Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

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

Download data as:  TSV  XLS

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Viewing: all phenotypes
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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

View all 243 images

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
Umbilical hernia, Tetralogy of Fallot, Intrauterine growth retardation, Abnormal pulmonary valve ... 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
Spinal dysraphism, Spina bifida ORPHA:3176
Frontal Encephalocele
Hydrocephalus, Encephalocele, Spina bifida ORPHA:1931
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy 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
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida, Mitral valve prolapse OMIM:211960
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Verheij Syndrome
Branchial cyst, Intrauterine growth retardation, Ventricular septal defect, Truncus arteriosus, S... OMIM:615583
X-Linked Mandibulofacial Dysostosis
Webbed neck, Branchial anomaly, Abnormal mitral valve morphology, Short stature, Pulmonic stenosis ORPHA:1131
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Anencephaly, Spina bifida, Ventricular septal defect ORPHA:2476
Branchiogenic-Deafness Syndrome
Short stature, Branchial fistula, Branchial cyst OMIM:609166
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9
Leukemia, Leukopenia OMIM:620400
Isolated Klippel-Feil Syndrome
Webbed neck, Congenital muscular torticollis, Low posterior hairline, Ventricular septal defect, ... ORPHA:2345
Thoraco-Abdominal Enteric Duplication
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia ORPHA:1759
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Tetralogy of Fallot, Intrauterine growth retardation, Situs inversus totalis, ... ORPHA:1908
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Severe postnatal growth retardation, Branchial cyst ORPHA:435938
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Congenital Vertical Talus
Myelomeningocele ORPHA:178382
Cardiac Conduction Defect
Arrhythmia, Syncope OMIM:115080
Wildervanck Syndrome
Low posterior hairline, Webbed neck, Meningocele, Short neck ORPHA:3456
Craniofacial Microsomia 2
Dermal sinus tract OMIM:620444
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, 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
Intrauterine growth retardation, Encephalocele, Ventricular septal defect, Hydrocephalus, Atrial ... OMIM:611134
Branchiootic Syndrome 1
Branchial fistula OMIM:602588
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Hydrocephalus ORPHA:588
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Branchiogenic Deafness Syndrome
Short stature, Branchial fistula, Branchial cyst ORPHA:50815
Subependymal Nodular Heterotopia
Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele ORPHA:101030
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Nathalie Syndrome
Short stature, Arrhythmia ORPHA:2663
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal heart morphology, Atrioventricular canal defect, Intrauterine growth retardation, Increa... ORPHA:453499
Humero-Radial Synostosis
Meningocele ORPHA:3265
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Left ventricular no... ORPHA:1344
Chiari Malformation Type Ii
Myelomeningocele, Hydrocephalus, Cervical myelopathy, Spina bifida OMIM:207950
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... ORPHA:168796
Triploidy
Intrauterine growth retardation, Short neck, Hydrocephalus, Abnormal cardiac septum morphology, M... ORPHA:3376
Schisis Association
Anencephaly, Encephalocele, Spina bifida ORPHA:63862
Diaphanospondylodysostosis
Myelomeningocele, Short neck ORPHA:66637
Intellectual Developmental Disorder, Autosomal Dominant 72
Short neck, Spina bifida OMIM:620439
Caudal Duplication
Myelomeningocele, Spina bifida ORPHA:1756
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Atrioventricular canal defect, Abnormal aortic valve morphology, Bicuspid aortic valve, Atrial se... ORPHA:1120
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Meckel Syndrome, Type 2
Intrauterine growth retardation, Encephalocele, Cystic hygroma, Meningocele, Anencephaly OMIM:603194
Branchiootic Syndrome
Branchial fistula ORPHA:52429
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Intrauterine growth retardation, Hydrocephalus, Short neck ORPHA:1914
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Holoprosencephaly
