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Gene: Hira MGI:99430

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Gene Summary

Name:
histone cell cycle regulator
Synonyms:
Gm15797,  Tuple1,  D16Ertd95e

Order Alleles

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal behavior Hiratm1a(EUCOMM)Wtsi HET   Early adult 8.29×10-05
decreased leukocyte cell number Hiratm1a(EUCOMM)Wtsi HET   Early adult 9.10×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 100% (2 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 100% (2 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 100% (2 of 2)
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 100% (2 of 2)
Lung N/A heterozygote 100% (2 of 2)
Lymph node N/A heterozygote 100% (2 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 50% (1 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 100% (2 of 2)
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 100% (2 of 2)
Pituitary gland N/A heterozygote 100% (2 of 2)
Prostate gland N/A heterozygote 50% (1 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 50% (1 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote Ambiguous
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote Ambiguous
Thyroid gland N/A heterozygote 100% (2 of 2)
Trachea N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Legacy Phenotype Associated Images
Hiratm1a(EUCOMM)Wtsi
head, WT, Male, WTSI
Hiratm1a(EUCOMM)Wtsi
head, WT, Male, WTSI
Hiratm1a(EUCOMM)Wtsi
body, HET, Male, WTSI
Hiratm1a(EUCOMM)Wtsi
head, HET, Male, WTSI
Hiratm1a(EUCOMM)Wtsi
forearm, HET, Male, WTSI

View all 243 images

Hiratm1a(EUCOMM)Wtsi
abnormal epidermis stratum basale morphology, HET, Female, WTSI
Hiratm1a(EUCOMM)Wtsi
abnormal epidermis stratum basale morphology, HET, Female, WTSI
Hiratm1a(EUCOMM)Wtsi
abnormal epidermis stratum basale morphology, HET, Female, WTSI
Hiratm1a(EUCOMM)Wtsi
eye, cornea/lens fusion, corneal opacity, HET, Female, WTSI

Human diseases caused by Hira 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 Hira by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
22Q11.2 Deletion Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifida, Short neck, Short s... ORPHA:567

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Ventricular septal defect ORPHA:1296
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart ORPHA:3283
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida, Mitral valve prolapse OMIM:211960
Verheij Syndrome
Branchial cyst, Ventricular septal defect, Short stature, Short neck, Growth delay, Intrauterine ... OMIM:615583
X-Linked Mandibulofacial Dysostosis
Short stature, Branchial anomaly, Pulmonic stenosis, Webbed neck, Abnormal mitral valve morphology ORPHA:1131
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida ORPHA:2476
Branchiogenic-Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature OMIM:609166
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Short neck, Low posteri... ORPHA:2345
Thoraco-Abdominal Enteric Duplication
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Wildervanck Syndrome
Webbed neck, Meningocele, Low posterior hairline, Short neck ORPHA:3456
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Short stature, Situs inversus totalis, Hydrocephalus, M... ORPHA:1908
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Congenital Vertical Talus
Myelomeningocele ORPHA:178382
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Branchial cyst, Severe postnatal growth retardation ORPHA:435938
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus OMIM:267500
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Branchiootic Syndrome 3
Branchial cyst OMIM:608389
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... OMIM:611134
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Short stature ORPHA:50815
Nathalie Syndrome
Arrhythmia, Short stature ORPHA:2663
Humero-Radial Synostosis
Meningocele ORPHA:3265
Supravalvular Aortic Stenosis
Arrhythmia, Supravalvular aortic stenosis ORPHA:3193
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:453499
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida OMIM:207950
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia ORPHA:318
Triploidy
Short neck, Hydrocephalus, Meningocele, Abnormal cardiac septum morphology, Holoprosencephaly, In... ORPHA:3376
Diaphanospondylodysostosis
Myelomeningocele, Short neck ORPHA:66637
Schisis Association
Encephalocele, Anencephaly, Spina bifida ORPHA:63862
