banner
Genes Phenotypes Help, News, Blog

Gene: Calr MGI:88252

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
calreticulin
Synonyms:
Calregulin,  CRT

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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
Transient ischemic attack, Myocardial infarction ORPHA:3318
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Portal hypertension ORPHA:131
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
Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy ORPHA:3283
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Cardiomyocyte mitochondrial proliferation, Hypertrophic cardiomyopathy OMIM:616500
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Dilated cardiomyopathy, Interosseus muscle atrophy, Inguinal hernia, Distal lower limb muscle wea... OMIM:619903
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Acalvaria
Abnormality of neuronal migration, Spina bifida, Hydrocephalus, Omphalocele, Holoprosencephaly ORPHA:945
Fetal Encasement Syndrome
Tetralogy of Fallot, Congenital diaphragmatic hernia, Omphalocele OMIM:613630
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy, Sudden cardiac death OMIM:115196
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Proximal muscle weakness in lower limbs, Finger flexor weakness, Hip flexor weakness, Cardiomyopa... ORPHA:63273
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Umbilical hernia, Abnormal heart morphology, Hyperglycemia, Inguin... OMIM:175700
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Umbilical hernia, Abnormal heart morphology, Diastasis recti, Ventricular septal defect, Omphalocele ORPHA:254534
Omphalocele-Cleft Palate Syndrome, Lethal
Hydrocephalus, Omphalocele OMIM:258320
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:613642
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Cardiomyopathy, Familial Hypertrophic, 15
Apical hypertrophic cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic... OMIM:613255
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Omphalocele ORPHA:2141
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Holoprosencephaly, Anterior encephalocele, Omphalocele, Ventricular septal defect OMIM:601357
Omphalocele
Omphalocele ORPHA:660
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopa... OMIM:612158
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy, Endocardial... OMIM:601493
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:615396
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Congenital diaphragmatic hernia, Omphalocele, Abnormality of the diaphragm OMIM:601163
Hypothyroidism, Congenital, Nongoitrous, 4
Macroglossia, Omphalocele, Umbilical hernia OMIM:275100
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
Donnai-Barrow Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Omphalocele, Umbilical hernia ORPHA:2143
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Schisis Association
Encephalocele, Congenital diaphragmatic hernia, Spina bifida, Omphalocele, Anencephaly ORPHA:63862
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Myopathy, Distal, 4
Skeletal muscle atrophy, Cardiomyopathy, Thenar muscle weakness, Distal lower limb amyotrophy, Di... OMIM:614065
Isolated Anencephaly
Maternal diabetes, Congenital diaphragmatic hernia, Omphalocele ORPHA:563609
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P... ORPHA:1686
Distal Duplication 15Q
Congenital muscular torticollis, Omphalocele, Camptodactyly of finger ORPHA:1707
Cardiomyopathy, Familial Hypertrophic, 28
Apical hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Concentric hype... OMIM:619402
Boomerang Dysplasia
Aplasia/Hypoplasia of the abdominal wall musculature, Omphalocele ORPHA:1263
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Dilated cardiomyopathy OMIM:615373
Omphalocele, X-Linked
Omphalocele OMIM:310980
Omphalocele, Autosomal
Omphalocele OMIM:164750
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Omphalocele OMIM:614450
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Ventricular septal defect ORPHA:93267
Miller-Dieker Syndrome
Lissencephaly, Omphalocele ORPHA:531
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Ankle flexion contracture, Increased variability in muscle fiber diameter, Dilated cardiomyopathy... OMIM:608099
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Joint contracture of the hand, Small hypothenar eminence, Inguinal hernia, Mitral valve prolapse,... OMIM:211960
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Ventral hernia, Transposition of the great arteries, Hydrocephal... OMIM:313850
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom... OMIM:611556
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Reduced left ventricular ejec... OMIM:619371
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Ventricular septal defect, Overriding aorta, Atrial septal defect, Omphalocele, P... OMIM:601927
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal heart morphology, Flexion contracture, Congenital diaphragmatic hernia, Omphalocele OMIM:263210
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Leg muscle stiffness, Cardiomyopathy, Foot dorsiflexor w... ORPHA:98912
Non-Syndromic Metopic Craniosynostosis