Spinal dysraphism, Tetralogy of Fallot, Branchial anomaly, Encephalocele, Abnormal pulmonary valv... ORPHA:2162
Bor Syndrome
Branchial cyst ORPHA:107
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co... ORPHA:75566
Camptodactyly Syndrome, Guadalajara Type 1
Short stature, Intrauterine growth retardation, Abnormality of dental eruption, Spina bifida ORPHA:1327
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida, Hydrocephalus, Thickened nuchal skin fold, Dextrocardia, Spina bi... ORPHA:2437
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Branchiootorenal Syndrome 1
Branchial fistula, Branchial cyst OMIM:113650
Alg3-Cdg
Cardiomyopathy, Neural tube defect ORPHA:79321
Sirenomelia
Sirenomelia, Spina bifida ORPHA:3169
Coronary Arterial Fistula
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria... ORPHA:2041
Developmental Delay, Language Impairment, And Ocular Abnormalities
Myelomeningocele, Short stature, Pulmonic stenosis OMIM:620141
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Intrauterine growth retardation, Ventricular septal defect, Truncus arteriosus... ORPHA:261330
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Autosomal Recessive Spondylocostal Dysostosis
Umbilical hernia, Intrauterine growth retardation, Short neck, Short stature, Spina bifida occult... ORPHA:2311
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Combined Oxidative Phosphorylation Deficiency 23
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Intrauterine growt... OMIM:616198
Distal 22Q11.2 Microduplication Syndrome
Webbed neck, Branchial fistula, Ventricular septal defect, Low posterior hairline, Tricuspid valv... ORPHA:261337
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Oligomeganephronia
Secundum atrial septal defect, Branchial cyst ORPHA:2260
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Growth delay OMIM:614424
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly ORPHA:63260
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... OMIM:608751
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Fliedner-Zweier Syndrome
Bicuspid aortic valve, Meningocele, Ventricular septal defect OMIM:620511
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Isolated Posterior Meningocele
Limitation of neck motion, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocel... ORPHA:268810
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Cardiac rhabdomyoma, Prolonged QRS complex, Suprav... ORPHA:45453
Neurocutaneous Melanocytosis
Meningocele ORPHA:2481
Spondylocostal Dysostosis 4, Autosomal Recessive
Broad neck, Myelomeningocele, Situs inversus totalis, Short neck, Hydrocephalus, Dextrocardia, Sh... OMIM:613686
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Arrhythm... ORPHA:154
Cerebrocostomandibular Syndrome
Webbed neck, Hydranencephaly, Myelomeningocele, Intrauterine growth retardation, Ventricular sept... ORPHA:1393
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Branchial anomaly ORPHA:466950
Enlarged Parietal Foramina
Myelomeningocele, Occipital encephalocele ORPHA:60015
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Ventricular septal d... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Abnormal heart morphology, Increased nuchal translucency, Branchial anomaly, Ventricular septal d... ORPHA:352665
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Short stature, Meningocele ORPHA:2031
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
Fountain Syndrome
Short stature, Spina bifida occulta, Spina bifida ORPHA:3219
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Left anterior fascicular block, Dilated cardiomyopathy, Reduced left ventricular ejection fractio... OMIM:181350
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure OMIM:192600
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Short stature, Arrhythmia OMIM:618453
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m... ORPHA:1345
Muscular Dystrophy, Becker Type
Arrhythmia, Cardiomyopathy, Abnormal EKG OMIM:300376
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Cardiomyopathy, Cardiomyocyte hypertrophy, Palpitations, Ventricular sep... ORPHA:263297
Phaver Syndrome
Myelomeningocele, Intrauterine growth retardation, Ventricular septal defect ORPHA:2876
Lateral Meningocele Syndrome
Umbilical hernia, Ventricular septal defect, Bicuspid aortic valve, Short neck, Hydrocephalus, Sh... OMIM:130720
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... OMIM:618052
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ... OMIM:612098
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Pelvis-Shoulder Dysplasia
