190440
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Sudden cardiac death, Right ventricular cardiomyopathy OMIM:107970
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyopathy, Syn... OMIM:610476
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613690
3-Methylglutaconic Aciduria, Type Iv
Subvalvular aortic stenosis, Inguinal hernia, Biventricular hypertrophy OMIM:250951
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Ventricular septal defect OMIM:617895
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Muscular dystrophy, Arrhythmia, Cardiomyopathy, Proximal amyotrophy OMIM:612999
Giant Axonal Neuropathy 2, Autosomal Dominant
Distal amyotrophy, Cardiomyopathy OMIM:610100
Cardiomyopathy, Dilated, 1Kk
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Ventricular septal h... OMIM:615248
Carpenter Syndrome 1
Atrial septal defect, Ventricular septal defect, Camptodactyly, Patent ductus arteriosus, Omphalo... OMIM:201000
Non-Syndromic Posterior Hypospadias
Omphalocele, Congenital diaphragmatic hernia ORPHA:95706
Atrial Standstill
Cardiac conduction abnormality, Muscular dystrophy, Sick sinus syndrome, Skeletal muscle atrophy,... ORPHA:1344
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... OMIM:608751
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Alpha-B Crystallin-Related Late-Onset Myopathy
EMG: myopathic abnormalities, Facial diplegia, Muscle fiber inclusion bodies, Autophagic vacuoles... ORPHA:399058
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Patent ductus ... OMIM:306955
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Macroglossia, Diastasis recti, Flexion contracture of finger, Camptodactyly, Flexion contracture,... ORPHA:254528
Pagod Syndrome
Spina bifida, Arrhythmia, Situs inversus totalis, Omphalocele, Abnormality of neuronal migration,... ORPHA:991
Iniencephaly
Spina bifida, Arthrogryposis multiplex congenita, Holoprosencephaly, Spinal dysraphism, Omphaloce... ORPHA:63259
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Atrial fibrillation, Aortic valve stenosis, Doub... OMIM:617912
Cardiomyopathy, Familial Hypertrophic, 18
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613874
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Ventricular septal defect, Omphalocele, Hypertension, Atrioventricular bloc... ORPHA:371428
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Muscular dystrophy, Cardiomyopathy OMIM:309930
Chromosome 9P Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Omphalocele, Heart mur... OMIM:158170
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy OMIM:615119
Megabladder, Congenital
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, P... OMIM:618719
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Myocardial fibrosis, Ventricular tachycardia, Left ventricular hypertrophy, Cardiom... OMIM:613873
Focal Dermal Hypoplasia
Camptodactyly of finger, Diastasis recti, Spina bifida, Abnormal dental enamel morphology, Ventri... ORPHA:2092
Myopathy, Myofibrillar, 1
EMG: myopathic abnormalities, Restrictive cardiomyopathy, Facial palsy, Third degree atrioventric... OMIM:601419
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Impairment), Type B, 1
Macroglossia, Congenital muscular dystrophy, Muscular dystrophy, Flexion contracture, Abnormal le... OMIM:613155
Miller-Dieker Lissencephaly Syndrome
Pachygyria, Abnormal heart morphology, Gray matter heterotopia, Camptodactyly, Omphalocele, Ingui... OMIM:247200
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Myopathy, Flexion contracture, Facial palsy, Cardiomyopathy OMIM:201470
Combined Oxidative Phosphorylation Deficiency 23
Cardiomyopathy, Arrhythmia, Congestive heart failure OMIM:616198
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Diastasis recti, Omphalocele OMIM:618419
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Fibrochondrogenesis 1
Stillbirth, Camptodactyly, Omphalocele, Joint contracture of the hand, Patent foramen ovale OMIM:228520
Cardiomyopathy, Familial Hypertrophic, 20
Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy OMIM:613876
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, EMG: myopathic abnormalities, Arrhythmia, Ventricular hypertrophy, Decreased muscle... ORPHA:263297
3Mc Syndrome 1