Omphalocele ORPHA:3366
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Distal lower limb muscle weakness, Leg muscle stiffness, Cardiomyopathy, Supraventricular arrhythmia ORPHA:320360
Lethal Congenital Contracture Syndrome 10
Increased variability in muscle fiber diameter, Ventricular septal defect, Cardiomegaly, Overridi... OMIM:617022
Pentalogy Of Cantrell
Tetralogy of Fallot, Abnormal pericardium morphology, Congenital diaphragmatic hernia, Encephaloc... ORPHA:1335
Pseudodiastrophic Dysplasia
Omphalocele ORPHA:85174
Caudal Duplication
Myelomeningocele, Spina bifida, Omphalocele ORPHA:1756
Distal Nebulin Myopathy
Nemaline bodies, Ankle flexion contracture, Sternocleidomastoid amyotrophy, Cardiomyopathy, Foot ... ORPHA:399103
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Dou... OMIM:618316
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Sudden cardiac... OMIM:115210
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Congenital diaphragmatic... ORPHA:63260
Kagami-Ogata Syndrome
Diastasis recti, Inguinal hernia, Ventricular septal defect, Atrial septal defect, Omphalocele, F... OMIM:608149
Fetal Valproate Spectrum Disorder
Omphalocele ORPHA:1906
Cardiomyopathy, Dilated, 2H
Muscular ventricular septal defect, Reduced left ventricular ejection fraction, Secundum atrial s... OMIM:620203
Myopathy, Distal, 7, Adult-Onset, X-Linked
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:301075
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, Cardiomyopathy, EMG: myopathic abnormalities, Weakness o... ORPHA:171445
Triploidy
Hydrocephalus, Abnormal cardiac septum morphology, Omphalocele, Macroglossia, Meningocele, Holopr... ORPHA:3376
Pseudotrisomy 13 Syndrome
Polymicrogyria, Complete atrioventricular canal defect, Encephalocele, Ventricular septal defect,... OMIM:264480
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy OMIM:609016
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, Cardiomyopathy, Tibialis anterior muscle atrophy, Tibialis m... OMIM:600334
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Wolff-P... OMIM:613690
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... OMIM:615248
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular esc... OMIM:108770
Distal Myotilinopathy
Distal amyotrophy, Cardiomyopathy, Multiple joint contractures, Abnormal muscle fiber myotilin, E... ORPHA:98911
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
Meckel Syndrome, Type 2
Meningocele, Anencephaly, Encephalocele, Omphalocele OMIM:603194
Muscular Dystrophy, Becker Type
Muscular dystrophy, Cardiomyopathy, Abnormal EKG, Arrhythmia, Calf muscle pseudohypertrophy OMIM:300376
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Muscular... OMIM:619566
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect, Spina bifida, Anencephaly, Gastroschisis ORPHA:2476
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyo... OMIM:115197
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... OMIM:608751
Carpenter Syndrome 1
Joint contracture of the hand, Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect, ... OMIM:201000
Trisomy 1Q
Camptodactyly of finger, Congenital diaphragmatic hernia, Ventricular septal defect, Hydrocephalu... ORPHA:261344
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Aqueductal steno... OMIM:306955
Donnai-Barrow Syndrome
Umbilical hernia, Congenital diaphragmatic hernia, Ventricular septal defect, Omphalocele, Diaphr... OMIM:222448
Giant Axonal Neuropathy 2, Autosomal Dominant
Distal amyotrophy, Cardiomyopathy OMIM:610100
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Fatty replacement of skeletal muscle, Myopathy, Supraventricular tachycardia, Cardiomyopathy OMIM:255100
Myopathy, Myofibrillar, 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... OMIM:609200
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia, Omphalocele ORPHA:95706
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Cardiomyopathy OMIM:619647
Cardiomyopathy, Familial Hypertrophic, 21
Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop... OMIM:614676
Pagod Syndrome
Hypoplastic left heart, Situs inversus totalis, Congenital diaphragmatic hernia, Encephalocele, A... ORPHA:991
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Card... OMIM:608807
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Cardiomyopathy, Limb-girdle muscle weakness, Calf muscle hypertrophy, Hypogly... OMIM:609308
Iniencephaly
Spinal dysraphism, Myelomeningocele, Congenital diaphragmatic hernia, Gastroschisis, Encephalocel... ORPHA:63259
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Omphalocele, Ventricular septal defect OMIM:617895
Congenital Myopathy 21 With Early Respiratory Failure
Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, Inguinal hernia,... OMIM:620326
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... ORPHA:75566
Robinow Syndrome, Autosomal Recessive 2
Camptodactyly, Ventral hernia, Bicuspid aortic valve, Omphalocele OMIM:618529
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Left ventricular hypertr... OMIM:613876
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Cardiomyopathy OMIM:619651
Cardiomyopathy, Familial Hypertrophic, 12