Hydranencephaly, Mesomelic/rhizomelic limb shortening, Neonatal short-trunk short stature, Spina ... ORPHA:2839
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Spina bifida, Short neck OMIM:616038
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Pulmonary edema, Left bundle branch block, Ventricula... OMIM:115197
Lateral Meningocele Syndrome
Umbilical hernia, Ventricular septal defect, Low posterior hairline, Short neck, Meningocele ORPHA:2789
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P... ORPHA:1686
Mosaic Trisomy 9
Webbed neck, Abnormal heart valve morphology, Intrauterine growth retardation, Endocardial fibroe... ORPHA:99776
Treacher-Collins Syndrome
Patent ductus arteriosus, Branchial fistula, Encephalocele ORPHA:861
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Spinal dysraphism, Mitral stenosis, Atrial septal ... OMIM:617660
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Fixed Subaortic Stenosis
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... ORPHA:3092
Iniencephaly
Rhizomelia, Spinal dysraphism, Myelomeningocele, Encephalocele, Spina bifida, Hydrocephalus, Cyst... ORPHA:63259
Sick Sinus Syndrome 2
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... OMIM:163800
Classical-Like Ehlers-Danlos Syndrome Type 1
Spina bifida occulta, Gastrointestinal hemorrhage, Mitral valve prolapse, Arrhythmia ORPHA:230839
Tako-Tsubo Cardiomyopathy
Dilatation of the ventricular cavity, Mitral regurgitation, Pulmonary edema, Arrhythmia, Ventricu... ORPHA:66529
Cirrhotic Cardiomyopathy
Congestive heart failure, Ascites, Elevated pulmonary artery pressure, Ventricular arrhythmia, Pe... ORPHA:57777
Hydrops Fetalis
Generalized edema, Lymphedema, Ascites, Abnormal heart morphology, Pleural effusion, Nonimmune hy... ORPHA:1041
Acromelic Frontonasal Dysplasia
Meningocele, Encephalocele ORPHA:1827
Symmetrical Thalamic Calcifications
Polyhydramnios, Arrhythmia ORPHA:1314
8Q24.3 Microdeletion Syndrome
Infancy onset short-trunk short stature, Branchial cyst, Abnormal heart morphology, Atrioventricu... ORPHA:508488
Congenital Myopathy 5 With Cardiomyopathy
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Severely reduced left v... OMIM:611705
Leber Hereditary Optic Neuropathy
Arrhythmia, Retinal telangiectasia, Ventricular preexcitation ORPHA:104
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f... ORPHA:300751
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Abnormal heart valve morphology, Tricuspid regurgitation, Mitral valve pro... ORPHA:228410
Chromosome 17P13.1 Deletion Syndrome
Webbed neck, Broad neck, Umbilical hernia, Short neck, Hydrocephalus, Spina bifida OMIM:613776
Ebstein Malformation Of The Tricuspid Valve
Congestive heart failure, Cerebral ischemia, Right bundle branch block, Imperforate tricuspid val... ORPHA:1880
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Arrhythmia OMIM:300696
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Left ventricular hypertrophy, Arrhythmia, Wolff-Parkinson-White syndrom... OMIM:540000
Limb Body Wall Complex
Myelomeningocele, Abnormal heart morphology, Encephalocele, Short umbilical cord, Ventricular sep... ORPHA:2369
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Ped... ORPHA:99103
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Natal tooth, Branchial cyst, Intrauterine growth retardation, Patent foramen ovale, Atrial septal... OMIM:620186
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Postnatal growth retardation, Tricuspid regurgitation, Peripheral ed... ORPHA:75249
Sacral Defect With Anterior Meningocele
Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal sinus tract OMIM:600145
Trisomy 18
Webbed neck, Growth delay, Intrauterine growth retardation, Ventricular septal defect, Spina bifi... ORPHA:3380
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Congestive heart failure, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Oligohydr... ORPHA:1194
Vacterl With Hydrocephalus
Hydrocephalus, Aqueductal stenosis, Intrauterine growth retardation, Spina bifida ORPHA:3412
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Pleur... ORPHA:330001
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia ORPHA:85447
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Arrhythmia, Transposition of the great arteries, Paroxy... OMIM:617877
Dystonia 23
Arrhythmia OMIM:614860
Naxos Disease
Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ... ORPHA:34217
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Pagod Syndrome
Hypoplastic left heart, Situs inversus totalis, Encephalocele, Spina bifida, Short stature, Menin... ORPHA:991
Phakomatosis Pigmentokeratotica
Spina bifida ORPHA:2874
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block ORPHA:871
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Occipital meningocele, Short neck, Hydrocephalus, Atrial septal defect, Anencephaly OMIM:616546
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Hemochromatosis, Type 2A
Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure OMIM:602390
Fibular Hemimelia
Abnormal heart morphology, Spina bifida ORPHA:93323
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Atrioventricular canal defect, Intrauterine growth retardation, Bund... ORPHA:500
Dk1-Cdg
Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Interstitial cardiac... ORPHA:91131
Heterotaxy, Visceral, 1, X-Linked
Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Aqueductal steno... OMIM:306955
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Abnormal heart morphology, Abnormal electrophysio... ORPHA:398124
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Dilatation of the ventricular cavity, Rig... OMIM:609040
Lathosterolosis
Intrauterine growth retardation, Meningocele ORPHA:46059
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Arrhythmia, Atrial septal defe... OMIM:249270
Trisomy 20P
Low posterior hairline, Short neck, Spina bifida, Umbilical hernia ORPHA:261318
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Trisomy 8Q
Myelomeningocele, Short neck ORPHA:1752
Basal Cell Nevus Syndrome 1
Hydrocephalus, Cardiac rhabdomyoma, Spina bifida, Cardiac fibroma OMIM:109400
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Arrhythmia, Cardiomyopathy OMIM:612999
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Propionic Acidemia
Arrhythmia, Cardiomyopathy ORPHA:35
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Lower eyelid edema, Gastrointestinal hemorrhage, Congestive heart failure,... ORPHA:363705
Hec Syndrome
Cardiomyopathy, Endocardial fibroelastosis, Arrhythmia, Polyhydramnios, Communicating hydrocephalus ORPHA:2119
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Umbilical hernia, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Oligohydramnios, ... OMIM:614052
Nail-Patella Syndrome
Short stature, Spina bifida OMIM:161200
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Craniofacial Microsomia 1
Occipital encephalocele, Tetralogy of Fallot, Branchial anomaly, Ventricular septal defect, Hydro... OMIM:164210
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnorm... ORPHA:1055
Focal Dermal Hypoplasia
Umbilical hernia, Ventricular septal defect, Spina bifida, Abnormal cardiac septum morphology, Pa... ORPHA:2092
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Rhizomelic arm shortening, Rhizomelic leg shortening, Redundant neck ski... ORPHA:397715
Phocomelia, Schinzel Type
Short neck, Intrauterine growth retardation, Disproportionate short stature, Meningocele ORPHA:2879
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Neu-Laxova Syndrome 1
Broad neck, Hydranencephaly, Small placenta, Intrauterine growth retardation, Short umbilical cor... OMIM:256520
Branchiooculofacial Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Branchial anomaly, Low posterior h... OMIM:113620
Neu-Laxova Syndrome
Intrauterine growth retardation, Spina bifida ORPHA:2671
Waardenburg Syndrome
Myelomeningocele ORPHA:3440
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr... ORPHA:542306
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Bundle branch block, Presyncope, Transient ischemic attack, Palpitatio... ORPHA:99104
Vater/Vacterl Association
Occipital encephalocele, Tetralogy of Fallot, Postnatal growth retardation, Intrauterine growth r... OMIM:192350
Neurofibromatosis, Type I
Short stature, Aqueductal stenosis, Spina bifida, Hydrocephalus OMIM:162200
Jacobsen Syndrome
Aortic valve stenosis, Webbed neck, Hypoplastic left heart, Intrauterine growth retardation, Vent... ORPHA:2308
Hemochromatosis, Type 4
Arrhythmia, Cardiomyopathy OMIM:606069
Orofaciodigital Syndrome Vi
Short stature, Hypoplastic left heart, Occipital meningocele OMIM:277170
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Truncus arteriosus... ORPHA:508498
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Atrioventricular canal defect, Patent ductus arteriosus, Spina bifida, Torticollis OMIM:619480
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Hypertension, Cardiomyopathy ORPHA:3222
Hemochromatosis, Type 1