Conjunctival telangiectasia, Atrial septal defect, Ventricular septal defect, Patent ductus arter... OMIM:257920
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Abnormal heart valve morphology, Hypertension, Pulmonary embolism, Congestive heart f... ORPHA:1345
Vacterl/Vater Association
Abnormal cardiac septum morphology, Omphalocele, Congenital diaphragmatic hernia ORPHA:887
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, ... ORPHA:45453
Melnick-Needles Syndrome
Abnormal cardiac septum morphology, Omphalocele ORPHA:2484
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Congenital diaphragmatic hernia ORPHA:1834
Developmental And Epileptic Encephalopathy 35
Cardiomyopathy OMIM:616647
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Global systolic dysfunction, Nemaline bodies, Limb muscle weakness, Cardiomyopathy OMIM:606842
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Trisomy 18
Camptodactyly of finger, Spina bifida, Atrial septal defect, Ventricular septal defect, Holoprose... ORPHA:3380
Short-Rib Thoracic Dysplasia 12
Ventricular septal defect, Holoprosencephaly, Patent ductus arteriosus, Omphalocele, Anencephaly,... OMIM:269860
Myopathy, Myosin Storage, Autosomal Recessive
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotro... OMIM:255160
Mosaic Trisomy 1
Camptodactyly of finger, Ventricular septal defect, Omphalocele, Congenital diaphragmatic hernia,... ORPHA:1692
C Syndrome
Patent ductus arteriosus, Omphalocele, Ventricular septal defect OMIM:211750
Marshall-Smith Syndrome
Atrial septal defect, Patent ductus arteriosus, Omphalocele, Umbilical hernia, Hypertension, Macr... OMIM:602535
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Constricting Bands, Congenital
Ectopia cordis, Gastroschisis, Omphalocele, Bladder exstrophy OMIM:217100
Fetal Encasement Syndrome
Tetralogy of Fallot, Omphalocele, Congenital diaphragmatic hernia OMIM:613630
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy OMIM:614053
Amyloidosis, Finnish Type
Cardiac amyloidosis, Cardiomyopathy OMIM:105120
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia OMIM:612124
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscular dystrophy, Hypoglycosylation of alpha-dystroglycan, Cardiomyopathy OMIM:615352
Visceral Steatosis, Congenital
Hypocalcemia, Neonatal death, Myocardial steatosis, Hypoglycemia OMIM:228100
Neutral Lipid Storage Disease With Myopathy
Myopathy, Cardiomyopathy, Increased muscle lipid content OMIM:610717
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy ORPHA:254857
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Left ventricular noncompaction, Bicuspid aortic valve OMIM:613426
Congenital Disorder Of Glycosylation, Type Ik
Flexion contracture, Cardiomyopathy OMIM:608540
Myopathy, Myofibrillar, 4
EMG: myopathic abnormalities, Cardiomyopathy, Autophagic vacuoles, Myofibrillar myopathy, Muscle ... OMIM:609452
Autosomal Dominant Cutis Laxa
Abnormal heart valve morphology, Umbilical hernia, Pulmonic stenosis, Inguinal hernia, Hernia ORPHA:90348
Fryns Syndrome
Abnormal cardiac septum morphology, Tetralogy of Fallot, Omphalocele, Congenital diaphragmatic he... ORPHA:2059
Holoprosencephaly
Arrhythmia, Branchial anomaly, Ventricular septal defect, Holoprosencephaly, Spinal dysraphism, O... ORPHA:2162
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Abnormal heart valve morphology, Omphalocele, Abnormal cardiac septum mo... ORPHA:90652
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Congestive heart failure, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy OMIM:617222
Developmental And Epileptic Encephalopathy 89
Neonatal death, Flexion contracture, Omphalocele OMIM:619124
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Neoplasm of the heart, Omphalocele, Umbilical hernia ORPHA:2241
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Abnormal cardiac septum morphology, Inguinal hernia, Congenital diaphragmatic hernia OMIM:614294
Bladder Exstrophy
Inguinal hernia, Bladder exstrophy, Omphalocele, Umbilical hernia ORPHA:93930
Osteopathia Striata With Cranial Sclerosis
Atrial septal defect, Ventricular septal defect, Camptodactyly, Flexion contracture of toe, Paten... OMIM:300373
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Childhood-Onset Nemaline Myopathy
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Scapular winging, Increased mus... ORPHA:171439