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Vent... OMIM:612124
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Type I diabetes mellitus, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve... ORPHA:371428
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Umbilical hernia, Diastasis recti, Inguinal hernia, Wrist flexion contracture, Flexion contractur... ORPHA:254528
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... ORPHA:399058
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Focal Dermal Hypoplasia
Camptodactyly of finger, Umbilical hernia, Abnormal dental enamel morphology, Diastasis recti, In... ORPHA:2092
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... OMIM:613838
Constricting Bands, Congenital
Encephalocele, Omphalocele, Ectopia cordis, Bladder exstrophy, Gastroschisis OMIM:217100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Muscular dystrophy, Abnormal left ventricular function, Cardiomyopathy, Calf muscle hypertrophy, ... OMIM:613155
Chromosome 9P Deletion Syndrome
Inguinal hernia, Ventricular septal defect, Perimembranous ventricular septal defect, Atrial sept... OMIM:158170
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff... ORPHA:3282
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:612999
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy OMIM:192605
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... OMIM:618052
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Trigonocephaly 1
Omphalocele OMIM:190440
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Miller-Dieker Lissencephaly Syndrome
Joint contracture of the hand, Pachygyria, Abnormal heart morphology, Inguinal hernia, Abnormalit... OMIM:247200
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Cardiomyocyte hypertr... ORPHA:263297
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Cardiomyopathy, Abnormal EKG OMIM:309930
Vacterl/Vater Association
Occipital encephalocele, Congenital diaphragmatic hernia, Abnormal cardiac septum morphology, Omp... ORPHA:887
Short-Rib Thoracic Dysplasia 12
Inguinal hernia, Patent foramen ovale, Ventricular septal defect, Neonatal death, Hydrocephalus, ... OMIM:269860
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Omphalocele, Ventricular septal defect OMIM:145420
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Cardiomyopathy, Familial Hypertrophic, 18
Hypertrophic cardiomyopathy, Atrial fibrillation, Paroxysmal atrial fibrillation, Left ventricula... OMIM:613874
Danon Disease
Skeletal muscle autophagosome accumulation, Myocardial necrosis, Dilated cardiomyopathy, Generali... OMIM:300257
Cardiomyopathy, Dilated, 1D
Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy, Increased c... OMIM:601494
Fibrochondrogenesis 1
Joint contracture of the hand, Patent foramen ovale, Omphalocele, Stillbirth, Camptodactyly OMIM:228520
Congenital Myopathy 24
Nemaline bodies, Cardiomyopathy, Type 1 muscle fiber predominance, First degree atrioventricular ... OMIM:617336
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Joubert Syndrome 15
Exencephaly OMIM:614464
Developmental Delay With Or Without Dysmorphic Facies And Autism
Umbilical hernia, Polymicrogyria, Inguinal hernia, Congenital diaphragmatic hernia, Ventricular s... OMIM:618454
Developmental And Epileptic Encephalopathy 35
Cardiomyopathy OMIM:616647
Melnick-Needles Syndrome
Abnormal cardiac septum morphology, Omphalocele ORPHA:2484
Chromosome 10Q26 Deletion Syndrome
Scapular winging, Atrial septal defect, Omphalocele OMIM:609625
3Mc Syndrome 1
Diastasis recti, Ventricular septal defect, Conjunctival telangiectasia, Abnormality of the abdom... OMIM:257920
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Omphalocele ORPHA:1834
Trisomy 18
Camptodactyly of finger, Congenital diaphragmatic hernia, Ventricular septal defect, Hernia, Atri... ORPHA:3380
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Global systolic dysfunction, Limb muscle weakness, Cardiomyopathy OMIM:606842
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Muscular dystrophy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Cardiom... OMIM:615352
Houge-Janssens Syndrome 3
Muscular ventricular septal defect, Atrial septal defect, Inguinal hernia, Umbilical hernia OMIM:618354
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Biventricular hypertrophy,... OMIM:619424
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Cardiomyopathy OMIM:615119
Mosaic Trisomy 1
Camptodactyly of finger, Elbow flexion contracture, Congenital diaphragmatic hernia, Ventricular ... ORPHA:1692
C Syndrome
Patent ductus arteriosus, Omphalocele, Ventricular septal defect OMIM:211750
Fryns Syndrome
Tetralogy of Fallot, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Omphalo... ORPHA:2059
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Abnormal heart valve morphology, Myelomeningocele, Encephalocele, Hydroc... ORPHA:90652
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Prune belly, Omphalocele OMIM:601389
Congenital Disorder Of Glycosylation, Type Ik
Flexion contracture, Cardiomyopathy, Joint contracture OMIM:608540
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Enamel hypoplasia, Omphalocele, Ventricular septal defect OMIM:243150