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Spina bifida, Patent ductus arteriosus, Anomalous pulmonary venous return,... ORPHA:1120
Meckel Syndrome, Type 2
Encephalocele, Meningocele, Anencephaly, Intrauterine growth retardation, Cystic hygroma OMIM:603194
Vitamin K Antagonist Embryofetopathy
Intrauterine growth retardation, Myelomeningocele, Hydrocephalus, Short neck ORPHA:1914
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Holoprosencephaly
Encephalocele, Ventricular septal defect, Abnormal pulmonary valve morphology, Short neck, Hydroc... ORPHA:2162
Bor Syndrome
Branchial cyst ORPHA:107
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... ORPHA:75566
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Short stature, Abnormality of dental eruption, Spina bifida ORPHA:1327
Czeizel-Losonci Syndrome
Thickened nuchal skin fold, Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Spina bi... ORPHA:2437
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula OMIM:113650
Alg3-Cdg
Neural tube defect, Cardiomyopathy ORPHA:79321
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... ORPHA:2041
Developmental Delay, Language Impairment, And Ocular Abnormalities
Myelomeningocele, Short stature, Pulmonic stenosis OMIM:620141
Autosomal Recessive Spondylocostal Dysostosis
Short stature, Short neck, Meningocele, Anomalous pulmonary venous return, Umbilical hernia, Spin... ORPHA:2311
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Intrauterine growth retardation, Hy... OMIM:616198
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Ventricular septal defect, Short stature, Growth delay, Atrial septal defect, ... ORPHA:261330
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... ORPHA:45453
Isolated Posterior Meningocele
Limitation of neck motion, Meningocele, Lipomyelomeningocele, Hydrocephalus, Neural tube defect, ... ORPHA:268810
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Growth delay OMIM:614424
Oligomeganephronia
Branchial cyst, Secundum atrial septal defect ORPHA:2260
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... OMIM:608751
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Low poster... ORPHA:261337
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria... ORPHA:99105
Enlarged Parietal Foramina
Occipital encephalocele, Myelomeningocele ORPHA:60015
Cerebrocostomandibular Syndrome
Ventricular septal defect, Short stature, Spina bifida, Myelomeningocele, Meningocele, Webbed nec... ORPHA:1393
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Increased nuchal translucency, Abnormal heart m... ORPHA:352665
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Sudden cardiac death, First degree atrioventricular block, Dilated cardiomyopathy, Syncope, Inter... OMIM:181350
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele, Short stature ORPHA:2031
Spondylocostal Dysostosis 4, Autosomal Recessive
Short stature, Dextrocardia, Short neck, Situs inversus totalis, Myelomeningocele, Hydrocephalus,... OMIM:613686
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Hydrops fetalis, Abnormal left ventricular fu... ORPHA:45452
Fountain Syndrome
Spina bifida occulta, Short stature, Spina bifida ORPHA:3219
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia, Short stature OMIM:618453
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh... ORPHA:1345
Muscular Dystrophy, Becker Type
Cardiomyopathy, Arrhythmia, Abnormal EKG OMIM:300376
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Phaver Syndrome
Intrauterine growth retardation, Myelomeningocele, Ventricular septal defect ORPHA:2876
Lateral Meningocele Syndrome
Bicuspid aortic valve, Ventricular septal defect, Short stature, Short neck, Hydrocephalus, Menin... OMIM:130720
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... OMIM:618052
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ... OMIM:608758
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Spina bifida, Short neck OMIM:616038
Pelvis-Shoulder Dysplasia
Short stature, Spina bifida, Mesomelic/rhizomelic limb shortening, Hydrocephalus, Neonatal short-... ORPHA:2839
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Right atrial enlargement, Atrioventricular blo... OMIM:115197
Lateral Meningocele Syndrome
Ventricular septal defect, Short neck, Meningocele, Low posterior hairline, Umbilical hernia ORPHA:2789
Mosaic Trisomy 9
Ventricular septal defect, Dextrocardia, Spina bifida, Short neck, Abnormal heart valve morpholog... ORPHA:99776
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... ORPHA:1686