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Triceps weakness, Type 1 muscle f... ORPHA:86812
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Prune belly, Omphalocele OMIM:601389
Hydrolethalus Syndrome 1
Agenesis of the diaphragm, Stillbirth, Ventricular septal defect, Gray matter heterotopia, Comple... OMIM:236680
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Omphalocele, Aqueductal stenosis ORPHA:3035
Short Chain Acyl-Coa Dehydrogenase Deficiency
Myopathy, Cardiomyopathy ORPHA:26792
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Holoprosencephaly, Omphalocele, Abnormality of neuronal migration, Overriding aorta, Tetralogy of... ORPHA:3186
Duchenne Muscular Dystrophy
Calf muscle hypertrophy, Flexion contracture, Cardiomyopathy, Skeletal muscle atrophy ORPHA:98896
Cardiomyopathy, Familial Hypertrophic, 13
ST segment depression, Atrial fibrillation, Hypertrophic cardiomyopathy, Biventricular hypertroph... OMIM:613243
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Neonatal death, Cardiomyopathy OMIM:619003
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomyopathy OMIM:602390
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Atrial flutter, Pericardial effusion, Atrial fibrillation, Congestive hea... OMIM:115200
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Ventricular septal defect, Camptodactyly, Patent ductus arteriosus, Omph... OMIM:616894
Beckwith-Wiedemann Syndrome
Diastasis recti, Macroglossia, Neonatal hypoglycemia, Omphalocele, Cardiomegaly, Cardiomyopathy OMIM:130650
Danon Disease
EMG: myopathic abnormalities, Arrhythmia, Myocardial necrosis, Myocardial fibrosis, Wolff-Parkins... OMIM:300257
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... OMIM:600858
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Macroglossia, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Hydrocephalu... OMIM:612938
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Pericardial effusion, Abn... ORPHA:300751
Colonic Atresia
Gastroschisis, Omphalocele ORPHA:1198
Lethal Omphalocele-Cleft Palate Syndrome
Omphalocele, Hydrocephalus ORPHA:2736
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Right bundle branch block, Pericardial effusion, Left bundle branch bloc... OMIM:115197
Hemochromatosis, Type 4
Arrhythmia, Cardiomyopathy OMIM:606069
Codas Syndrome
Enamel hypoplasia, Atrial septal defect, Ventricular septal defect, Omphalocele, Atrioventricular... OMIM:600373
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiomyopathy ORPHA:85447
Kennerknecht Syndrome
Omphalocele OMIM:600908
Sick Sinus Syndrome 2
Left ventricular noncompaction, Mitral valve prolapse, Left ventricular hypertrophy OMIM:163800
Holoprosencephaly-Postaxial Polydactyly Syndrome
Holoprosencephaly, Omphalocele, Umbilical hernia, Abnormal cardiac septum morphology, Hydrocephalus ORPHA:2166
Kagami-Ogata Syndrome
Diastasis recti, Inguinal hernia, Omphalocele ORPHA:254519
Glycogen Storage Disease Iii
Distal amyotrophy, Myopathy, Ventricular hypertrophy, Cardiomyopathy OMIM:232400
Greenberg Dysplasia
Stillbirth, Omphalocele, Neonatal death, Cardiomegaly, Abnormal circulating cholesterol concentra... OMIM:215140
Hurler-Scheie Syndrome
Abnormal heart valve morphology, Hernia, Cardiomyopathy ORPHA:93476
Fibrochondrogenesis
Camptodactyly of finger, Omphalocele ORPHA:2021
Simpson-Golabi-Behmel Syndrome
Camptodactyly of finger, Macroglossia, Atrial septal defect, Bundle branch block, Ventricular sep... ORPHA:373
Opitz Gbbb Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Omphalocele, Umbilica... ORPHA:2745
Specc1L-Related Hypertelorism Syndrome
Atrial septal defect, Arrhythmia, Ventricular septal defect, Patent ductus arteriosus, Omphalocel... ORPHA:1519
Propionic Acidemia
Arrhythmia, Cardiomyopathy ORPHA:35
Manitoba Oculotrichoanal Syndrome
Omphalocele OMIM:248450
Familial Cutaneous Collagenoma
Angina pectoris, Congestive heart failure, Cardiomyopathy, Atrial septal defect ORPHA:53296
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Pachygyria, Exencephaly, Abnormality of neuronal migration, Polymicrogyria, Abnormal cortical gyr... ORPHA:2211
Atrial Standstill 2
Palpitations, Atrial standstill, Atrial cardiomyopathy, Scarring, Atrial arrhythmia, Absent P wav... OMIM:615745