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Neoplasm of the heart, Omphalocele, Umbilical hernia ORPHA:2241
Holoprosencephaly
Spinal dysraphism, Tetralogy of Fallot, Abnormal pulmonary valve morphology, Congenital diaphragm... ORPHA:2162
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Holoprosencephaly-Postaxial Polydactyly Syndrome
Umbilical hernia, Encephalocele, Hydrocephalus, Abnormal cardiac septum morphology, Omphalocele, ... ORPHA:2166
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Developmental And Epileptic Encephalopathy 89
Flexion contracture, Omphalocele, Neonatal death OMIM:619124
Myopathy, Myofibrillar, 4
Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle fiber splitting, Auto... OMIM:609452
Bladder Exstrophy
Inguinal hernia, Bladder exstrophy, Omphalocele, Umbilical hernia ORPHA:93930
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy ORPHA:254857
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Aqueductal stenosis, Omphalocele ORPHA:3035
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Cardiomyopathy, Neonatal death OMIM:619003
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Cardiomyopathy, Generalized limb... ORPHA:171439
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Opitz Gbbb Syndrome
Umbilical hernia, Abnormal heart morphology, Inguinal hernia, Congenital diaphragmatic hernia, Ve... ORPHA:2745
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypoplastic left heart, Parachute mitral valve, Tetralogy of Fallot, Atrioventricular canal defec... OMIM:265380
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Cardiac Valvular Dysplasia 1
Valvular pulmonary stenosis, Tricuspid stenosis, Tricuspid regurgitation, Muscular ventricular se... OMIM:212093
Beckwith-Wiedemann Syndrome
Cardiomyopathy, Diastasis recti, Cardiomegaly, Omphalocele, Macroglossia, Neonatal hypoglycemia OMIM:130650
Duchenne Muscular Dystrophy
Flexion contracture, Skeletal muscle atrophy, Cardiomyopathy, Calf muscle hypertrophy ORPHA:98896
Osteopathia Striata With Cranial Sclerosis
Joint contracture of the hand, Ventricular septal defect, Atrial septal defect, Omphalocele, Hydr... OMIM:300373
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Complete atrioventricular canal defect, Ventricular septal defect, Ag... OMIM:236680
Alg9-Cdg
Hypoplasia of the musculature, Abnormal heart morphology, Ventricular septal defect, Abnormal lef... ORPHA:79328
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia ORPHA:85447
Colonic Atresia
Gastroschisis, Omphalocele ORPHA:1198
Robinow Syndrome, Autosomal Dominant 3
Tricuspid regurgitation, Patent foramen ovale, Ventricular septal defect, Omphalocele, Camptodact... OMIM:616894
Hemochromatosis, Type 2A
Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure OMIM:602390
Short Chain Acyl-Coa Dehydrogenase Deficiency
Myopathy, Cardiomyopathy ORPHA:26792
Marshall-Smith Syndrome
Umbilical hernia, Ventricular septal defect, Premature ventricular contraction, Pulmonary arteria... OMIM:602535
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric... OMIM:613873
Glycogen Storage Disease Iii
Ventricular hypertrophy, Distal amyotrophy, Myopathy, Cardiomyopathy OMIM:232400
Auriculocondylar Syndrome 2B
Omphalocele OMIM:620458
Congenital Muscular Dystrophy With Cerebellar Involvement
Muscular dystrophy, Occipital encephalocele, Cardiomyopathy, Polymicrogyria, Type II lissencephal... ORPHA:370959
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Ventricular septal hyper... OMIM:115195
Cloacal Exstrophy
Myelomeningocele, Cloacal exstrophy, Spina bifida, Omphalocele, Bladder exstrophy ORPHA:93929
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter... ORPHA:300751
Hurler-Scheie Syndrome
Hernia, Abnormal heart valve morphology, Cardiomyopathy ORPHA:93476
Propionic Acidemia
Arrhythmia, Cardiomyopathy ORPHA:35
Codas Syndrome
Atrioventricular canal defect, Ventricular septal defect, Enamel hypoplasia, Atrial septal defect... OMIM:600373
Familial Cutaneous Collagenoma
Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure ORPHA:53296
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal cortical gyration, Polymicrogyria, Encephalocele, Exencephaly, Abnormality of neuronal m... ORPHA:2211
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Kagami-Ogata Syndrome
Diastasis recti, Inguinal hernia, Omphalocele ORPHA:254519
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Tetralogy of Fallot, Abnormality of neuronal migration, Overriding aorta, Omphalocele, Holoprosen... ORPHA:3186
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter, Cardiomyopathy OMIM:613752
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Joint contracture of the hand, Cardiomyopathy, Hypertrophic cardiomyopat... OMIM:300280
Simpson-Golabi-Behmel Syndrome
Cardiomyopathy, Umbilical hernia, Camptodactyly of finger, Bundle branch block, Inguinal hernia, ... ORPHA:373
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Fibrochondrogenesis
Omphalocele, Camptodactyly of finger ORPHA:2021
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Patent ductus arteriosus, Encephalocele, Omphalocele, Stillbirth OMIM:616300
Adams-Oliver Syndrome 5
Umbilical hernia, Inguinal hernia, Patent foramen ovale, Right atrial enlargement, Right ventricu... OMIM:616028
