Registered for phenotyping at IMPC

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

Gene Summary

Name:
protocadherin alpha 9
Synonyms:
N/A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Pcdha9 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Pcdha9 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Aortic Valve Disease 3
Aortic root aneurysm, Aortic valve stenosis, Atrial septal defect, Bicuspid aortic valve OMIM:618496
Aortic Valve Disease 2
Coarctation of aorta, Calcification of the aorta, Aortic aneurysm, Bicuspid aortic valve OMIM:614823
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Ventricular sept... OMIM:614980
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... OMIM:617912
Aortic Aneurysm, Familial Thoracic 4
Ascending aortic dissection, Patent ductus arteriosus, Posterior cerebral artery stenosis, Corona... OMIM:132900
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve ORPHA:228190
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Patent ductus arteriosus, Bicuspid aortic valve, Coarctation of aorta, Transp... OMIM:612474
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve OMIM:604381
Megabladder, Congenital
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, P... OMIM:618719
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Periventricular Nodular Heterotopia 1
Patent ductus arteriosus, Bicuspid aortic valve OMIM:300049
Aortic Valve Disease 1
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... OMIM:109730
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Bicuspid aortic valve, Coarctation of aorta, Dilated cardiomyopathy,... OMIM:613426
Supravalvular Aortic Stenosis
Pulmonic stenosis, Peripheral arterial stenosis, Pulmonary artery stenosis OMIM:185500
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Ventricular hypertrophy, Abnormal heart valve morphology, Ab... ORPHA:3400
Ethanolaminosis
Cardiomegaly OMIM:227150
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Patent ductus arteriosus, Dou... OMIM:618845
Atrial Septal Defect 1
Atrial septal defect, Atrial septal dilatation, Ventricular septal defect, Secundum atrial septal... OMIM:108800
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Patent ductus arteriosus, Coronary... ORPHA:229
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Familial Bicuspid Aortic Valve
Abnormal left ventricular outflow tract morphology, Thoracic aorta calcification, Coarctation of ... ORPHA:402075
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Pulmonary artery atresia, Per... ORPHA:1209
Heparin Cofactor Ii Deficiency
Post-angioplasty coronary artery restenosis OMIM:612356
Aortic Aneurysm, Familial Thoracic 8
Coronary artery aneurysm, Coronary artery dissection, Descending aortic dissection, Ascending aor... OMIM:615436
Factor V Excess With Spontaneous Thrombosis
Peripheral arterial stenosis OMIM:134400
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic... ORPHA:1455
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Dextrocardia, Right aortic arch with mirror image branching, Pulmo... OMIM:606217
Partial Atrioventricular Septal Defect
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Coarctation of aorta, Pat... ORPHA:1330
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Aortic aneurysm, Premature coronary artery atherosclerosis, Thoracic aortic ... OMIM:611788
Hypoalphalipoproteinemia, Primary, 1
Premature coronary artery atherosclerosis OMIM:604091
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus, Bicuspid aortic valve OMIM:613355
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... OMIM:618780
Moyamoya Disease 5
Moyamoya phenomenon, Ascending tubular aorta aneurysm OMIM:614042
Ventricular Septal Defect 3
Atrial septal defect, Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect OMIM:614432
Mental Retardation, Autosomal Recessive 40
Bicuspid aortic valve OMIM:615599
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrocardia, Right aortic arch, Ventricular septal defect OMIM:613751
Grange Syndrome
Carotid artery stenosis, Coronary artery stenosis, Renal artery stenosis, Bicuspid aortic valve OMIM:602531
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Atrial septal defect, Bicuspid aortic valve OMIM:615981
Aortic Aneurysm, Familial Thoracic 10
Coronary artery atherosclerosis, Bicuspid aortic valve, Aortic root aneurysm, Abdominal aortic an... OMIM:617168
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection OMIM:617349
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Patent ductus arteriosus, Coronary... ORPHA:91387
Chronic Atrial And Intestinal Dysrhythmia
Pulmonic stenosis, Bicuspid aortic valve OMIM:616201
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Abnormal heart morphology, Coarctation of aor... ORPHA:284169
Distal Trisomy 14Q
Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Coarctation of aorta, Abnormal aortic va... ORPHA:1120
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Retinal arteriolar constriction, Peripheral arterial stenosis OMIM:124950
Mass Syndrome
Mitral valve prolapse, Aortic aneurysm OMIM:604308
Grange Syndrome
Patent ductus arteriosus, Arterial stenosis, Ventricular septal defect ORPHA:79094
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Pericardial And Diaphragmatic Defect
Partial diaphragmatic absence of pericardium, Atrial septal defect, Abnormal heart morphology, Pa... ORPHA:2847
Isotretinoin-Like Syndrome
Abnormality of the pulmonary veins, Abnormal aortic arch morphology, Patent ductus arteriosus, Ao... ORPHA:2306
Cardiac Valvular Dysplasia, X-Linked
Mitral valve prolapse, Short chordae tendineae of the mitral valve, Short chordae tendineae of th... OMIM:314400
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Abnormal cardiac septum morphology, Patent ductus arteriosus, Coarctation of aorta OMIM:601612
Stiff Skin Syndrome
Bicuspid aortic valve OMIM:184900
Retinitis Pigmentosa 89
Hepatosplenomegaly, Bicuspid aortic valve OMIM:618955
Lessel-Kreienkamp Syndrome
Atrial septal defect, Patent ductus arteriosus, Pulmonic stenosis, Bicuspid aortic valve, Patent ... OMIM:619149
Cantu Syndrome
Pericardial effusion, Patent ductus arteriosus, Congenital hypertrophy of left ventricle, Cardiom... OMIM:239850
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Ventricular septal defect, Paten... OMIM:610338
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Peripheral arterial stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:126320
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Bicuspid aortic valve ORPHA:397951
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Dou... ORPHA:477817
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Ventricular septal defect, Hypoplastic left heart, Mitral atresia OMIM:614435
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Patent ductus arteriosu... ORPHA:210122
Hypoplastic Left Heart Syndrome
Atrial septal defect, Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplas... ORPHA:2248
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... OMIM:217095
Loeys-Dietz Syndrome 4
Arterial tortuosity, Aortic tortuosity, Aortic dissection, Bicuspid aortic valve, Aortic root ane... OMIM:614816
Schuurs-Hoeijmakers Syndrome
Patent foramen ovale, Abnormal cardiac septum morphology, Patent ductus arteriosus, Bicuspid aort... OMIM:615009
Aortic Aneurysm, Familial Thoracic 9
Thoracic aortic aneurysm, Mitral valve prolapse, Aortic tortuosity, Ascending aortic dissection OMIM:616166
Sitosterolemia 2
Premature coronary artery atherosclerosis OMIM:618666
Paget Disease Of Bone 6
Left ventricular hypertrophy, Coronary artery atherosclerosis OMIM:616833
Weiss-Kruszka Syndrome
Ventricular septal defect, Dextrotransposition of the great arteries, Left ventricular hypertroph... OMIM:618619
Pancytopenia And Occlusive Vascular Disease
Peripheral arterial stenosis OMIM:167850
Congenital Aortic Valve Stenosis
Aortic valve atresia, Endocarditis, Endocardial fibroelastosis, Thoracic aortic aneurysm, Aortic ... ORPHA:3093
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Abnormal heart morphology, Patent ductus arteriosus, Bicuspid aortic v... ORPHA:500159
Oculogastrointestinal Neurodevelopmental Syndrome
Bicuspid aortic valve OMIM:619318
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Cerebral artery atherosclerosis, Arterial stenosis, Coronary artery atherosclerosis, Abnormal mit... ORPHA:1192
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Double outlet right ventri... ORPHA:371428
Fibromuscular Dysplasia, Arterial
Arterial fibromuscular dysplasia, Aortic dissection OMIM:135580
16P13.11 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Patent ductus arteriosus, Bicuspid aortic valve OMIM:243310
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Bicuspid aortic valve,... ORPHA:329224
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Abnormal aortic morphology, Abnormal tricuspid valve morphology ORPHA:3405
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Abnormal aortic valve morpholog... ORPHA:3287
Arterial Calcification, Generalized, Of Infancy, 1
Coronary artery calcification, Arterial stenosis, Generalized arterial calcification OMIM:208000
Diamond-Blackfan Anemia 11
Bicuspid aortic valve OMIM:614900
Robinow Syndrome, Autosomal Recessive 2
Bicuspid aortic valve OMIM:618529
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis OMIM:217085
Contractural Arachnodactyly, Congenital
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Aortic root aneurysm, ... OMIM:121050
Familial Atrial Myxoma
Vascular dilatation, Cardiac myxoma, Pulmonic valve myxoma, Dilatation of the cerebral artery, Ca... ORPHA:615
Loeys-Dietz Syndrome 1
Descending thoracic aorta aneurysm, Arterial tortuosity, Atrial septal defect, Patent ductus arte... OMIM:609192
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Aortic dissection, Mucoid extracellular matrix accumulation, Aortic aneurysm, Myxomatous mitral v... OMIM:130090
Loeys-Dietz Syndrome 2
Descending thoracic aorta aneurysm, Carotid artery dilatation, Atrial septal defect, Arterial tor... OMIM:610168
Truncus Arteriosus
Abnormal coronary artery morphology, Patent ductus arteriosus, Cardiomegaly, Pulmonary artery ste... ORPHA:3384
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Peripheral pulmonary artery stenosis, Bicuspid aortic valve OMIM:300707
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
9Q31.1Q31.3 Microdeletion Syndrome
Dilated cardiomyopathy, Bicuspid aortic valve ORPHA:401923
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Ventricul... OMIM:208530
Kleefstra Syndrome
Ventricular septal defect, Bicuspid aortic valve, Pulmonary artery stenosis, Coarctation of aorta... ORPHA:261494
Squalene Synthase Deficiency
Bicuspid aortic valve OMIM:618156
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve OMIM:616367
Gaucher Disease, Type Iiic
Calcification of the aorta, Mitral valve calcification, Hepatomegaly, Cardiomegaly, Mitral stenos... OMIM:231005
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Left ventricular hypertrophy, Pulmonary... OMIM:108900
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology, Cardiomyopathy ORPHA:3222
X Small Rings
Aortic root aneurysm, Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve ORPHA:96201
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal heart morphology, Patent ductus arteriosus, Pulmonic stenosis, Double outlet right ventr... OMIM:618164
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormality of the pulmonary artery, Tetralogy of Fallot, Abnormal aortic morphology, Ventricular... ORPHA:1166
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Misalignment of the pulmonary veins, Patent ductus arteriosus, Pulmonary artery stenosis, Patent ... OMIM:265380
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Ventricula... ORPHA:99050
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Bicuspid aortic valve... ORPHA:457279
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Aortic root aneurysm, Cardiomegaly, Left ventricular hypertrophy, Bicuspid ... OMIM:245600
Syndromic Diarrhea
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Patent ductus arterio... ORPHA:84064
Loeys-Dietz Syndrome 3
Arterial tortuosity, Atrial septal defect, Ventricular hypertrophy, Aortic tortuosity, Aortic ane... OMIM:613795
Storm Syndrome
Mitral valve calcification, Aortic valve stenosis, Early progressive calcific cardiac valvular di... OMIM:185069
Adams-Oliver Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Hypopl... OMIM:100300
Phace Association
Arterial stenosis, Ventricular septal defect, Patent ductus arteriosus, Vascular dilatation, Coar... OMIM:606519
Methimazole Embryofetopathy
Abnormal aortic morphology, Coarctation of aorta, Ventricular septal defect ORPHA:1923
Koolen-De Vries Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Aortic root aneurysm, ... OMIM:610443
Lateral Meningocele Syndrome
Patent ductus arteriosus, Bicuspid aortic valve OMIM:130720
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Bicuspid aortic valve... ORPHA:453499
Transaldolase Deficiency
Coarctation of aorta, Atrial septal defect, Hepatosplenomegaly, Biventricular hypertrophy ORPHA:101028
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Endocardial fibroelastosis, Cardiomyopathy OMIM:226100
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Timothy Syndrome
Ventricular septal defect, Patent ductus arteriosus, Cardiomegaly, Patent foramen ovale, Tetralog... OMIM:601005
Sneddon Syndrome
Arterial stenosis ORPHA:820
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Bic... OMIM:610759
Autosomal Dominant Cutis Laxa
Abnormal heart valve morphology, Pulmonic stenosis, Aortic aneurysm ORPHA:90348
Periventricular Nodular Heterotopia
Abnormal heart valve morphology, Patent ductus arteriosus, Aortic aneurysm ORPHA:98892
Koolen-De Vries Syndrome
Abnormal cardiac septum morphology, Bicuspid aortic valve ORPHA:96169
Familial Cerebral Saccular Aneurysm
Abnormal circle of Willis morphology, Cerebral berry aneurysm, Atherosclerosis, Aortic root aneur... ORPHA:231160
Hypermethioninemia Due To Adenosine Kinase Deficiency
Pulmonic stenosis, Atrial septal defect, Coarctation of aorta OMIM:614300
Distal Monosomy 15Q
Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary steno... ORPHA:1596
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Abnormal aortic morphology, Hypoplastic left heart, Patent ductus arteriosus ORPHA:2001
Psychomotor Retardation, Epilepsy, And Craniofacial Dysmorphism
Aortic valve stenosis, Bicuspid aortic valve OMIM:614501
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Dextrocardia, Left superior vena cava draining to cor... ORPHA:185
Tangier Disease
Atherosclerosis, Coronary artery atherosclerosis, Hepatomegaly, Left ventricular hypertrophy, Spl... OMIM:205400
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Truncus arteriosus, Ventricular septal defect ORPHA:2516
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta,... ORPHA:261183
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Truncus arteriosus, Ventricular septal defect, Coarctation of aorta, Perimembranous ventricular s... ORPHA:508498
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic valve calcification, Aortic valve stenosis OMIM:114065
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy OMIM:617713
Marfan Syndrome
Aortic dissection, Bicuspid aortic valve, Mitral annular calcification, Aortic root aneurysm, Tri... OMIM:154700
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Abnormal common carotid artery morphol... ORPHA:449400
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Cardiomegaly, Patent f... OMIM:618652
Noonan Syndrome 9
Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect OMIM:616559
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Bicuspid aortic valve... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Bicuspid aortic valve... ORPHA:352665
Hunter-Macdonald Syndrome
Mitral valve prolapse, Patent ductus arteriosus, Bicuspid aortic valve OMIM:611962
Kyphoscoliotic Ehlers-Danlos Syndrome
Dextrocardia, Aortic aneurysm, Bicuspid aortic valve ORPHA:536545
Double Outlet Right Ventricle
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Double outlet right ventricle, ... ORPHA:3426
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Frontometaphyseal Dysplasia 2
Patent foramen ovale, Pulmonic stenosis, Patent ductus arteriosus, Bicuspid aortic valve OMIM:617137
Dysbetalipoproteinemia
Accelerated atherosclerosis, Premature coronary artery atherosclerosis, Aortic atherosclerotic le... ORPHA:412
Mental Retardation, Autosomal Dominant 21
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta OMIM:615502
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Ventricular septal defect, Abnormal aort... ORPHA:392
Koolen-De Vries Syndrome Due To A Point Mutation
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, Bi... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, Bi... ORPHA:363958
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta,... ORPHA:353281
Meacham Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Situs inversus totalis, Ventricular sept... ORPHA:3097
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Splenomegaly, Cherry red spot of the macula, Cardiomyopathy OMIM:256550
Diabetic Embryopathy
Ventricular septal defect, Abnormal aortic morphology, Abnormality of the pulmonary artery, Tetra... ORPHA:1926
Cleft Palate, Cardiac Defects, And Mental Retardation
Coarctation of aorta, Atrial septal defect, Ventricular septal defect OMIM:600987
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Cerebral artery atherosclerosis, Renal artery stenosis, Coronary artery atherosclerosis OMIM:209010
Fontaine Progeroid Syndrome
Atrial septal defect, Abnormal heart morphology, Patent ductus arteriosus, Left ventricular hyper... OMIM:612289
Homozygous Familial Hypercholesterolemia
Myocardial steatosis, Calcification of the aorta, Premature coronary artery atherosclerosis, Coro... ORPHA:391665
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Aortic valve stenosis, Bicuspid aortic valve OMIM:613563
Pseudoxanthoma Elasticum, Forme Fruste
Medial calcification of medium-sized arteries, Arteriosclerosis, Medial calcification of large ar... OMIM:177850
8P23.1 Microdeletion Syndrome
Abnormal aortic morphology, Patent ductus arteriosus, Abnormal cardiac septum morphology, Hypopla... ORPHA:251071
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Patent ductus ... OMIM:306955
Williams Syndrome
Atrial septal defect, Abnormal carotid artery morphology, Ventricular septal defect, Abnormal end... ORPHA:904
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Arterial Tortuosity Syndrome
Abnormal carotid artery morphology, Aortic aneurysm, Vascular dilatation, Aortic root aneurysm, P... ORPHA:3342
45,X/46,Xy Mixed Gonadal Dysgenesis
Coarctation of aorta, Bicuspid aortic valve ORPHA:1772
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Hepatomegaly, Cardiomegaly, Ventricular septal hyp... OMIM:115197
Transaldolase Deficiency
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ... OMIM:606003
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Coarctation of aorta,... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Coarctation of aorta,... ORPHA:353277
Catel-Manzke Syndrome
Overriding aorta, Dextrocardia, Coarctation of aorta, Ventricular septal defect OMIM:616145
Progeroid Short Stature With Pigmented Nevi
Aortic valve stenosis, Bicuspid aortic valve OMIM:176690
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Hypertrophic card... OMIM:300257
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Abdominal Obesity-Metabolic Syndrome 3
Coronary artery stenosis OMIM:615812
Turner Syndrome Due To Structural X Chromosome Anomalies
Atrial septal defect, Arterial dissection, Bicuspid aortic valve, Hypoplastic left heart, Coarcta... ORPHA:99413
Turner Syndrome
Atrial septal defect, Arterial dissection, Bicuspid aortic valve, Hypoplastic left heart, Coarcta... ORPHA:881
Mosaic Monosomy X
Atrial septal defect, Arterial dissection, Bicuspid aortic valve, Hypoplastic left heart, Coarcta... ORPHA:99228
Monosomy X
Atrial septal defect, Arterial dissection, Bicuspid aortic valve, Hypoplastic left heart, Coarcta... ORPHA:99226
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:269920
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Patent ductus arterio... ORPHA:438213
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Cardiomegaly, Ventricular septal defect OMIM:617022
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Endocardial fibroelastosis, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:212140
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Pseudoxanthoma Elasticum
Abnormal endocardium morphology, Restrictive cardiomyopathy, Vascular dilatation, Atherosclerosis... ORPHA:758
Phaver Syndrome
Pulmonary artery atresia, Coarctation of aorta, Hypoplastic aortic arch, Ventricular septal defect ORPHA:2876
Tangier Disease
Accelerated atherosclerosis, Coronary artery stenosis, Carotid artery stenosis, Left ventricular ... ORPHA:31150
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Atrial septal defect, Truncus arteriosus, Single v... OMIM:601186
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Ventricular septal defect, Atrial septal defect, Bicuspid aortic valve OMIM:271640
Cranioectodermal Dysplasia 1
Hepatomegaly, Bicuspid aortic valve OMIM:218330
Williams-Beuren Syndrome
Atrial septal defect, Coronary artery stenosis, Ventricular septal defect, Peripheral pulmonary a... OMIM:194050
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Arterial stenosis ORPHA:136
Mulibrey Nanism
Hepatomegaly, Pericardial constriction, Myocardial fibrosis, Cardiomegaly OMIM:253250
Hughes-Stovin Syndrome
Pulmonary artery aneurysm, Vasculitis, Arterial stenosis ORPHA:228116
Hypercholesterolemia, Familial, 1
Coronary artery atherosclerosis OMIM:143890
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Vascular dilatation OMIM:613320
Hardikar Syndrome
Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, Hepatomegaly, Pulmonar... OMIM:612726
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral valve prolapse, Aortic valve stenosis, Cardiomegaly, Abnormal atrioventricular valve morph... ORPHA:324410
Multisystemic Smooth Muscle Dysfunction Syndrome
Abnormal aortic morphology, Patent ductus arteriosus, Vascular dilatation, Thoracic aortic aneury... OMIM:613834
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Cerebral arteriovenous malformation, Hepatic arteriovenous malformation, Aortic dissection, Mitra... OMIM:175050
Alkaptonuria
Mitral valve calcification, Aortic valve calcification, Coronary artery calcification, Aortic ane... OMIM:203500
Chromosome 1P36 Deletion Syndrome
Atrial septal defect, Noncompaction cardiomyopathy, Dilated cardiomyopathy, Ventricular septal de... OMIM:607872
Noonan Syndrome 10
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Mit... OMIM:616564
Hypercholesterolemia, Familial, 2
Coronary artery atherosclerosis OMIM:144010
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Aortic tortuosity, Generalized arterial tortuosity, Aortic valve stenosi... OMIM:208050
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Aortic atherosclerotic lesion, Coronary arte... ORPHA:363618
Glycogen Storage Disease Ii
Hepatomegaly, Dilatation of the cerebral artery, Cardiomegaly, Splenomegaly OMIM:232300
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Atrial septal defect, Patent ductus arteriosus, Arterial stenosis, Vascular dilatation ORPHA:2637
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Hypoplastic aortic arc... ORPHA:99125
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... OMIM:600460
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly OMIM:235200
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:619051
Noonan Syndrome 2
Atrial septal defect, Abnormal coronary artery origin, Ventricular septal defect, Patent ductus a... OMIM:605275
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Varicose veins, Vascular dilatation, Abnormal heart morphology OMIM:618343
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Histiocytosis-Lymphadenopathy Plus Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hepatomegaly, Pulmonic... OMIM:602782
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Abnormal heart morphology, Pulmonary artery sling, Coarctation of aorta, Abnormal pulmonary valve... ORPHA:261537
Abdominal Obesity-Metabolic Syndrome 4
Accelerated atherosclerosis, Coronary artery atherosclerosis OMIM:618620
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Double outlet right ventricle, Hypoplastic ... ORPHA:2209
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Aortic atherosclerotic lesion, Accelerated atherosclerosis, Coronary artery atherosclerosis ORPHA:209902
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Abnormal heart morphology, Ventricular septal defect, Pulmonary artery sling, Coarctation of aort... ORPHA:261552
Congenitally Corrected Transposition Of The Great Arteries
Single ventricle, Patent ductus arteriosus, Atrial situs ambiguous, Dextrocardia, Gerbode ventric... ORPHA:216694
Mowat-Wilson Syndrome
Abnormal heart morphology, Pulmonary artery sling, Coarctation of aorta, Patent ductus arteriosus... ORPHA:2152
Triglyceride Deposit Cardiomyovasculopathy
Renal artery atherosclerosis, Coronary artery stenosis, Coronary artery atherosclerosis, Hepatome... ORPHA:565612
Hypertrichotic Osteochondrodysplasia, Cantu Type
Abnormal heart valve morphology, Patent ductus arteriosus, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:1517
Sandhoff Disease
Hepatomegaly, Hepatosplenomegaly, Cherry red spot of the macula, Cardiomegaly OMIM:268800
Alkaptonuria
Abnormal heart valve morphology, Mitral valve calcification, Coronary artery calcification, Ather... ORPHA:56
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly ORPHA:42
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Complete atrioventricular can... OMIM:264480
Acrocardiofacial Syndrome
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Mitral stenosis, Coarctation... ORPHA:2008
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Cardiomyopathy OMIM:105210
Buschke-Ollendorff Syndrome
Abnormal aortic morphology ORPHA:1306
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Hypoplastic left heart, Coarctation of aorta, Patent foramen ovale, Te... OMIM:618748
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Phace Syndrome
Abnormal carotid artery morphology, Cerebral arteriovenous malformation, Abnormal heart morpholog... ORPHA:42775
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:616897
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:201475
Mucopolysaccharidosis Type 2
Abnormal mitral valve morphology, Abnormal heart valve morphology, Abnormal heart morphology, Abn... ORPHA:580
Encephalocraniocutaneous Lipomatosis
Interrupted aortic arch, Abnormal aortic morphology, Aortic valve stenosis, Tricuspid valve prola... ORPHA:2396
Familial Thrombocytosis
Peripheral arterial stenosis, Splenomegaly ORPHA:71493
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Cardiomyopathy, Biventricular hypertrophy OMIM:261740
Classical-Like Ehlers-Danlos Syndrome Type 2
Prominent veins on trunk, Pericardial effusion, Carotid artery stenosis, Aortic root aneurysm, Mi... ORPHA:536532
Fryns Syndrome
Abnormal cardiac septum morphology, Tetralogy of Fallot, Abnormal aortic arch morphology, Abnorma... ORPHA:2059
Glycogen Storage Disease Due To Acid Maltase Deficiency
Basilar artery calcification, Hepatomegaly, Thoracic aortic aneurysm, Dilatation of the cerebral ... ORPHA:365
Mucopolysaccharidosis Type 2, Severe Form
Abnormal mitral valve morphology, Abnormal heart valve morphology, Abnormal tricuspid valve morph... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal mitral valve morphology, Abnormal heart valve morphology, Abnormal tricuspid valve morph... ORPHA:217093
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Complete Atrioventricular Septal Defect
Complete atrioventricular canal defect, Displacement of the papillary muscles, Hepatomegaly, Righ... ORPHA:1329
Pagod Syndrome
Situs inversus totalis, Abnormal aortic morphology, Pulmonary artery hypoplasia, Hypoplastic left... ORPHA:991
Symptomatic Form Of Hemochromatosis Type 1
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly ORPHA:465508
Menkes Disease
Venous insufficiency, Abnormal carotid artery morphology, Arterial stenosis, Vascular dilatation ORPHA:565
Pseudo-Torch Syndrome 3
Cardiomegaly OMIM:618886
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Patent ductus arteriosus, Hepatomegaly, Splenomegaly, Coarctation of aorta, Atrioventricular cana... OMIM:617088
Mosaic Trisomy 16
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Patent ductus arterio... ORPHA:1708
Aneurysm-Osteoarthritis Syndrome
Arterial tortuosity, Abnormal heart morphology, Patent ductus arteriosus, Dilatation of the sinus... ORPHA:284984
Cutis Marmorata Telangiectatica Congenita
Patent ductus arteriosus, Arterial stenosis, Arteriovenous malformation ORPHA:1556
Sickle Cell Anemia
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:603903
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly, Enlarged kidney OMIM:608836
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Fucosidosis
Hepatomegaly, Cardiomegaly ORPHA:349
2Q37 Microdeletion Syndrome
Abnormal aortic morphology ORPHA:1001
Meester-Loeys Syndrome
Pulmonary artery aneurysm, Dilatation of the cerebral artery, Aortic dissection OMIM:300989
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly, Splenomegaly OMIM:608013
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:230000
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy OMIM:619259
Naxos Disease
Dilated cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Right ventricular ca... OMIM:601214
Mosaic Variegated Aneuploidy Syndrome
Abnormal aortic morphology, Atrial septal defect, Coarctation of aorta, Subvalvular aortic stenosis ORPHA:1052
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:308552
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Patent ductus arteriosus, Cardiomegaly, Ventricular septal defect ORPHA:96191
Leigh Syndrome With Nephrotic Syndrome
Cardiomegaly ORPHA:255249
Familial Parathyroid Adenoma
Mitral valve calcification, Aortic valve calcification, Left ventricular hypertrophy ORPHA:99877
Singleton-Merten Syndrome 1
Mitral valve calcification, Aortic valve stenosis, Cardiomegaly, Aortic arch calcification, Aorti... OMIM:182250
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right ventricular hypertrophy, Cardiomegaly ORPHA:268
Fanconi Anemia
Atrial septal defect, Abnormal carotid artery morphology, Abnormal aortic morphology, Abnormal ao... ORPHA:84
Loeys-Dietz Syndrome
Arterial tortuosity, Patent ductus arteriosus, Arterial dissection, Vascular dilatation, Aortic d... ORPHA:60030
Aicardi-Goutières Syndrome
Moyamoya phenomenon, Calcification of the aorta, Cardiomegaly, Hepatosplenomegaly, Aortic aneurys... ORPHA:51
Vascular Ehlers-Danlos Syndrome
Arteriovenous fistula, Arterial stenosis, Abnormal heart valve morphology, Aortic dissection, Vas... ORPHA:286
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Right ventricular hype... OMIM:300967
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Abnormal myocardium morphology, Cardiomegaly, Cardiomyopathy ORPHA:228308
Holoprosencephaly
Abnormal pulmonary valve morphology, Tetralogy of Fallot, Abnormal aortic morphology, Ventricular... ORPHA:2162
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Atypical Werner Syndrome
Coronary artery atherosclerosis, Premature arteriosclerosis, Aortic valve stenosis, Peripheral ar... ORPHA:79474
Alport Syndrome
Abnormal aortic morphology, Aortic aneurysm ORPHA:63
Hyperoxaluria, Primary, Type I
Peripheral arterial stenosis OMIM:259900
Mucopolysaccharidosis Type 3
Abnormal mitral valve morphology, Abnormal aortic valve morphology, Hepatomegaly, Cardiomegaly, S... ORPHA:581
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Splenomegaly, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:252500
Generalized Arterial Calcification Of Infancy
Abnormal retinal artery morphology, Ventricular hypertrophy, Calcification of the aorta, Medial c... ORPHA:51608
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Cardiomegaly OMIM:618278
Autosomal Recessive Robinow Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal ao... ORPHA:1507
Tropical Endomyocardial Fibrosis
Coronary artery stenosis, Restrictive cardiomyopathy, Myocardial calcification, Hepatomegaly, Lef... ORPHA:75565
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Microphthalmia, Syndromic 1
Bicuspid aortic valve OMIM:309800
Greenberg Dysplasia
Hepatomegaly, Hepatosplenomegaly, Cardiomegaly OMIM:215140
Igg4-Related Kidney Disease
Abnormal aortic morphology, Arteritis, Pericarditis, Enlarged kidney ORPHA:449395
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Abetalipoproteinemia
Hepatomegaly, Cardiomegaly ORPHA:14
Neurofibromatosis Type 1
Arterial stenosis ORPHA:636
Bohring-Opitz Syndrome
Abnormal cardiac septum morphology, Cardiomegaly ORPHA:97297
Histiocytoid Cardiomyopathy
Hepatomegaly, Cardiomegaly, Ventricular septal defect ORPHA:137675
Yunis-Varon Syndrome
Atrial septal defect, Ventricular septal defect, Cardiomegaly, Tetralogy of Fallot, Renal artery ... ORPHA:3472
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Pancreatic hyperplasia, Cardiomegaly, Cardiomyopathy OMIM:130650
Beckwith-Wiedemann Syndrome
Enlarged kidney, Visceromegaly, Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyop... ORPHA:116
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:256040

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 Pcdha9

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 Pcdha9.

No publications found that use IMPC mice or data for Pcdha9.

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MGI Allele Allele Type Produced
Pcdha9em1(IMPC)J Intra-exon deletion Mice

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