Hemochromatosis, Type 2B
Congestive heart failure, Cardiomyopathy OMIM:613313
Hec Syndrome
Endocardial fibroelastosis, Arrhythmia, Communicating hydrocephalus, Cardiomyopathy ORPHA:2119
Exstrophy-Epispadias Complex
Spina bifida, Abnormal heart morphology, Omphalocele, Cystocele, Inguinal hernia, Abdominal wall ... ORPHA:322
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Myopathy, Cardiomegaly, Cardiomyopathy OMIM:617713
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy ORPHA:67048
Muscular Dystrophy, Duchenne Type
Arrhythmia, Muscular dystrophy, Cardiomyopathy, Flexion contracture, Congestive heart failure, Ca... OMIM:310200
Cloacal Exstrophy
Spina bifida, Omphalocele, Bladder exstrophy, Myelomeningocele, Cloacal exstrophy ORPHA:93929
Naxos Disease
Arrhythmia, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricular tachycardia, C... ORPHA:34217
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced ejection fraction, Aortic regurgitation, Patent ductus arteriosus, Tricuspid regurgitatio... OMIM:616501
Adams-Oliver Syndrome 5
Umbilical hernia, Pulmonic stenosis, Right atrial enlargement, Inguinal hernia, Right ventricular... OMIM:616028
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Arrhythmia, Situs inversus totalis, Ventricular septal defect, Cardiomyopathy OMIM:249270
Beckwith-Wiedemann Syndrome
Macroglossia, Diastasis recti, Neonatal hypoglycemia, Elevated alpha-fetoprotein, Hypoglycemia, L... ORPHA:116
Nephronophthisis 16
Situs inversus totalis, Patent ductus arteriosus, Pulmonic stenosis, Aortic valve stenosis, Hyper... OMIM:615382
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Camptodactyly of toe, Marked muscular hypertrophy, Joint contracture of ... OMIM:300280
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... OMIM:613838
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Pulmonary valve atresia, Diastasis recti, Atrial septal defect, Parachute mitral valve, Ventricul... OMIM:265380
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven... OMIM:610193
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Atrial septal defect, Abnormal heart morphology, Camptodactyly, Patent ductus arteriosus, Left-to... ORPHA:363444
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Ventricular extrasystoles, Right ventricular cardiomyopathy OMIM:604401
Autosomal Recessive Progressive External Ophthalmoplegia
Hand muscle weakness, Scapular winging, Facial palsy, Myopathy, Ragged-red muscle fibers, Muscle ... ORPHA:254886
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Congenital Muscular Dystrophy With Cerebellar Involvement
Macroglossia, Type II lissencephaly, Gray matter heterotopia, Congenital muscular dystrophy, Skel... ORPHA:370959
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Abnormal atrioventricular conduction, Skeletal muscle atrophy, Limb muscle weakness, Weakness of ... ORPHA:329336
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... OMIM:607450
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Cardiac conduction abnormality, Single ventricle, Supraventricular... ORPHA:216694
Otopalatodigital Syndrome, Type I
Omphalocele OMIM:311300
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Atrial septal defect, Macroglossia, Diastasis recti, Ventricular se... ORPHA:96334
Combined Immunodeficiency-Enteropathy Spectrum
Type I diabetes mellitus, Omphalocele, Ventricular septal defect ORPHA:436252
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Ventricul... OMIM:208530
Neuraminidase Deficiency
Inguinal hernia, Cardiomegaly, Cardiomyopathy, Skeletal muscle atrophy OMIM:256550
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Arrhythmia, Hypertension ORPHA:3222
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy OMIM:520000
Fryns Syndrome
Atrial septal defect, Stillbirth, Ventricular septal defect, Aplasia of the left hemidiaphragm, C... OMIM:229850
Sandestig-Stefanova Syndrome
Perimembranous ventricular septal defect, Camptodactyly, Muscular ventricular septal defect OMIM:618804
Otopalatodigital Syndrome, Type Ii
Omphalocele, Hydrocephalus, Stillbirth OMIM:304120
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Myopathy, Flexion contracture, Nemaline bodies, Cardiomyopathy OMIM:616549
Bartsocas-Papas Syndrome 1
Arthrogryposis multiplex congenita, Flexion contracture, Omphalocele, Inguinal hernia, Inferiorly... OMIM:263650
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Pelvic girdle muscle weakness, Calf muscle hypertrophy, Myopathy, Cardiomyopathy, Increased varia... ORPHA:119
Holoprosencephaly 7
Semilobar holoprosencephaly, Omphalocele, Hydrocephalus, Alobar holoprosencephaly OMIM:610828
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
EMG: myopathic abnormalities, Ragged-red muscle fibers, Generalized amyotrophy, Facial palsy, Mus... OMIM:258450
Peroxisome Biogenesis Disorder 9B
Cardiomyopathy OMIM:614879
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Ventricular arrhythmia, Palpitations, Dilatation of the ventricular cavity, Sudden cardiac death,... OMIM:609040
Melnick-Needles Syndrome
Mitral valve prolapse, Stillbirth, Omphalocele, Tricuspid valve prolapse OMIM:309350
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Stillbirth, Pulmonic stenosis, Aortic valve stenosis,... OMIM:615415
Meckel Syndrome, Type 1
Large placenta, Patent ductus arteriosus, Omphalocele, Anencephaly, Abnormal cardiac septum morph... OMIM:249000
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele ORPHA:3329
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Esophageal Atresia
Tetralogy of Fallot, Maternal diabetes, Omphalocele, Ventricular septal defect ORPHA:1199
Mucopolysaccharidosis, Type Vii
Abnormal heart valve morphology, Flexion contracture, Umbilical hernia, Inguinal hernia, Hydrocep... OMIM:253220
Craniosynostosis-Mental Retardation Syndrome Of Lin And Gettig
Ventricular septal defect, Camptodactyly, Omphalocele, Umbilical hernia, Inguinal hernia, Multipl... OMIM:218649
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Dilated Cardiomyopathy With Ataxia
Diaphragmatic eventration, Generalized amyotrophy, Muscular ventricular septal defect, Prolonged ... ORPHA:66634
Hurler Syndrome
Aortic regurgitation, Endocardial fibroelastosis, Flexion contracture, Umbilical hernia, Inguinal... OMIM:607014
Okamoto Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal heart morphology, Omphaloce... ORPHA:2729
Refsum Disease, Classic
Arrhythmia, Congestive heart failure, Cardiomegaly, Limb muscle weakness, Cardiomyopathy OMIM:266500
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Secundum atrial septal defect, Flexi... OMIM:616866
Mcleod Syndrome
Rhabdomyolysis, Atrial fibrillation, Dilated cardiomyopathy, Myopathy, Cardiomyopathy OMIM:300842
Hemochromatosis, Type 3
Cardiomyopathy OMIM:604250
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Congestive heart failure, Generalized amyotrophy, Rimmed vacuoles, ... ORPHA:52430
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Patent ductus arteriosus, Omphalocele OMIM:616300
Cyclic Vomiting Syndrome
Cardiomyopathy OMIM:500007
Mucopolysaccharidosis, Type Vi
Macroglossia, Abnormal heart valve morphology, Umbilical hernia, Inguinal hernia, Hydrocephalus, ... OMIM:253200
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortened PR inte... OMIM:261740
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Abnormal left ventricular function, Atrial fibrillation, Tricuspid r... ORPHA:75249
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2
Ventricular arrhythmia, Effort-induced polymorphic ventricular tachycardia, Right ventricular car... OMIM:600996
Focal Dermal Hypoplasia
Enamel hypoplasia, Hiatus hernia, Diastasis recti, Hydrocephalus, Omphalocele, Umbilical hernia, ... OMIM:305600
Meckel Syndrome, Type 7
Atrial septal defect, Situs inversus totalis, Aortic valve stenosis, Inguinal hernia, Right ventr... OMIM:267010
Polyarteritis Nodosa
Raynaud phenomenon, Hypertension, Pericarditis, Cardiomyopathy ORPHA:767
Carnitine Palmitoyltransferase Ii Deficiency
Arrhythmia, Pachygyria, Renal tubular epithelial necrosis, Rhabdomyolysis, Abnormality of neurona... ORPHA:157
Genitourinary And/Or Brain Malformation Syndrome
Holoprosencephaly, Polymicrogyria, Omphalocele, Gray matter heterotopia OMIM:618820
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Arrhythmia, Limb muscle weakness, Ragged-red muscle fibers, Bradyca... OMIM:609286
Collagenoma, Familial Cutaneous
Atrial fibrillation, Tricuspid regurgitation, Congestive heart failure, Vasculitis, Right ventric... OMIM:115250
Charge Syndrome
Atrial septal defect, Ventricular septal defect, Arrhinencephaly, Holoprosencephaly, Patent ductu... OMIM:214800
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect, Spina bifida occulta OMIM:619227
Autosomal Dominant Optic Atrophy Plus Syndrome
Myopathy, Limb-girdle muscle weakness, Cardiomyopathy ORPHA:1215
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Ventricular extrasystoles, Rhabdomyolysis, Ventricular tach... OMIM:212138
Pituitary Adenoma 1, Multiple Types
Cardiomyopathy, Left ventricular hypertrophy, Hypertension OMIM:102200
Glycogen Storage Disease Iv
Portal hypertension, Arthrogryposis multiplex congenita, Cardiomyopathy, Skeletal muscle atrophy OMIM:232500
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Arrhythmia, Pachygyria, Renal tubular epithelial necrosis, Abnormality of neuronal migration, Pol... ORPHA:228308
Hemochromatosis, Type 1
Arrhythmia, Congestive heart failure, Cardiomegaly, Telangiectasia, Cardiomyopathy OMIM:235200
Pyruvate Dehydrogenase E3 Deficiency
Abnormal cardiac ventricular function, Cardiomyopathy ORPHA:2394
Primary Lipodystrophy
Angina pectoris, Skeletal muscle hypertrophy, Lipoatrophy, Lipodystrophy, Hypertension, Congestiv... ORPHA:90970
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy OMIM:600721
Ablepharon Macrostomia Syndrome
Camptodactyly of finger, Omphalocele, Umbilical hernia ORPHA:920
Infantile Refsum Disease
Arrhythmia, Facial palsy, Cardiomyopathy ORPHA:772
Gm1 Gangliosidosis
Camptodactyly of finger, Macroglossia, Abnormal heart morphology, Ventricular septal defect, Pate... ORPHA:354
Oeis Complex
Omphalocele, Bladder exstrophy, Myelomeningocele, Cloacal exstrophy, Hydrocephalus OMIM:258040
Cardiac Valvular Defect, Developmental
Tricuspid atresia, Tricuspid regurgitation, Inguinal hernia, Mitral stenosis, Tricuspid valve pro... OMIM:212093
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Truncus arteriosus, Atrial septal defect, Hyperglycemia, Ventricular... OMIM:600001
C Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Omphalocele, Congenital diaphragmatic hernia ORPHA:1308
Multiple Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Scapular winging, Increased intramyocellular lipid droplets, Abnormal heart morpholog... ORPHA:26791
Mucolipidosis Type Ii
Diastasis recti, Aortic regurgitation, Abnormal mitral valve morphology, Pulmonary insufficiency,... ORPHA:576
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Arrhythmia, Ventricular hypertrophy, Rhabdomyolysis, Myopathy, Cardiomyopathy ORPHA:228305
Acrocephalopolydactylous Dysplasia
Omphalocele OMIM:200995
Combined Oxidative Phosphorylation Deficiency 11
Myopathy, Pachygyria, Cardiomyopathy OMIM:614922
American Trypanosomiasis
Arrhythmia, Congestive heart failure, Cardiomyopathy, Myocarditis ORPHA:3386
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy ORPHA:79312
Combined Oxidative Phosphorylation Deficiency 42
Neonatal death, Cardiomyopathy OMIM:618839
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Cardiomyopathy OMIM:619046
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy OMIM:105210
Heart Block, Congenital
Cardiomyopathy, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular node OMIM:234700
Developmental And Epileptic Encephalopathy 75
Cardiomyopathy OMIM:618437
Mitochondrial Trifunctional Protein Deficiency
Arrhythmia, Lower limb muscle weakness, Rhabdomyolysis, Tricuspid regurgitation, Skeletal myopath... ORPHA:746
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy ORPHA:27
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiomegaly, Cardiogenic ... ORPHA:75565
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Reduced ejection fraction, Arrhythmia, Macroglossia, Pachygyria, Lissencephaly, Increased connect... ORPHA:258
Vici Syndrome
Cardiomyopathy, Gray matter heterotopia ORPHA:1493
Pallister-Killian Syndrome
Macroglossia, Atrial septal defect, Stillbirth, Ventricular septal defect, Flexion contracture, P... OMIM:601803
Noonan Syndrome 2
Arthrogryposis multiplex congenita, Atrial septal defect, Ventricular septal defect, Patent ductu... OMIM:605275
Infantile Liver Failure Syndrome 2
Cardiomyopathy OMIM:616483
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Cardiomyopathy OMIM:251000
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Lower limb muscle weakness, Proximal muscle weakness in upper limbs, Distal lower limb muscle wea... ORPHA:363623
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Arrhythmia, Third degree atrioventricular block, Cardiomyopathy OMIM:530000
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Camptodactyly of finger, Abnormal dental enamel morphology, Inguinal hernia, Omphalocele ORPHA:2273
Refsum Disease
Skeletal muscle atrophy, Cardiomyopathy, Heart block ORPHA:773
Triglyceride Deposit Cardiomyovasculopathy
Palpitations, Abnormality of the shoulder girdle musculature, Arrhythmia, Coronary artery stenosi... ORPHA:565612
Vici Syndrome
Gray matter heterotopia, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomy... OMIM:242840
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Arrhythmia, Ventricular septal defect, Congenital diaphragmatic hernia, Ove... OMIM:309801
Hurler Syndrome
Camptodactyly of finger, Macroglossia, Angina pectoris, Abnormal heart valve morphology, Endocard... ORPHA:93473
Symptomatic Form Of Hemochromatosis Type 1
Arrhythmia, Decreased muscle mass, Elevated jugular venous pressure, Congestive heart failure, Ca... ORPHA:465508
Fraser Syndrome
Myelomeningocele, Omphalocele, Umbilical hernia ORPHA:2052
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Muscular ventricular septal defect, Intrinsic hand muscle atrophy OMIM:618569
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Limb hypertonia, Cardiomyopathy, Skeletal muscle atrophy OMIM:617710
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Abnormal cardiac septum morphology, Patent ductus arteriosus, Cardiomyopathy, Hernia OMIM:217980
Acquired Generalized Lipodystrophy
Panniculitis, Abnormal cardiovascular system physiology, Hypertension, Calf muscle pseudohypertro... ORPHA:79086
Cushing Disease
Lipodystrophy, Hypertension, Telangiectasia of the skin, Myopathy, Cardiomyopathy ORPHA:96253
Mucopolysaccharidosis Type 2
Macroglossia, Arrhythmia, Abnormal tricuspid valve morphology, Abnormal heart valve morphology, A... ORPHA:580
Propionic Acidemia
Limb hypertonia, Cerebellar hemorrhage, Cardiomyopathy OMIM:606054
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Congestive heart failure, Limb muscle weakness, Cardiomegaly, Cardiomyopathy OMIM:619259
Lethal Acantholytic Erosive Disorder
Camptodactyly of toe, Impaired myocardial contractility, Cardiomegaly, Hypovolemic shock, Cardiom... ORPHA:158687
Congenital Enterovirus Infection
Hypotension, Pericardial effusion, Cardiomyopathy, Myocarditis ORPHA:292
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Punctate vasculitis skin lesions, Gastrointestinal hemorrhage, Cardiomyopathy, Hypertension, Reti... ORPHA:247691
Carnitine-Acylcarnitine Translocase Deficiency
Arrhythmia, Hypotension, Rhabdomyolysis, Ventricular tachycardia, Cardiomyopathy ORPHA:159
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Abnormal heart morphology, Rhabdomyolysis, Increased sarcoplasmic glycogen, Ventricular septal hy... ORPHA:370
Omphalocele Syndrome, Shprintzen-Goldberg Type
Omphalocele ORPHA:3164
Juvenile Dermatomyositis
Arrhythmia, Bundle branch block, Pericarditis, Gastrointestinal hemorrhage, Angina pectoris, Tela... ORPHA:93672
Penoscrotal Transposition
Cardiomyopathy ORPHA:2842
Zimmermann-Laband Syndrome 1
Umbilical hernia, Patent ductus arteriosus, Cardiomyopathy, Spina bifida occulta OMIM:135500
Hermansky-Pudlak Syndrome 1
Epistaxis, Cardiomyopathy, Hematochezia OMIM:203300
Shprintzen Omphalocele Syndrome
Omphalocele OMIM:182210
Feingold Syndrome Type 1
Tricuspid atresia, Abnormal heart morphology, Patent ductus arteriosus, Tricuspid stenosis, Multi... ORPHA:391641
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Cardiomyopathy OMIM:616084
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Cardiomyopathy OMIM:618321
Martsolf Syndrome 1
Congestive heart failure, Cardiac arrest, Cardiomyopathy OMIM:212720
Wolfram Syndrome 1
Cardiomyopathy OMIM:222300
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Endocardial fibroelastosis, Mitral regurgitation, Cardiomyopathy OMIM:226100
Melas
Dilated cardiomyopathy, Cardiac conduction abnormality, Wolff-Parkinson-White syndrome, Ragged-re... ORPHA:550
Mucopolysaccharidosis Type 2, Severe Form
Camptodactyly of finger, Macroglossia, Arrhythmia, Abnormal tricuspid valve morphology, Abnormal ... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Camptodactyly of finger, Macroglossia, Arrhythmia, Abnormal tricuspid valve morphology, Abnormal ... ORPHA:217093
Lipodystrophy, Congenital Generalized, Type 1
Reduced intraabdominal adipose tissue, Lipodystrophy, Umbilical hernia, Generalized muscular appe... OMIM:608594
Aicardi-Goutieres Syndrome 1
Cardiomyopathy OMIM:225750
Neutral Lipid Storage Disease With Ichthyosis
EMG: myopathic abnormalities, Increased intramyocellular lipid droplets, Shoulder girdle muscle w... ORPHA:98907
Cartilage-Hair Hypoplasia
Spinal dysraphism, Heart block, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal ca... ORPHA:175
Trichothiodystrophy
Enamel hypoplasia, Ventricular septal defect, Absence of subcutaneous fat, Umbilical hernia, Mult... ORPHA:33364
Congenital Disorder Of Glycosylation, Type Ia
Pericardial effusion, Flexion contracture, Abnormal subcutaneous fat tissue distribution, Cardiom... OMIM:212065
Neutral Lipid Storage Myopathy
Fatty replacement of skeletal muscle, Hand muscle weakness, Increased intramyocellular lipid drop... ORPHA:98908
Homozygous Familial Hypercholesterolemia
Hypercholesterolemia, Myocardial steatosis, Tendon xanthomatosis, Increased LDL cholesterol conce... ORPHA:391665
S-Adenosylhomocysteine Hydrolase Deficiency
Muscular dystrophy, Cardiomyopathy ORPHA:88618
Rabson-Mendenhall Syndrome
Macroglossia, Atrial septal defect, Ventricular septal defect, Reduced subcutaneous adipose tissu... ORPHA:769
Wars2-Related Combined Oxidative Phosphorylation Defect
Limb hypertonia, Generalized amyotrophy, Cardiomyopathy ORPHA:572798
3-Methylglutaconic Aciduria Type 7
Cardiomyopathy ORPHA:445038
Agel Amyloidosis
Facial palsy, Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy ORPHA:85448
Friedreich Ataxia
Hand muscle atrophy, Cardiomyopathy ORPHA:95
Yunis-Varon Syndrome
Pachygyria, Ventricular septal defect, Arrhinencephaly, Pulmonary arterial hypertension, Tetralog... OMIM:216340
Gm1 Gangliosidosis Type 1
Abnormality of odontoid tissue, Macroglossia, Cardiomyopathy ORPHA:79255
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Increased sarcoplasmic glycogen, Cardiomyopathy, Skeletal muscle atrophy ORPHA:264580
Simpson-Golabi-Behmel Syndrome, Type 1
Macroglossia, Arrhythmia, Diastasis recti, Ventricular septal defect, Patent ductus arteriosus, U... OMIM:312870
Von Hippel-Lindau Disease
Palpitations, Arrhythmia, Abnormal left ventricular function, Hypertension, Myocardial infarction... ORPHA:892
Koolen-De Vries Syndrome Due To A Point Mutation
Spina bifida, Atrial septal defect, Intraventricular hemorrhage, Abnormal heart morphology, Ventr... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Spina bifida, Atrial septal defect, Intraventricular hemorrhage, Abnormal heart morphology, Ventr... ORPHA:363958
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Abnormal dental enamel morphology, Epistaxis, Cardiomyopathy ORPHA:79430
Primary Hyperoxaluria
Intermittent claudication, Cardiomyopathy, Arterial occlusion, Heart block, Raynaud phenomenon ORPHA:416
Alternating Hemiplegia Of Childhood
Arrhythmia, Facial hypotonia, Cardiac conduction abnormality, Abnormal T-wave, Cardiomyopathy ORPHA:2131
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Omphalocele ORPHA:93271
Yunis-Varon Syndrome
Atrial septal defect, Pachygyria, Ventricular septal defect, Renovascular hypertension, Arrhinenc... ORPHA:3472
Wolfram Syndrome
Myopathy, Gastrointestinal hemorrhage, Cardiomyopathy ORPHA:3463
Cockayne Syndrome Type 3
Enamel hypoplasia, Subdural hemorrhage, Flexion contracture, Increased blood pressure, Skeletal m... ORPHA:90324
Pearson Syndrome
Cardiac conduction abnormality, Cardiomyopathy, Abnormal heart morphology ORPHA:699
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Atrial septal defect, Patent ductus arteriosus, Abnormal cortical gyration, Abnormality of the ab... ORPHA:480880
Essential Thrombocythemia
Myocardial infarction, Transient ischemic attack ORPHA:3318
Primary Myelofibrosis
Portal hypertension ORPHA:824
Myelofibrosis
OMIM:254450
Thrombocythemia 1
OMIM:187950

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 Calr

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 Calr.

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

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