Specc1L-Related Hypertelorism Syndrome
Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect, Arrhythmia, Atrial septal defec... ORPHA:1519
Atrial Standstill 2
Atrial standstill, Absent P wave, Cardiomyopathy, Atrial cardiomyopathy, Dilatation of the ventri... OMIM:615745
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Arrhythmia, Atrial septal defect OMIM:249270
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Abnormal atrioventricular conduction, Skeletal muscle atrophy, Cardiomyopathy, Limb muscle weakne... ORPHA:329336
Naxos Disease
Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ... ORPHA:34217
Muscular Dystrophy, Duchenne Type
Muscular dystrophy, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Abnormal EK... OMIM:310200
Lethal Omphalocele-Cleft Palate Syndrome
Hydrocephalus, Omphalocele ORPHA:2736
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy ORPHA:67048
Exstrophy-Epispadias Complex
Abdominal wall defect, Abnormal heart morphology, Cystocele, Inguinal hernia, Cloacal exstrophy, ... ORPHA:322
Hec Syndrome
Arrhythmia, Endocardial fibroelastosis, Communicating hydrocephalus, Cardiomyopathy ORPHA:2119
Beckwith-Wiedemann Syndrome
Hypoglycemia, Umbilical hernia, Hypertrophic cardiomyopathy, Diastasis recti, Inguinal hernia, Co... ORPHA:116
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy OMIM:520000
Alg3-Cdg
Cardiomyopathy, Lipodystrophy, Macroglossia, Arthrogryposis multiplex congenita, Neural tube defect ORPHA:79321
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Increased variability in muscle fiber diameter, Generalized amyotrophy, Secundum atrial septal de... OMIM:616866
Hemochromatosis, Type 2B
Cardiomyopathy, Congestive heart failure OMIM:613313
Birk-Aharoni Syndrome
Muscular ventricular septal defect OMIM:620071
Autosomal Recessive Progressive External Ophthalmoplegia
Cardiomyopathy, Hand muscle weakness, Muscle fiber atrophy, Ragged-red muscle fibers, Myopathy, S... ORPHA:254886
Fryns Syndrome
Joint contracture of the hand, Ventricular septal defect, Atrial septal defect, Omphalocele, Stil... OMIM:229850
Otopalatodigital Syndrome, Type I
Omphalocele OMIM:311300
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:212140
Combined Immunodeficiency-Enteropathy Spectrum
Type I diabetes mellitus, Omphalocele, Ventricular septal defect ORPHA:436252
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Lipodystrophy, Telangiectasia of th... OMIM:212112
Bartsocas-Papas Syndrome 1
Inguinal hernia, Patent foramen ovale, Omphalocele, Inferiorly positioned umbilicus, Flexion cont... OMIM:263650
Neuraminidase Deficiency
Cardiomegaly, Skeletal muscle atrophy, Inguinal hernia, Cardiomyopathy OMIM:256550
Collagenoma, Familial Cutaneous
Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ... OMIM:115250
Familial Isolated Restrictive Cardiomyopathy
Tricuspid regurgitation, Hypertrophic cardiomyopathy, Mitral regurgitation, Pulmonary venous hype... ORPHA:75249
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Spinal dysraphism, Interphalangeal joint contracture of finger, Hypertrophic cardiomyopathy, Larg... ORPHA:96334
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormal heart morphology, Muscular ventricular septal defect, Perimembranous ventricular septal ... ORPHA:363444
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Hypertension, Cardiomyopathy ORPHA:3222
Right Atrial Isomerism
Total anomalous pulmonary venous return, Tetralogy of Fallot, Situs inversus totalis, Inguinal he... OMIM:208530
Myoectodermal Gonadal Dysgenesis Syndrome
Diastasis recti, Omphalocele OMIM:618419
Sandestig-Stefanova Syndrome
Camptodactyly, Perimembranous ventricular septal defect, Muscular ventricular septal defect OMIM:618804
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect OMIM:620062
Esophageal Atresia
Tetralogy of Fallot, Maternal diabetes, Omphalocele, Ventricular septal defect ORPHA:1199
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Congestive heart failure, Left ve... OMIM:613426
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Cardiomyopathy, Myopathy, Calf muscle hypertrophy... ORPHA:119
Tibial Aplasia-Ectrodactyly Syndrome
Omphalocele ORPHA:3329
Meckel Syndrome, Type 1
Occipital encephalocele, Camptodactyly of finger, Large placenta, Hydrocephalus, Abnormal cardiac... OMIM:249000
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, H... OMIM:261740
Melnick-Needles Syndrome
Tricuspid valve prolapse, Stillbirth, Omphalocele, Mitral valve prolapse OMIM:309350
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Nemaline bodies, Flexion contracture, Myopathy, Cardiomyopathy OMIM:616549
Hemochromatosis, Type 4
Arrhythmia, Cardiomyopathy OMIM:606069
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Omphalocele, Holoprosenceph... OMIM:610828
Alg1-Cdg
Abnormal heart morphology, Cardiomyopathy ORPHA:79327
Dilated Cardiomyopathy With Ataxia
Diaphragmatic eventration, Dilated cardiomyopathy, Muscular ventricular septal defect, Prolonged ... ORPHA:66634
Cyclic Vomiting Syndrome
Cardiomyopathy OMIM:500007
Hemochromatosis, Type 3
Cardiomyopathy OMIM:604250
Okamoto Syndrome
Aortic valve stenosis, Abnormal heart morphology, Abnormal left ventricle morphology, Abnormal mi... ORPHA:2729