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Patent ductus arteriosus ORPHA:861
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilatation, Abn... ORPHA:563
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Short stature, Spinal dysraphism, Hypoplastic left heart, Aortic valve stenosis, Atrial septal de... OMIM:617660
Iniencephaly
Encephalocele, Rhizomelia, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dys... ORPHA:63259
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, ST segment elevation, Ventricular tachycardia, Ventricular septal hypert... ORPHA:263297
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Arrhythmia, Spina bifida occulta, Mitral valve prolapse ORPHA:230839
Symmetrical Thalamic Calcifications
Arrhythmia, Polyhydramnios ORPHA:1314
Leber Hereditary Optic Neuropathy
Arrhythmia, Ventricular preexcitation, Retinal telangiectasia ORPHA:104
Maternally-Inherited Diabetes And Deafness
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia ORPHA:225
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Capillary leak, Abno... ORPHA:1041
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... OMIM:611705
8Q24.3 Microdeletion Syndrome
Branchial cyst, Infancy onset short-trunk short stature, Ventricular septal defect, Short stature... ORPHA:508488
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele ORPHA:1827
Partial Atrioventricular Septal Defect
Atrial flutter, Bicuspid aortic valve, Angina pectoris, Coronary sinus enlargement, Partial atrio... ORPHA:1330
Sacral Defect With Anterior Meningocele
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract OMIM:600145
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Chromosome 17P13.1 Deletion Syndrome
Spina bifida, Short neck, Hydrocephalus, Webbed neck, Umbilical hernia, Broad neck OMIM:613776
Polyvalvular Heart Disease Syndrome
Tricuspid regurgitation, Abnormal heart valve morphology, Short stature, Mitral valve prolapse, P... ORPHA:228410
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Pulmonary edema, Left atrial enlargement... ORPHA:57777
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Congestive heart failure, Abnormal left ventricular function, Hyp... OMIM:540000
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Arrhythmia OMIM:300696
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... ORPHA:85451
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... ORPHA:2369
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Natal tooth, Short stature, Atrial septal defect, Intrauterine growth retardation... OMIM:620186
Trisomy 18
Ventricular septal defect, Short stature, Spina bifida, Anencephaly, Growth delay, Holoprosenceph... ORPHA:3380
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... OMIM:115200
Familial Isolated Restrictive Cardiomyopathy
Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventricular arrhythmi... ORPHA:75249
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati... ORPHA:99103
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Abnormal pulmonary valve morphology, Congestive heart failure, Growth delay, Abnormal aortic valv... ORPHA:1194
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Vacterl With Hydrocephalus
Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus, Spina bifida ORPHA:3412
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly ORPHA:85447
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... ORPHA:66529
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Short stature, Spina bifida occulta, Perimembranous ventricular septal defect, Transposition of t... OMIM:617877
Dystonia 23
Arrhythmia OMIM:614860
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Pagod Syndrome
Encephalocele, Short stature, Spina bifida, Situs inversus totalis, Meningocele, Hypoplastic left... ORPHA:991
Phakomatosis Pigmentokeratotica
Spina bifida ORPHA:2874
Hemochromatosis, Type 2A
Cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure OMIM:602390
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Short neck, Hydrocephalus, Anencephaly, Atrial septal defect, Occipital meningocele OMIM:616546
Fibular Hemimelia
Spina bifida, Abnormal heart morphology ORPHA:93323
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Dk1-Cdg
Short stature, Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Inter... ORPHA:91131
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Short stature, Abnormal pulmonary valve mor... ORPHA:500