Cardiomyopathy, Congestive heart failure, Ascites, Pleural effusion, Cardiomegaly, Telangiectasia... OMIM:235200
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Dilated cardiomyopathy, Abnormal atrioventricular conduc... ORPHA:732
Subaortic Stenosis-Short Stature Syndrome
Short stature, Membranous subvalvular aortic stenosis, Subvalvular aortic stenosis, Arrhythmia ORPHA:3191
Noonan Syndrome 5
Hypertrophic cardiomyopathy, Polyhydramnios, Arrhythmia, Atrial septal defect, Short stature, Pul... OMIM:611553
Fabry Disease
Lymphedema, Congestive heart failure, Transient ischemic attack, Ventricular septal hypertrophy, ... OMIM:301500
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Arrhythmia ORPHA:1808
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Patent foramen ovale, Ventricular septal defect, ... ORPHA:26793
Rheumatic Fever
Epistaxis, Abnormal heart valve morphology, Abnormal aortic valve morphology, Abnormal mitral val... ORPHA:3099
Fanconi Anemia
Umbilical hernia, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Intrauterine growth retardati... ORPHA:84
Hallermann-Streiff Syndrome
Natal tooth, Spina bifida, Proportionate short stature OMIM:234100
American Trypanosomiasis
Cardiomyopathy, Congestive heart failure, Arrhythmia, Myocarditis, Periorbital edema, Edema ORPHA:3386
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Holoprosencephaly, Occipita... OMIM:610828
Congenital Muscular Dystrophy Due To Lmna Mutation
Arrhythmia, Congestive heart failure ORPHA:157973
Infantile Refsum Disease
Short stature, Arrhythmia, Cardiomyopathy ORPHA:772
Al Amyloidosis
Abnormal cardiac ventricle morphology, Gastrointestinal hemorrhage, Xerostomia, Postural hypotens... ORPHA:85443
Systemic Capillary Leak Syndrome
Hypotension, Pleural effusion, Pulmonary edema, Arrhythmia, Myocarditis, Pedal edema, Pericarditis ORPHA:188
Mitochondrial Dna Depletion Syndrome 11
Arrhythmia, Dilated cardiomyopathy OMIM:615084
Witteveen-Kolk Syndrome
Short stature, Intrauterine growth retardation, Branchial fistula, Growth delay OMIM:613406
Chromosome 2Q37 Deletion Syndrome
Short stature, Arrhythmia, Subvalvular aortic stenosis OMIM:600430
Isolated Atp Synthase Deficiency
Short stature, Arrhythmia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy ORPHA:254913
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Syncope, Ventricular fibrillation, Prolonged QTc interval ORPHA:90647
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
Refsum Disease, Classic
Cardiomegaly, Arrhythmia, Cardiomyopathy, Congestive heart failure OMIM:266500
22Q11.2 Deletion Syndrome
Umbilical hernia, Tetralogy of Fallot, Intrauterine growth retardation, Abnormal pulmonary valve ... ORPHA:567
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Arrhythmia, Dilated cardiomyopathy ORPHA:352447
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Short stature, Arrhythmia ORPHA:2928
Carnitine Palmitoyl Transferase 1A Deficiency
Hypertrophic cardiomyopathy, Arrhythmia, Sudden cardiac death ORPHA:156
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Semilobar Holoprosencephaly
Abnormal heart morphology, Hydrocephalus, Short stature, Growth delay, Neural tube defect ORPHA:220386
Alobar Holoprosencephaly
Abnormal heart morphology, Hydrocephalus, Short stature, Growth delay, Neural tube defect ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Abnormal heart morphology, Hydrocephalus, Short stature, Growth delay, Neural tube defect ORPHA:93926
Lobar Holoprosencephaly
Abnormal heart morphology, Hydrocephalus, Short stature, Growth delay, Neural tube defect ORPHA:93924
Barth Syndrome
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgit... OMIM:302060
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Intrauterine growth retardation, Mitral regurgitation, Ventricular septal d... ORPHA:254346
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure ORPHA:85446
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Arrhythmia, Cardiomyopathy, Bradycardia OMIM:609286
Thrombocytopenia-Absent Radius Syndrome
Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe... OMIM:274000
Campomelic Dysplasia
Neonatal short-limb short stature, Spinal dysraphism, Disproportionate short-limb short stature, ... OMIM:114290
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomegaly, Arrhythmia ORPHA:42
Koolen-De Vries Syndrome Due To A Point Mutation
Cardiomyopathy, Abnormal heart morphology, Postnatal growth retardation, Ventricular septal defec... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cardiomyopathy, Abnormal heart morphology, Postnatal growth retardation, Ventricular septal defec... ORPHA:363958
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Arrhythmia OMIM:616516
Aicardi Syndrome
Postnatal growth retardation, Spina bifida OMIM:304050
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Abnormal EKG, Congestive heart failure, Arrhythmia OMIM:310200
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... ORPHA:3193
Ataxia With Vitamin E Deficiency
Hypertrophic cardiomyopathy, Arrhythmia ORPHA:96
Knobloch Syndrome 1
Spina bifida occulta, Occipital encephalocele, Patent ductus arteriosus, Occipital meningocele OMIM:267750
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Arrhythmia ORPHA:99944
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Pleural effusion, Pulmonary edema, Arrhy... ORPHA:542323
Liddle Syndrome
Arrhythmia, Cerebral ischemia, Hypertension ORPHA:526
Ogden Syndrome
Postnatal growth retardation, Arrhythmia, Cardiogenic shock, Ventricular septal defect ORPHA:276432
Exstrophy-Epispadias Complex
Abnormal heart morphology, Hydrocephalus, Spina bifida ORPHA:322
Femoral-Facial Syndrome
Encephalocele, Ventricular septal defect, Truncus arteriosus, Spina bifida, Short stature, Patent... OMIM:134780
Thrombotic Thrombocytopenic Purpura
Arrhythmia, Myocardial infarction ORPHA:54057
Arima Syndrome
Occipital meningocele, Growth delay OMIM:243910
Ogden Syndrome
Torsade de pointes, Postnatal growth retardation, Ventricular septal defect, Pulmonary edema, Bic... OMIM:300855
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Cardiac arrest, Arrhythmia, Growth delay ORPHA:168593
Cutis Laxa, Autosomal Recessive, Type Ib
Right ventricular dilatation, Spina bifida, Neonatal death OMIM:614437
Otopalatodigital Syndrome, Type Ii
Umbilical hernia, Postnatal growth retardation, Short neck, Spina bifida, Hydrocephalus, Stillbir... OMIM:304120
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Postnatal growth retardation, Intrauterine growth retardation, Patent foramen ovale, Arrhythmia, ... OMIM:619184
Mucopolysaccharidosis Type 2
Cardiomyopathy, Umbilical hernia, Abnormal heart morphology, Abnormal heart valve morphology, Abn... ORPHA:580
Fabry Disease
Atrioventricular block, Lymphedema, Hypertrophic cardiomyopathy, Bundle branch block, Transient i... ORPHA:324
Typhoid
Gastrointestinal hemorrhage, Cardiac arrest, Arrhythmia, Epistaxis ORPHA:99745
Kearns-Sayre Syndrome
Short stature, Arrhythmia, Third degree atrioventricular block, Cardiomyopathy OMIM:530000
Holoprosencephaly 9
Alobar holoprosencephaly, Short neck, Hydrocephalus, Short stature, Holoprosencephaly, Occipital ... OMIM:610829
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Arrhythmia, Mildly reduced left ventricular ejection fraction OMIM:618098
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Tetralogy of Fallot, Ventricular se... OMIM:153400
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Congestive heart failure, Portal hypertension, Joint swelling, Cardiomegaly, Arrh... ORPHA:465508
Rubinstein-Taybi Syndrome 1
Hypoplastic left heart, Postnatal growth retardation, Mitral valve prolapse, Ventricular septal d... OMIM:180849
Acquired Methemoglobinemia
Tachycardia, Arrhythmia, Palpitations, Syncope ORPHA:464453
Familial Multiple Nevi Flammei
Arrhythmia, Pulmonary embolism, Intracranial hemorrhage, Edema ORPHA:624
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Arrhythmia, Cardiomyopathy ORPHA:228305
Spontaneous Periodic Hypothermia
Arrhythmia ORPHA:29822
Marfan Syndrome
Tricuspid valve prolapse, Meningocele, Mitral valve calcification, Mitral valve prolapse ORPHA:558
Singleton-Merten Syndrome 2
Short stature, Aortic valve stenosis, Arrhythmia, Aortic valve calcification OMIM:616298
Heart-Hand Syndrome Type 2
Arrhythmia ORPHA:1350
Mitochondrial Trifunctional Protein Deficiency 1
Arrhythmia, Hydrops fetalis, Congestive heart failure, Dilated cardiomyopathy OMIM:609015
Multiple Acyl-Coa Dehydrogenase Deficiency
Abnormal heart morphology, Arrhythmia, Cardiomyopathy, Congestive heart failure ORPHA:26791
Spinocerebellar Ataxia, Autosomal Recessive 33
Arrhythmia OMIM:620208
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia OMIM:616949
Legionnaires Disease
Hypotension, Arrhythmia, Myocarditis, Endocarditis, Pericarditis ORPHA:549
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai... ORPHA:1478
Scorpion Envenomation
Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Cardiac condu... ORPHA:466677
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomyopathy, Cardiomegaly, Arrhythmia, Abnormal myocardium morphology, Hydrocephalus, Heart block ORPHA:228308
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Arrhythmia, Cerebral ischemia, Hydrocephalus ORPHA:60040
Mgat2-Cdg
Abnormal heart morphology, Ventricular septal defect, Arrhythmia, Hydrops fetalis, Patent ductus ... ORPHA:79329
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Umbilical hernia, Abnormal heart morphology, Short neck, Neural tube d... ORPHA:798
Mucopolysaccharidosis Type 2, Severe Form
Cardiomyopathy, Umbilical hernia, Abnormal heart valve morphology, Abnormal pulmonary valve morph... ORPHA:217085
Mitochondrial Trifunctional Protein Deficiency
Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Mitral regurgitation, Left ven... ORPHA:746
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Arrhythmia, Ventricular tachycardia, Cardiomyopathy ORPHA:159
Mucopolysaccharidosis Type 2, Attenuated Form
Cardiomyopathy, Umbilical hernia, Abnormal heart valve morphology, Abnormal pulmonary valve morph... ORPHA:217093
Lyme Disease
Arrhythmia, Joint swelling, Atrioventricular block ORPHA:91546
Giant Cell Arteritis
Vasculitis, Epistaxis, Double outlet right ventricle with subpulmonary ventricular septal defect ... ORPHA:397
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Arrhythmia, Dehydration, Proportionate short stature ORPHA:171876
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Arrhythmia, Patent ductus arteriosus ORPHA:33001
Microscopic Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Arrhythmia, Pericar... ORPHA:727
Carnitine Palmitoyltransferase I Deficiency
Cardiomegaly, Arrhythmia OMIM:255120
Oculodentodigital Dysplasia
Arrhythmia, Ventricular septal defect, Umbilical hernia ORPHA:2710
Oeis Complex
Myelomeningocele, Hydrocephalus OMIM:258040
Agel Amyloidosis
Xerostomia, Cardiomyopathy, Blepharochalasis, Orthostatic hypotension due to autonomic dysfunctio... ORPHA:85448
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Histiocytoid cardiomyopathy, Ventricular septal defect, Overridin... OMIM:309801
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Oligohydramnios, Cardiomegaly, Arrhythmia, Antenatal intracerebral hemorr... OMIM:608836
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Hypertrophic cardiomyopathy, Arrhythmia, Growth delay OMIM:615471
Ileal Neuroendocrine Tumor
Hypotension, Cardiogenic shock, Right ventricular failure, Edema, Arterial occlusion, Palpitation... ORPHA:100078
Juvenile Dermatomyositis
Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Angina pectoris, Ar... ORPHA:93672
Erythrokeratodermia Variabilis Et Progressiva 6
Arrhythmia OMIM:618531
Kleefstra Syndrome
Tetralogy of Fallot, Ventricular septal defect, Bicuspid aortic valve, Arrhythmia, Short stature ORPHA:261494
Specc1L-Related Hypertelorism Syndrome
Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect, Arrhythmia, Atrial septal defec... ORPHA:1519
Colchicine Poisoning
Hypotension, Cardiogenic shock, Congestive heart failure, Arrhythmia, Myocarditis, Dehydration, H... ORPHA:31824
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Short stature, Arrhythmia ORPHA:3201
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventricula... ORPHA:254892
Carnitine Palmitoyltransferase Ii Deficiency
Arrhythmia, Hydrocephalus, Cardiomyopathy ORPHA:157
16P11.2P12.2 Microdeletion Syndrome
Short stature, Tricuspid regurgitation, Intrauterine growth retardation, Arrhythmia ORPHA:261211
Dominant Beta-Thalassemia
Dilated cardiomyopathy, High-output congestive heart failure, Arrhythmia, Delayed puberty, Growth... ORPHA:231226
Noonan Syndrome
Lymphedema, Hypertrophic cardiomyopathy, Postnatal growth retardation, Delayed menarche, Abnormal... ORPHA:648
Familial Isolated Hypoparathyroidism
Short stature, Arrhythmia ORPHA:2238
Primary Triglyceride Deposit Cardiomyovasculopathy
Coronary artery stenosis, Cardiomyopathy, Abnormal cardiomyocyte morphology, Palpitations, Angina... ORPHA:565612
Glycogen Storage Disease Due To Aldolase A Deficiency
Arrhythmia, Growth delay ORPHA:57
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Alternating Hemiplegia Of Childhood
Cardiomyopathy, Abnormal T-wave, Cardiac conduction abnormality, Arrhythmia, Dehydration ORPHA:2131
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Arrhythmia, Ventricular bigeminy, Left bundle branch block OMIM:610131
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Broad neck, Short neck, Disproportionate short stature, Occipital meningocele OMIM:276820
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Cardiomyopathy, Reduced left ventricular ejection fraction, Arrhythmia, Pulmonary arterial hypert... ORPHA:258
Ulnar-Mammary Syndrome
Short stature, Arrhythmia, Delayed puberty, Ventricular septal defect ORPHA:3138
Microphthalmia With Linear Skin Defects Syndrome
Severe short stature, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Tricuspid regurgitatio... ORPHA:2556
Beta-Thalassemia Major
Dilated cardiomyopathy, High-output congestive heart failure, Arrhythmia, Delayed puberty, Growth... ORPHA:231214
Hyperkalemic Periodic Paralysis
Arrhythmia, Congestive heart failure ORPHA:682
Schwartz-Jampel Syndrome
Umbilical hernia, Polyhydramnios, Arrhythmia, Pulmonary arterial hypertension, Short stature ORPHA:800
Von Hippel-Lindau Disease
Macular edema, Cardiomyopathy, Palpitations, Arrhythmia, Myocarditis, Abnormal left ventricular f... ORPHA:892
Hennekam-Beemer Syndrome
Short stature, Hypotension, Arrhythmia, Telangiectasia of the skin ORPHA:2135
Spondylometaphyseal Dysplasia, Sedaghatian Type
Atrioventricular block, Disproportionate short stature, Rhizomelic arm shortening, Arrhythmia, My... ORPHA:93317
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Pulmonary embolism, Arrhythmia, Bradycardia, Tachycardia, Hyper... ORPHA:94093
Botulism
Arrhythmia, Xerostomia ORPHA:1267
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Arrhythmia OMIM:273400
Foodborne Botulism
Arrhythmia, Xerostomia ORPHA:228371
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Arrhythmia, Abnormal EKG ORPHA:480864
Granulomatosis With Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Cerebral ischemia, Hypertension, Angina pecto... ORPHA:900
Kawasaki Disease
Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal defect without pul... ORPHA:2331
Costello Syndrome
Hypertrophic cardiomyopathy, Polyhydramnios, Mitral valve prolapse, Ventricular septal defect, Ar... OMIM:218040
African Trypanosomiasis
Myelopathy, Third degree atrioventricular block, Second degree atrioventricular block, Congestive... ORPHA:3385
Familial Mediterranean Fever
Vasculitis, Ascites, Arrhythmia, Myocardial infarction, Pedal edema, Pericarditis ORPHA:342
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Short stature, Arrhythmia ORPHA:3220
Localized Scleroderma
Vasculitis, Arrhythmia, Raynaud phenomenon ORPHA:90289
Carney Triad
Gastrointestinal hemorrhage, Ascites, Arrhythmia, Tachycardia, Hypertension ORPHA:139411
Dermatomyositis
Vasculitis, Sinus tachycardia, Arrhythmia, Pulmonary arterial hypertension, Telangiectasia of the... ORPHA:221
Cockayne Syndrome B
Severe short stature, Postnatal growth retardation, Intrauterine growth retardation, Arrhythmia, ... OMIM:133540
Cockayne Syndrome A
Intrauterine growth retardation, Severe postnatal growth retardation, Arrhythmia, Short stature, ... OMIM:216400
Simpson-Golabi-Behmel Syndrome, Type 1
Total anomalous pulmonary venous return, Cardiomyopathy, Umbilical hernia, Right ventricular hype... OMIM:312870
Genetic Recurrent Myoglobinuria
Arrhythmia ORPHA:99845
Oculodentodigital Dysplasia
Arrhythmia, Atrial septal defect OMIM:164200
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Arrhythmia ORPHA:2878
Leber Optic Atrophy
Arrhythmia OMIM:535000
Wiskott-Aldrich Syndrome
Vasculitis, Hematochezia, Epistaxis, Recurrent intrapulmonary hemorrhage, Arrhythmia, Hematemesis... ORPHA:906
Amoebiasis Due To Free-Living Amoebae
Cerebral edema, Arrhythmia, Myocardial necrosis ORPHA:68
Ivic Syndrome
Severe short stature, Arrhythmia ORPHA:2307
Spondylometaphyseal Dysplasia, Sedaghatian Type
Rhizomelia, Disproportionate short stature, Arrhythmia, Atrial septal defect, Myocarditis OMIM:250220
Hypermobile Ehlers-Danlos Syndrome
Epistaxis, Umbilical hernia, Mitral valve prolapse, Arrhythmia, Raynaud phenomenon ORPHA:285
Leptospirosis
Hypotension, Pulmonary hemorrhage, Pleural effusion, Arrhythmia, First degree atrioventricular bl... ORPHA:509
Proteasome-Associated Autoinflammatory Syndrome 1
Congestive heart failure, Cardiomegaly, Arrhythmia, Short stature, Growth delay OMIM:256040
Autosomal Dominant Hypocalcemia
Hypotension, Arrhythmia, Congestive heart failure ORPHA:428
Plague
Hypotension, Arrhythmia, Hematemesis, Tachycardia, Endocarditis, Edema ORPHA:707
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Arrhythmia OMIM:106300
Stickler Syndrome
Short stature, Arrhythmia, Mitral valve prolapse ORPHA:828
Sarcoidosis
Chylothorax, Pleural effusion, Joint swelling, Portal hypertension, Arrhythmia, Abnormal cardiac ... ORPHA:797
Ulnar-Mammary Syndrome
Arrhythmia, Delayed puberty, Ventricular septal defect 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