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Cardiomyopathy, Portal hypertension, Bradycardia, Flexion contracture, A... OMIM:232500
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Atrioventricular block, Cardiomyopathy, Rhabdomyolysis, Pre... OMIM:212138
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... OMIM:611878
Charge Syndrome
Umbilical hernia, Tetralogy of Fallot, Abnormal aortic valve morphology, Facial palsy, Abnormal c... ORPHA:138
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Cardiomyopathy, Congestive heart... ORPHA:52430
Refsum Disease, Classic
Cardiomyopathy, Congestive heart failure, Limb muscle weakness, Cardiomegaly, Arrhythmia OMIM:266500
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Pericardial effusion, Multiple muscular ventricular septal defects, Limb hypertonia, Atrial septa... OMIM:620070
Polyarteritis Nodosa
Hypertension, Raynaud phenomenon, Cardiomyopathy, Pericarditis ORPHA:767
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Cardiomyopathy, Muscle f... OMIM:258450
Focal Dermal Hypoplasia
Umbilical hernia, Myelomeningocele, Diastasis recti, Inguinal hernia, Congenital diaphragmatic he... OMIM:305600
Genitourinary And/Or Brain Malformation Syndrome
Gray matter heterotopia, Holoprosencephaly, Omphalocele, Polymicrogyria OMIM:618820
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Limb muscle weakness, Ragged-red muscle fibers, Arrhythmia, Bradycardia, EMG: myo... OMIM:609286
Combined Oxidative Phosphorylation Deficiency 11
Cardiomyopathy, Myopathy, Neonatal death, Stillbirth, Pachygyria OMIM:614922
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Hypertension, Cardiomyopathy OMIM:102200
Autosomal Dominant Optic Atrophy Plus Syndrome
Myopathy, Limb-girdle muscle weakness, Cardiomyopathy ORPHA:1215
Pyruvate Dehydrogenase E3 Deficiency
Abnormal cardiac ventricular function, Cardiomyopathy ORPHA:2394
Oeis Complex
Myelomeningocele, Cloacal exstrophy, Hydrocephalus, Omphalocele, Bladder exstrophy OMIM:258040
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Muscular ventricular septal defect, Spina bifida occulta OMIM:619227
Ablepharon Macrostomia Syndrome
Umbilical hernia, Omphalocele, Camptodactyly of finger ORPHA:920
Carnitine Palmitoyltransferase Ii Deficiency
Cardiomyopathy, Polymicrogyria, Myopathy, Rhabdomyolysis, Abnormality of neuronal migration, Arrh... ORPHA:157
Hemochromatosis, Type 1
Cardiomyopathy, Congestive heart failure, Telangiectasia, Cardiomegaly, Arrhythmia OMIM:235200
Infantile Refsum Disease
Arrhythmia, Facial palsy, Cardiomyopathy ORPHA:772
Otopalatodigital Syndrome, Type Ii
Stillbirth, Elbow contracture, Umbilical hernia, Hydrocephalus, Atrial septal defect, Omphalocele... OMIM:304120
Hurler Syndrome
Aortic regurgitation, Cardiomyopathy, Umbilical hernia, Endocardial fibroelastosis, Inguinal hern... OMIM:607014
Gm1 Gangliosidosis
Cardiomyopathy, Camptodactyly of finger, Abnormal heart morphology, Congestive heart failure, Ing... ORPHA:354
Sotos Syndrome
Muscular ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Ventricular s... OMIM:117550
Heart Block, Congenital
Myocardial calcification, Absent atrioventricular node, Cardiomyopathy, Myocardial fibrosis OMIM:234700
Charge Syndrome
Secundum atrial septal defect, Umbilical hernia, Tetralogy of Fallot, Hypocalcemia, Ventricular s... OMIM:214800
Manitoba Oculotrichoanal Syndrome
Omphalocele OMIM:248450
Mucopolysaccharidosis, Type Vi
Cervical myelopathy, Macroglossia, Sinus tachycardia, Cardiomyopathy, Umbilical hernia, Tricuspid... OMIM:253200
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomyopathy, Polymicrogyria, Cardiomegaly, Abnormality of neuronal migration, Arrhythmia, Abno... ORPHA:228308
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy ORPHA:79312
Mucolipidosis Type Ii
Abnormal atrioventricular valve physiology, Aortic regurgitation, Cardiomyopathy, Umbilical herni... ORPHA:576
Acrocephalopolydactylous Dysplasia
Omphalocele OMIM:200995
Heart Defects, Congenital, And Other Congenital Anomalies
Total absence of the pericardium, Hypoplastic tricuspid valve, Glycosuria, Umbilical hernia, Tetr... OMIM:600001
C Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia, Omphalocele ORPHA:1308
Developmental And Epileptic Encephalopathy 75
Cardiomyopathy OMIM:618437
Combined Oxidative Phosphorylation Deficiency 42
Cardiomyopathy, Neonatal death OMIM:618839
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Cardiomyopathy, Myopathy, Rhabdomyolysis, Arrhythmia ORPHA:228305
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy OMIM:600721
Peroxisome Biogenesis Disorder 9B
Cardiomyopathy OMIM:614879
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Cardiomyopathy OMIM:619046
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Rha... ORPHA:26791
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Skeletal muscle atrophy, Limb hypertonia, Cardiomyopathy, Generalized amyotrophy OMIM:617710
Alg12-Cdg
Pachygyria, Biventricular hypertrophy, Muscular ventricular septal defect, Patent foramen ovale, ... ORPHA:79324
American Trypanosomiasis
Myocarditis, Arrhythmia, Cardiomyopathy, Congestive heart failure ORPHA:3386
Infantile Liver Failure Syndrome 2