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Pedal edema, Pleural effusion, Bra... ORPHA:330001
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... OMIM:306955
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Short stature, Situs inversus totalis, Cardiomyopathy, Atrial septal d... OMIM:249270
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Trisomy 20P
Umbilical hernia, Low posterior hairline, Spina bifida, Short neck ORPHA:261318
Lathosterolosis
Intrauterine growth retardation, Meningocele ORPHA:46059
Trisomy 8Q
Myelomeningocele, Short neck ORPHA:1752
Neonatal Lupus Erythematosus
Prolonged QT interval, Heart block, Hydrocephalus, Dilated cardiomyopathy, Atrioventricular block... ORPHA:398124
Basal Cell Nevus Syndrome 1
Cardiac rhabdomyoma, Hydrocephalus, Cardiac fibroma, Spina bifida OMIM:109400
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... ORPHA:363705
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Cardiomyopathy, Arrhythmia OMIM:612999
Propionic Acidemia
Cardiomyopathy, Arrhythmia ORPHA:35
Hec Syndrome
Communicating hydrocephalus, Polyhydramnios, Cardiomyopathy, Endocardial fibroelastosis, Arrhythmia ORPHA:2119
Nail-Patella Syndrome
Short stature, Spina bifida OMIM:161200
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Oligohydramnios, Growth delay, Hypertension, Arrhythmia, Neonatal death, Umbilical hernia, Hypert... OMIM:614052
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... ORPHA:99106
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... ORPHA:1055
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Bran... OMIM:164210
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid regurgitation, A... ORPHA:1677
Phocomelia, Schinzel Type
Intrauterine growth retardation, Disproportionate short stature, Meningocele, Short neck ORPHA:2879
Focal Dermal Hypoplasia
Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Abnormal cardiac septum morpho... ORPHA:2092
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Redundant neck skin, Short stature, Rhizomelic leg shortening, Meningoce... ORPHA:397715
Neu-Laxova Syndrome 1
Ventricular septal defect, Spina bifida, Short neck, Patent foramen ovale, Patent ductus arterios... OMIM:256520
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Short stature, Spina bifida OMIM:162200
Branchiooculofacial Syndrome
Short neck, Postnatal growth retardation, Low posterior hairline, Branchial anomaly, Intrauterine... OMIM:113620
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Waardenburg Syndrome
Myelomeningocele ORPHA:3440
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Neu-Laxova Syndrome
Intrauterine growth retardation, Spina bifida ORPHA:2671
Hemochromatosis, Type 4
Cardiomyopathy, Arrhythmia OMIM:606069
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... ORPHA:542306
Jacobsen Syndrome
Ventricular septal defect, Short stature, Spina bifida, Short neck, Growth delay, Hypoplastic lef... ORPHA:2308
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Patent ductus arteriosus, Torticollis, Atrioventricular canal defect, Spina bifida OMIM:619480
Orofaciodigital Syndrome Vi
Occipital meningocele, Hypoplastic left heart, Short stature OMIM:277170
Hemochromatosis, Type 1
Cardiomegaly, Congestive heart failure, Telangiectasia, Cardiomyopathy, Pleural effusion, Arrhyth... OMIM:235200
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Arrhythmia, Hypertension ORPHA:3222
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Bicuspid aortic valve, Truncus arteriosus, Spina bifida, Short neck, Ventricular septal defect, S... ORPHA:508498
Subaortic Stenosis-Short Stature Syndrome
Arrhythmia, Short stature, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis ORPHA:3191
Vater/Vacterl Association
Occipital encephalocele, Ventricular septal defect, Spina bifida, Postnatal growth retardation, P... OMIM:192350
Noonan Syndrome 5
Short stature, Polyhydramnios, Arrhythmia, Pulmonic stenosis, Atrial septal defect, Hypertrophic ... OMIM:611553
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Lymphedema, Congestive heart f... OMIM:301500
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Arrhythmia ORPHA:1808
Rheumatic Fever
Pericarditis, Abnormal heart valve morphology, Epistaxis, Myocarditis, Endocarditis, Abnormal aor... ORPHA:3099
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Ventricular septal defect, Pericardial effusion, Dilated card... ORPHA:26793
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Abnormal cardiac ventricle morphology, Jaw claudicatio... ORPHA:85443
Muscular Dystrophy, Progressive Pectorodorsal
Arrhythmia OMIM:310095
Fanconi Anemia
Short stature, Spina bifida, Hydrocephalus, Patent ductus arteriosus, Growth delay, Abnormal card... ORPHA:84
Congenital Muscular Dystrophy Due To Lmna Mutation
Congestive heart failure, Arrhythmia ORPHA:157973
Infantile Refsum Disease
Cardiomyopathy, Arrhythmia, Short stature ORPHA:772
Hallermann-Streiff Syndrome
Natal tooth, Proportionate short stature, Spina bifida OMIM:234100
American Trypanosomiasis
Edema, Periorbital edema, Myocarditis, Congestive heart failure, Cardiomyopathy, Arrhythmia ORPHA:3386
Chromosome 2Q37 Deletion Syndrome
Arrhythmia, Short stature, Subvalvular aortic stenosis OMIM:600430
Mitochondrial Dna Depletion Syndrome 11
Arrhythmia, Dilated cardiomyopathy OMIM:615084
22Q11.2 Deletion Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifida, Short neck, Short s... ORPHA:567
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricular fibrillation ORPHA:90647
Isolated Atp Synthase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Short stature, Arrhythmia ORPHA:254913
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Systemic Capillary Leak Syndrome
Pericarditis, Myocarditis, Pedal edema, Pleural effusion, Hypotension, Arrhythmia, Pulmonary edema ORPHA:188
Witteveen-Kolk Syndrome
Growth delay, Branchial fistula, Short stature, Intrauterine growth retardation OMIM:613406
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... OMIM:302060
Refsum Disease, Classic
Cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomegaly OMIM:266500
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Arrhythmia, Short stature ORPHA:2928
Carnitine Palmitoyl Transferase 1A Deficiency
Hypertrophic cardiomyopathy, Arrhythmia, Sudden cardiac death ORPHA:156
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Congestive heart failure, Arrhythmia ORPHA:85446
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Arrhythmia, Bradycardia OMIM:609286
Thrombocytopenia-Absent Radius Syndrome
Ventricular septal defect, Short stature, Spina bifida, Patent ductus arteriosus, Atrial septal d... OMIM:274000
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Intr... ORPHA:254346
Semilobar Holoprosencephaly
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect ORPHA:220386
Alobar Holoprosencephaly
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect ORPHA:93926
Lobar Holoprosencephaly
Short stature, Hydrocephalus, Abnormal heart morphology, Growth delay, Neural tube defect ORPHA:93924
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Arrhythmia OMIM:616516
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Arrhythmia, Dilated cardiomyopathy ORPHA:352447
Campomelic Dysplasia
Spina bifida, Hydrocephalus, Abnormal heart morphology, Spinal dysraphism, Disproportionate short... OMIM:114290
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Cardiomegaly ORPHA:42
Split Cord Malformation
Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus ORPHA:573278
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Postnatal growth retardation, Hyd... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Postnatal growth retardation, Hyd... ORPHA:363958
Aicardi Syndrome
Postnatal growth retardation, Spina bifida OMIM:304050
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia OMIM:310200
Ataxia With Vitamin E Deficiency
Hypertrophic cardiomyopathy, Arrhythmia ORPHA:96
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Capillary leak, Pleural effusion, Reduced left ventricular ejection fra... ORPHA:542323
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Arrhythmia ORPHA:99944
Liddle Syndrome
Hypertension, Arrhythmia, Cerebral ischemia ORPHA:526
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida, Abnormal heart morphology ORPHA:322
Knobloch Syndrome 1
Occipital meningocele, Occipital encephalocele, Patent ductus arteriosus, Spina bifida occulta OMIM:267750
Ogden Syndrome
Postnatal growth retardation, Cardiogenic shock, Arrhythmia, Ventricular septal defect ORPHA:276432
Marfan Syndrome
Mitral valve calcification, Meningocele, Mitral valve prolapse ORPHA:558
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Growth delay, Arrhythmia, Cardiac arrest ORPHA:168593
Thrombotic Thrombocytopenic Purpura
Arrhythmia, Myocardial infarction ORPHA:54057
Arima Syndrome
Growth delay, Occipital meningocele OMIM:243910
Ogden Syndrome
Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Lymphedema, Ventricular tachy... OMIM:300855
Fabry Disease
Abnormal endocardium morphology, Conjunctival telangiectasia, Bundle branch block, Angina pectori... ORPHA:324
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Postnatal growth retardation, Atrial septal defect, Intrauterine growth retardation, Arrhythmia, ... OMIM:619184
Carnitine Palmitoyltransferase I Deficiency
Arrhythmia, Cardiomegaly OMIM:255120
Kearns-Sayre Syndrome
Cardiomyopathy, Arrhythmia, Short stature, Third degree atrioventricular block OMIM:530000
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Arrhythmia, Mildly reduced left ventricular ejection fraction OMIM:618098
Otopalatodigital Syndrome, Type Ii
Short stature, Spina bifida, Short neck, Postnatal growth retardation, Hydrocephalus, Stillbirth,... OMIM:304120
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe... OMIM:153400
Typhoid
Gastrointestinal hemorrhage, Arrhythmia, Epistaxis, Cardiac arrest ORPHA:99745
Symptomatic Form Of Hfe-Related Hemochromatosis
Portal hypertension, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Joint swelling, Arrh... ORPHA:465508
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Arrhythmia, Edema, Pulmonary embolism ORPHA:624
Acquired Methemoglobinemia
Tachycardia, Syncope, Palpitations, Arrhythmia ORPHA:464453
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Abnormal heart valve morphology, Abnormal pulmonary valve morphology... ORPHA:580
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Cardiomyopathy, Arrhythmia ORPHA:228305
Rubinstein-Taybi Syndrome 1
Ventricular septal defect, Short stature, Spina bifida, Postnatal growth retardation, Patent duct... OMIM:180849
Spontaneous Periodic Hypothermia
Arrhythmia ORPHA:29822
Singleton-Merten Syndrome 2
Aortic valve calcification, Aortic valve stenosis, Short stature, Arrhythmia OMIM:616298
Heart-Hand Syndrome Type 2
Arrhythmia ORPHA:1350
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Hydrops fetalis OMIM:609015
Spinocerebellar Ataxia, Autosomal Recessive 33
Arrhythmia OMIM:620208
Multiple Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Arrhythmia, Congestive heart failure, Abnormal heart morphology ORPHA:26791
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia OMIM:616949
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Hydrocephalus, Cerebral ischemia, Arrhythmia ORPHA:60040
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Left ven... ORPHA:746
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomegaly, Heart block, Hydrocephalus, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia ORPHA:228308
Legionnaires Disease
Pericarditis, Myocarditis, Endocarditis, Hypotension, Arrhythmia ORPHA:549
Mgat2-Cdg
Ventricular septal defect, Patent ductus arteriosus, Hydrops fetalis, Abnormal heart morphology, ... ORPHA:79329
Lyme Disease
Joint swelling, Arrhythmia, Atrioventricular block ORPHA:91546
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Short neck, Abnormal heart morphology, Neural tube defect, Umbilical h... ORPHA:798
Carnitine-Acylcarnitine Translocase Deficiency
Cardiomyopathy, Arrhythmia, Ventricular tachycardia, Hypotension ORPHA:159
Scorpion Envenomation
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Edema, Myocarditis, Congestive ... ORPHA:466677
Giant Cell Arteritis
Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Cerebral ischemia, Arrhythmia, Double ... ORPHA:397
Lymphedema-Distichiasis Syndrome
Patent ductus arteriosus, Predominantly lower limb lymphedema, Arrhythmia ORPHA:33001
Generalized Pseudohypoaldosteronism Type 1
Proportionate short stature, Hypovolemic shock, Arrhythmia, Dehydration ORPHA:171876
Mucopolysaccharidosis Type 2, Severe Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Short stature, Heart murmur... ORPHA:217085
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Epistaxis, Congestive heart failure, Vasculitis, Arrhy... ORPHA:727
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Short stature, Heart murmur... ORPHA:217093
Oculodentodigital Dysplasia
Umbilical hernia, Arrhythmia, Ventricular septal defect ORPHA:2710
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o... ORPHA:93672
Oeis Complex
Myelomeningocele, Hydrocephalus OMIM:258040
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Short stature, Junctional ectopic tachycardia, Hydro... OMIM:309801
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Edema, Right ventricular failure, Arterial occlusion, Palpitations, Hypotensi... ORPHA:100078
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Cardiomegaly, Dilated cardiomyopathy, Arrhythmia, Antenatal intracerebral hemorrhage, Oligohydram... OMIM:608836
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Growth delay, Hypertrophic cardiomyopathy, Arrhythmia OMIM:615471
Agel Amyloidosis
Edema, Xerostomia, Cardiomyopathy, Blepharochalasis, Arrhythmia, Orthostatic hypotension due to a... ORPHA:85448
Specc1L-Related Hypertelorism Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical hernia, Arrh... ORPHA:1519
Colchicine Poisoning
Myocarditis, Congestive heart failure, Hypovolemia, Dehydration, Hypotension, Cardiogenic shock, ... ORPHA:31824
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Arrhythmia, Short stature ORPHA:3201
Kleefstra Syndrome
Short stature, Ventricular septal defect, Bicuspid aortic valve, Arrhythmia, Tetralogy of Fallot ORPHA:261494
Autosomal Dominant Progressive External Ophthalmoplegia
Atrial fibrillation, Edema, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, P... ORPHA:254892
16P11.2P12.2 Microdeletion Syndrome
Intrauterine growth retardation, Arrhythmia, Tricuspid regurgitation, Short stature ORPHA:261211
Carnitine Palmitoyltransferase Ii Deficiency
Cardiomyopathy, Hydrocephalus, Arrhythmia ORPHA:157
Primary Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Low-output congestive heart failure, Abnormal cardiomyocyte morphology, Cardiomy... ORPHA:565612
Dominant Beta-Thalassemia
High-output congestive heart failure, Dilated cardiomyopathy, Growth delay, Delayed puberty, Arrh... ORPHA:231226
Familial Isolated Hypoparathyroidism
Arrhythmia, Short stature ORPHA:2238
Glycogen Storage Disease Due To Aldolase A Deficiency
Growth delay, Arrhythmia ORPHA:57
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Hyperkalemic Periodic Paralysis
Congestive heart failure, Arrhythmia ORPHA:682
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Arrhythmia, Ventricular bigeminy, Left bundle branch block OMIM:610131
Alternating Hemiplegia Of Childhood
Cardiac conduction abnormality, Dehydration, Cardiomyopathy, Abnormal T-wave, Arrhythmia ORPHA:2131
Ulnar-Mammary Syndrome
Arrhythmia, Ventricular septal defect, Short stature, Delayed puberty ORPHA:3138
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Occipital meningocele, Disproportionate short stature, Broad neck, Short neck OMIM:276820
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Cardiomyopathy, Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Arrh... ORPHA:258
Beta-Thalassemia Major
High-output congestive heart failure, Dilated cardiomyopathy, Growth delay, Delayed puberty, Arrh... ORPHA:231214
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Edema, Myocarditis, Congestive heart failure, Vasc... ORPHA:2331
Dermatomyositis
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Edema, Periorbital edema, Myocar... ORPHA:221
Schwartz-Jampel Syndrome
Short stature, Polyhydramnios, Pulmonary arterial hypertension, Umbilical hernia, Arrhythmia ORPHA:800
Von Hippel-Lindau Disease
Myocardial infarction, Myocarditis, Macular edema, Abnormal left ventricular function, Cardiomyop... ORPHA:892
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid regurgitation, Severe short stature, Hydrocephalus, Dilated cardiomyopathy, Mitral valv... ORPHA:2556
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Disproportionate short stature, Atrioventricular block, Rhizomelic arm shortening, A... ORPHA:93317
Hennekam-Beemer Syndrome
Arrhythmia, Short stature, Telangiectasia of the skin, Hypotension ORPHA:2135
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Dehydration, Hypertension, Bradycardia, Hypotension, Arrhythmia,... ORPHA:94093
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Arrhythmia OMIM:273400
Botulism
Arrhythmia, Xerostomia ORPHA:1267
Foodborne Botulism
Arrhythmia, Xerostomia ORPHA:228371
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Arrhythmia ORPHA:480864
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ... ORPHA:900
Noonan Syndrome
Arrhythmia, Short stature, Abnormal pulmonary valve morphology, Lymphedema ORPHA:648
Familial Mediterranean Fever
Pericarditis, Myocardial infarction, Vasculitis, Pedal edema, Arrhythmia, Ascites ORPHA:342
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Arrhythmia, Short stature OMIM:171480
Costello Syndrome
Ventricular septal defect, Short stature, Polyhydramnios, Hydrocephalus, Mitral valve prolapse, P... OMIM:218040
African Trypanosomiasis
Abnormal EKG, Pericarditis, Myelopathy, Myocarditis, Congestive heart failure, Second degree atri... ORPHA:3385
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Arrhythmia, Short stature ORPHA:3220
Localized Scleroderma
Raynaud phenomenon, Arrhythmia, Vasculitis ORPHA:90289
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Hypertension, Arrhythmia, Ascites ORPHA:139411
Simpson-Golabi-Behmel Syndrome, Type 1
Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Hydrocephalus, Cardiomyopath... OMIM:312870
Cockayne Syndrome B
Severe short stature, Postnatal growth retardation, Hypertension, Normal pressure hydrocephalus, ... OMIM:133540
Cockayne Syndrome A
Short stature, Severe postnatal growth retardation, Hypertension, Normal pressure hydrocephalus, ... OMIM:216400
Genetic Recurrent Myoglobinuria
Arrhythmia ORPHA:99845
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Arrhythmia ORPHA:2878
Oculodentodigital Dysplasia
Atrial septal defect, Arrhythmia OMIM:164200
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Arrhythmia, Cerebral edema ORPHA:68
Leber Optic Atrophy
Arrhythmia OMIM:535000
Wiskott-Aldrich Syndrome
Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, Hematemesis, Vasculitis, In... ORPHA:906
Ivic Syndrome
Arrhythmia, Severe short stature ORPHA:2307
Spondylometaphyseal Dysplasia, Sedaghatian Type
Rhizomelia, Myocarditis, Disproportionate short stature, Atrial septal defect, Arrhythmia OMIM:250220
Leptospirosis
Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctival hemorrhage... ORPHA:509
Proteasome-Associated Autoinflammatory Syndrome 1
Short stature, Cardiomegaly, Congestive heart failure, Growth delay, Arrhythmia OMIM:256040
Autosomal Dominant Hypocalcemia
Congestive heart failure, Arrhythmia, Hypotension ORPHA:428
Plague
Tachycardia, Edema, Hematemesis, Endocarditis, Hypotension, Arrhythmia ORPHA:707
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Arrhythmia OMIM:106300
Stickler Syndrome
Arrhythmia, Short stature, Mitral valve prolapse ORPHA:828
Hypermobile Ehlers-Danlos Syndrome
Umbilical hernia, Arrhythmia ORPHA:285
Sarcoidosis
Abnormal cardiac ventricular function, Portal hypertension, Heart block, Ventricular tachycardia,... ORPHA:797
Ulnar-Mammary Syndrome
Arrhythmia, Ventricular septal defect, Delayed puberty OMIM:181450
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Arrhythmia ORPHA:163746

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 Hira

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 Hira.

There are 11 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The histone H3.3 chaperone HIRA restrains erythroid-biased differentiation of adult hematopoietic stem cells. Stem cell reports (July 2021) Hiratm1a(EUCOMM)Wtsi PMC8365107
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation. G3 (Bethesda, Md.) (June 2020) Hiratm1a(EUCOMM)Wtsi PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Hiratm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Hiratm1a(EUCOMM)Wtsi PMC6459510
Critical reappraisal of mechanistic links of copy number variants to dimensional constructs of neuropsychiatric disorders in mouse models. Psychiatry and clinical neurosciences (March 2018) Hiratm1a(EUCOMM)Wtsi 29369447
WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy. Proceedings of the National Academy of Sciences of the United States of America (October 2017) Hiratm1a(EUCOMM)Wtsi PMC5676932
HIRA deficiency in muscle fibers causes hypertrophy and susceptibility to oxidative stress. Journal of cell science (June 2017) Hiratm1c(EUCOMM)Wtsi Hiratm1a(EUCOMM)Wtsi 28600325
HIRA Is Required for Heart Development and Directly Regulates Tnni2 and Tnnt3. PloS one (August 2016) Hiratm1a(EUCOMM)Wtsi PMC4982693
Cardiomyocyte-specific conditional knockout of the histone chaperone HIRA in mice results in hypertrophy, sarcolemmal damage and focal replacement fibrosis. Disease models & mechanisms (March 2016) Hiratm1c(EUCOMM)Wtsi Hiratm1a(EUCOMM)Wtsi PMC4833330
Hira-mediated H3.3 incorporation is required for DNA replication and ribosomal RNA transcription in the mouse zygote. Developmental cell (July 2014) Hiratm1c(EUCOMM)Wtsi Hiratm1a(EUCOMM)Wtsi PMC4134436
Novel skin phenotypes revealed by a genome-wide mouse reverse genetic screen. Nature communications (April 2014) Hiratm1a(EUCOMM)Wtsi PMC3996542

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MGI Allele Allele Type Produced
Hiratm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Hiratm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells

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