Cardiomyopathy OMIM:616483
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Cardiomyopathy ORPHA:324525
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy ORPHA:27
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Umbilical hernia, Corneal neovascularization, Inguinal hernia, Neonatal death, Atrial septal defe... OMIM:308205
Amyloidosis, Finnish Type
Cardiac amyloidosis, Decreased heart rate variability, Orthostatic hypotension, Cardiomyopathy OMIM:105120
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Cardiomyopathy, Absent muscle fiber merosin, Reduced left ventricular ejectio... ORPHA:258
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, Myopathy, Cardiomegaly, Left ventricular hypertrophy, Cardiac arrest OMIM:617713
Ablepharon-Macrostomia Syndrome
Camptodactyly, Ventral hernia, Omphalocele OMIM:200110
Mcleod Syndrome
Dilated cardiomyopathy, Cardiomyopathy, Myopathy, Rhabdomyolysis, Atrial fibrillation OMIM:300842
Mitochondrial Trifunctional Protein Deficiency
Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Lower limb muscle weakness, Mi... ORPHA:746
Vici Syndrome
Gray matter heterotopia, Cardiomyopathy ORPHA:1493
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Severely reduced left ventricular ejection fraction, Inguinal hernia, Cardi... OMIM:252600
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Skeletal muscle atrophy, Cardiomyopathy OMIM:620089
Propionic Acidemia
Cerebellar hemorrhage, Limb hypertonia, Cardiomyopathy OMIM:606054
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Abnormal cortical gyration, Shoulder flexion contracture, Polymicrogyria, Elbow flexion contractu... OMIM:210710
Hurler Syndrome
Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Endocardial fibroelasto... ORPHA:93473
Mucopolysaccharidosis, Type Vii
Cardiomyopathy, Umbilical hernia, Abnormal heart valve morphology, Diastasis recti, Hydrocephalus... OMIM:253220
Fraser Syndrome
Myelomeningocele, Encephalocele, Omphalocele, Umbilical hernia ORPHA:2052
Pallister-Killian Syndrome
Aortic valve stenosis, Camptodactyly of 2nd-5th fingers, Umbilical hernia, Hypertrophic cardiomyo... OMIM:601803
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Proximal muscle weakness in upper limbs, Cardiomyopathy, Lower limb muscle weakness, Dilatation o... ORPHA:363623
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Flexion contracture, Myopathy, Cardiomyopathy, Weakness of facial musculature OMIM:201470
Primary Triglyceride Deposit Cardiomyovasculopathy
Rimmed vacuoles, Coronary artery stenosis, Cardiomyopathy, Abnormal cardiomyocyte morphology, Pal... ORPHA:565612
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal dental enamel morphology, Inguinal hernia, Omphalocele, Camptodactyly of finger ORPHA:2273
Kearns-Sayre Syndrome
Arrhythmia, Third degree atrioventricular block, Cardiomyopathy, Ragged-red muscle fibers OMIM:530000
Martsolf Syndrome 1
Cardiac arrest, Inguinal hernia, Cardiomyopathy, Congestive heart failure OMIM:212720
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Cardiomyopathy, Camptodactyly of toe, Cardiomegaly, Impaired myocardial contra... ORPHA:158687
Refsum Disease
Skeletal muscle atrophy, Cardiomyopathy, Heart block ORPHA:773
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Congestive heart failure, Decreased muscle mass, Portal hypertension, Cardiomegal... ORPHA:465508
Acquired Generalized Lipodystrophy
Cardiomyopathy, Generalized lipodystrophy, Abnormal cardiovascular system physiology, Myopathy, P... ORPHA:79086
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Hernia, Cardiomyopathy, Patent ductus arteriosus, Abnormal cardiac septum morphology OMIM:217980
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Limb muscle weakness, Cardiomyopathy, Congestive heart failure OMIM:619259
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Cardiomyopathy, Rhabdomyolysis, Arrhythmia, Ventricular tachycardia ORPHA:159
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Cardiomyopathy, Punctate vasculitis skin lesions, Weakness of facial... ORPHA:247691
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Muscular ventricular septal defect, Intrinsic hand muscle atrophy OMIM:618569
Mucopolysaccharidosis Type 2
Contractures of the large joints, Cardiomyopathy, Umbilical hernia, Abnormal heart morphology, Ab... ORPHA:580
Congenital Enterovirus Infection
Myocarditis, Hypotension, Pericardial effusion, Cardiomyopathy ORPHA:292
Penoscrotal Transposition
Cardiomyopathy ORPHA:2842
Omphalocele Syndrome, Shprintzen-Goldberg Type
Omphalocele ORPHA:3164
Juvenile Dermatomyositis
Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Myositis, Angina pe... ORPHA:93672
Amyloidosis, Hereditary Systemic 1
Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly, Cardiomyopathy OMIM:105210
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Cardiomyopathy OMIM:251000
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Multiple muscular ventricular septal defects, Pulmonic stenosis OMIM:615508
Noonan Syndrome 2
Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Mitral stenosis, Mitr... OMIM:605275
Shprintzen Omphalocele Syndrome
Omphalocele OMIM:182210
Holt-Oram Syndrome
Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Sinus bradycardia, Ve... OMIM:142900
Wolfram Syndrome 1
Cardiomyopathy OMIM:222300
Mucopolysaccharidosis Type 2, Severe Form
Macroglossia, Cardiomyopathy, Umbilical hernia, Camptodactyly of finger, Abnormal heart valve mor... ORPHA:217085
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Communicating hydrocephalus, Cardiomyopathy OMIM:616084
Mucopolysaccharidosis Type 2, Attenuated Form
Macroglossia, Cardiomyopathy, Umbilical hernia, Camptodactyly of finger, Abnormal heart valve mor... ORPHA:217093
Melas
Dilated cardiomyopathy, Cardiomyopathy, Concentric hypertrophic cardiomyopathy, Hypertrophic card... ORPHA:550
Feingold Syndrome Type 1
Abnormal heart morphology, Multiple muscular ventricular septal defects, Tricuspid stenosis, Pate... ORPHA:391641
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Endocardial fibroelastosis, Mitral regurgitation, Cardiomyopathy OMIM:226100
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Dilated cardiomyopathy, Skeletal muscle atrophy, Cardiomyopathy, Congestive heart f... OMIM:615895
Neutral Lipid Storage Disease With Ichthyosis
Cardiomyopathy, Shoulder girdle muscle weakness, Myopathy, Increased intramyocellular lipid dropl... ORPHA:98907
Neutral Lipid Storage Myopathy
Rimmed vacuoles, Cardiomyopathy, Congestive heart failure, Generalized limb muscle atrophy, Hand ... ORPHA:98908
Cartilage-Hair Hypoplasia
Spinal dysraphism, Cardiomyopathy, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal... ORPHA:175
Hermansky-Pudlak Syndrome 1
Hematochezia, Epistaxis, Cardiomyopathy OMIM:203300
Lipodystrophy, Congenital Generalized, Type 1
Cardiomyopathy, Umbilical hernia, Generalized muscular appearance from birth, Reduced subcutaneou... OMIM:608594
Cardiospondylocarpofacial Syndrome
Muscular ventricular septal defect, Mitral regurgitation, Congenital diaphragmatic hernia, Dyspla... OMIM:157800
Vici Syndrome
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Myopathy, Left ventricular hype... OMIM:242840
Wrinkly Skin Syndrome
Hypoplasia of the musculature, Umbilical hernia, Muscular ventricular septal defect, Inguinal her... OMIM:278250
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hypoplastic left heart, Elbow flexion contracture, Mitral atresia, Muscular ventricular septal de... OMIM:619503
Friedreich Ataxia
Cardiomyopathy, Hand muscle atrophy ORPHA:95
Agel Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Facial palsy, Cardiomyopathy ORPHA:85448
Rabson-Mendenhall Syndrome
Cardiomyopathy, Reduced subcutaneous adipose tissue, Ventricular septal defect, Atrial septal def... ORPHA:769
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Aortic regurgitation, Muscular ventricular septal defect, Truncus arteriosus, Bicuspid aortic val... OMIM:612474
Zimmermann-Laband Syndrome 1
Spina bifida occulta, Patent ductus arteriosus, Cardiomyopathy, Umbilical hernia OMIM:135500
Sacral Defect With Anterior Meningocele
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Sacral lipoma, Dermal sinus tract OMIM:600145
Von Hippel-Lindau Disease
Upper limb muscle weakness, Cardiomyopathy, Palpitations, Distal lower limb muscle weakness, Arrh... ORPHA:892
Koolen-De Vries Syndrome Due To A Point Mutation
Cardiomyopathy, Abnormal heart morphology, Hand muscle atrophy, Ventricular septal defect, Bicusp... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cardiomyopathy, Abnormal heart morphology, Hand muscle atrophy, Ventricular septal defect, Bicusp... ORPHA:363958
Mullegama-Klein-Martinez Syndrome
Hypoplastic left heart, Apical muscular ventricular septal defect, Facial palsy, Congenital diaph... OMIM:301022
Toriello-Carey Syndrome
Cardiomyopathy, Tetralogy of Fallot, Abnormal cardiac septum morphology, Patent ductus arteriosus... ORPHA:3338
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Abnormal tendon morphology, Increased LDL cholesterol concentration, Hyperl... ORPHA:391665
Hermansky-Pudlak Syndrome
Abnormal dental enamel morphology, Epistaxis, Gastrointestinal hemorrhage, Cardiomyopathy ORPHA:79430
Primary Hyperoxaluria
Arterial occlusion, Cardiomyopathy, Intermittent claudication, Raynaud phenomenon, Heart block ORPHA:416
Neutral Lipid Storage Disease With Myopathy
Myopathy, Increased muscle lipid content, Cardiomyopathy OMIM:610717
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Omphalocele ORPHA:93271
Simpson-Golabi-Behmel Syndrome, Type 1
Total anomalous pulmonary venous return, Cardiomyopathy, Umbilical hernia, Diastasis recti, Ingui... OMIM:312870
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Pulmonary arterial ... ORPHA:3472
Wolfram Syndrome
Gastrointestinal hemorrhage, Myopathy, Cardiomyopathy ORPHA:3463
Postinfectious Vasculitis
Bacterial endocarditis, Cardiomyopathy, Cerebral vasculitis, Ischemic stroke, Raynaud phenomenon,... ORPHA:48435
Essential Thrombocythemia
Transient ischemic attack, Myocardial infarction ORPHA:3318
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Portal hypertension ORPHA:131
Primary Myelofibrosis
Portal hypertension ORPHA:824
Thrombocythemia 1
OMIM:187950
Myelofibrosis
OMIM:254450

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.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter