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Gene: Sema3c MGI:107557

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C
Synonyms:
Semae,  1110036B02Rik

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Sema3c 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 Sema3c by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hirschsprung Disease
ORPHA:388

The table below shows human diseases predicted to be associated to Sema3c by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Congenital Heart Defects, Multiple Types, 5
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... OMIM:617912
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... OMIM:615779
Congenital Heart Defects, Multiple Types, 9
Miscarriage, Aortopulmonary collateral arteries, Mitral atresia, Arteria lusoria, Double outlet r... OMIM:620294
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... ORPHA:860
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Aortic Aneurysm, Familial Thoracic 4
Cystic medial necrosis, Aortic regurgitation, Anterior cerebral artery stenosis, Posterior cerebr... OMIM:132900
Aortic Valve Disease 1
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... OMIM:109730
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta OMIM:107550
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Dyschromatosis Universalis Hereditaria
Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait... ORPHA:241
Tetralogy Of Fallot And Glaucoma
Tetralogy of Fallot OMIM:187501
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... OMIM:231060
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Cong... OMIM:614980
Familial Aortic Dissection
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... ORPHA:229
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Truncus arteriosus, Ventricular septal defect OMIM:601355
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Cerebral hem... OMIM:619897
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Structural Heart Defects And Renal Anomalies Syndrome
Death in infancy, Ventricular septal defect, Partial anomalous pulmonary venous return, Right aor... OMIM:617478
Hypoplastic Left Heart Syndrome
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... ORPHA:2248
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Pyknoachondrogenesis
Stillbirth OMIM:265880
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta ORPHA:228190
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect OMIM:618782
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Death in infancy, Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmon... OMIM:618845
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... ORPHA:1330
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Melanocytic nevus ORPHA:2435
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect ORPHA:2516
Scimitar Syndrome
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... ORPHA:185
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... ORPHA:2299
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Atrial Septal Defect 2
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... OMIM:607941
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Pulmonary artery atre... ORPHA:401935
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Death in childhood, Melanin pigment... OMIM:607624
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot OMIM:601322
Grange Syndrome
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp... ORPHA:79094
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... ORPHA:3400
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta OMIM:604381
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
22Q11.2 Duplication Syndrome
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt... ORPHA:1727
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Double Outlet Right Ventricle
Ventricular septal defect, Double outlet right ventricle, Coarctation of aorta, Hypoplastic left ... ORPHA:3426
Aortic Valve Disease 2
Aortic regurgitation, Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Co... OMIM:614823
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta OMIM:601612
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hypopigmented skin patches, Hyperpigmentation of the skin ORPHA:2819
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Adams-Oliver Syndrome 6
Truncus arteriosus, Ventricular septal defect OMIM:616589
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Pulmonary a... OMIM:600001
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Left-to-right shunt, Ventricular septal defect, Congestive heart failure, P... ORPHA:99050
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... OMIM:620067
Microphthalmia, Syndromic 9
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left atriu... OMIM:601186
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... OMIM:613426
Dowling-Degos Disease 2
Hypomelanotic macule, Reticular hyperpigmentation OMIM:615327
Fibromuscular Dysplasia, Arterial
Aortic dissection, Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudic... OMIM:135580
Ventricular Septal Defect 3
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Tachycardia, Abnormal coronary artery morphology, Atrial fibrillati... ORPHA:980
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Hypertrophic cardiomyopathy, Stillbirth, Aortic valve stenosis, Pulmonic ... OMIM:615415
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Death in childhood, Melanin pigment... OMIM:256710
Heart Defects-Limb Shortening Syndrome
Death in infancy, Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morph... ORPHA:1354
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis OMIM:103500
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... OMIM:145250
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve... OMIM:600987
Loeffler Endocarditis
Aortic regurgitation, Abnormal morphology of the chordae tendinae of the mitral valve, Pericardit... ORPHA:75566
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Velocardiofacial Syndrome
Ventricular septal defect, Interrupted aortic arch, Pulmonary artery atresia, Umbilical hernia, T... OMIM:192430
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Trans... OMIM:605376
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin pigmentati... ORPHA:79397
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Laubry-Pezzi Syndrome
Aortic valve prolapse, Bicuspid aortic valve, Abnormal coronary artery morphology, Ventricular se... ORPHA:99094
Acrocardiofacial Syndrome
Death in infancy, Mitral stenosis, Ventricular septal defect, Coarctation of aorta, Atrial septal... ORPHA:2008
Congenital Disorder Of Glycosylation, Type Ih
Neonatal death, Death in infancy, Patent ductus arteriosus, Perimembranous ventricular septal defect OMIM:608104
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... OMIM:618300
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Verheij Syndrome
Branchial cyst, Truncus arteriosus, Ventricular septal defect OMIM:615583
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Patent ductus arteriosus, Truncus arteriosus OMIM:617516
Heart And Brain Malformation Syndrome
Ventricular septal defect, Interrupted aortic arch OMIM:616920
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Anomalous origin of left coronary artery from the pulmonary artery, Congest... ORPHA:2326
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Hypopigmentation of the skin OMIM:617294
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Hy... ORPHA:79399
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Spina bifida occulta, Transposition of the great arteri... OMIM:617877
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Part... OMIM:619657
Gillespie Syndrome
Truncus arteriosus OMIM:206700
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Bicuspid aortic valve, Ascending tubular aorta aneurysm, Aortic root aneury... OMIM:619825
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... OMIM:616501
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Dou... OMIM:179613
Periventricular Nodular Heterotopia
Aortic regurgitation, Patent ductus arteriosus, Abnormal heart valve morphology, Aortic aneurysm ORPHA:98892
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Neonatal death, Atrioventric... OMIM:265380
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Pulmonic stenosis, Atri... OMIM:220210
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... ORPHA:33445
Gemignani Syndrome
Hypopigmented skin patches ORPHA:2074
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle... ORPHA:3304
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Congenital Gerbode Defect
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Ba... ORPHA:99095
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:89838
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
Cardiac-Urogenital Syndrome
Atrial septal defect, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary s... OMIM:618280
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Double outlet left ventricle, Ventricular septal defect, Pulmonary a... ORPHA:2255
Meacham Syndrome
Death in infancy, Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Dextroc... OMIM:608978
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, He... ORPHA:402075
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism ORPHA:2786
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Snijders Blok-Campeau Syndrome
Atrial septal defect, Umbilical hernia, Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:618205
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... OMIM:314400
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... ORPHA:895
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Macular telangiectasia, Hypermelanotic... ORPHA:69125
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... ORPHA:91387
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... ORPHA:998
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Left ventricular hypertrophy, Secundum atrial septal defect, Subvalvul... OMIM:108900
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Fair hair OMIM:113750
Emanuel Syndrome
Ventricular septal defect, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, At... OMIM:609029
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Patent foramen ovale, Abnorma... ORPHA:477817
Xeroderma Pigmentosum Variant
Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin, Telan... ORPHA:90342
Right Atrial Isomerism
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Aortopulmonary collatera... OMIM:208530
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Premature graying of hair, Numerous p... OMIM:193510
Infantile Sialic Acid Storage Disease
Cardiomegaly, Congestive heart failure, Death in childhood, Fair hair, Hypopigmentation of the skin OMIM:269920
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Atrial septal defect, Ventricular septal defect, Parachute mitral valve, Patent ductus arteriosus... OMIM:618316
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin OMIM:610798
Albinism-Deafness Syndrome
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism OMIM:300700
Isolated Dandy-Walker Malformation
Tetralogy of Fallot ORPHA:217
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... OMIM:306955
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... OMIM:108800
Criss-Cross Heart
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... ORPHA:1461
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmon... OMIM:609008
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Perimembranous ventricular septal defect OMIM:618804
Mungan Syndrome
Perimembranous ventricular septal defect, Pulmonic stenosis OMIM:611376
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Patent ductus arteriosus, Muscular ventricular septal defect, Abnormal heart morphology, Perimemb... ORPHA:363444
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Emanuel Syndrome
Ventricular septal defect, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, At... ORPHA:96170
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Abnormal atrial arrangement, Abnormal sperm motility, Situs inversus tota... ORPHA:244
Feingold Syndrome Type 1
Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular septal defects, Abnor... ORPHA:391641
Heterotaxy, Visceral, 5, Autosomal
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Patent duc... OMIM:270100
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Right aortic arch, Dextrocardia OMIM:617577
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Coarctation of aorta, Su... OMIM:618164
Cardiomyopathy, Dilated, 2H
Neonatal death, Secundum atrial septal defect, Muscular ventricular septal defect OMIM:620203
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Aortic root aneurysm, Bicuspid aortic valve, Double outlet right ventr... OMIM:616652
Hermansky-Pudlak Syndrome 3
Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:614072
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Atrial sept... OMIM:601927
Igg4-Related Aortitis
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta aneurysm, Dila... ORPHA:449400
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Congestive heart failure, Heart murmur, Stroke, Bacterial endocarditis, Dil... ORPHA:1054
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Coarctation of aorta, Mitral valve prolapse, At... ORPHA:371428
Craniofacioskeletal Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch OMIM:300712
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock OMIM:601706
1Q21.1 Microdeletion Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Interrupted aortic arch ORPHA:250989
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Idiopathic Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90158
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Albinism, Ocular albinism, Me... OMIM:203300
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177910
Encephalocraniocutaneous Lipomatosis
Coarctation of aorta, Abnormal aortic morphology, Tricuspid valve prolapse, Interrupted aortic ar... ORPHA:2396
Chromosome 9P Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus, Perimembranous ventricular septal defect, Ventric... OMIM:158170
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency, Abnormality of skin pigmentation, Abnormal cerebral vascular morphology, Pu... ORPHA:745
Phakomatosis Pigmentovascularis
Generalized hyperpigmentation, Hypopigmented skin patches, Arteriovenous malformation ORPHA:2875
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormality of the pulmonary artery, Ventricular septal defect, Tetralogy of Fallot, Abnormal aor... ORPHA:1166
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear... ORPHA:2209
Alg3-Cdg
Cardiomyopathy, Hypopigmentation of the skin, Coarctation of the descending aortic arch ORPHA:79321
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Varicose veins, Patent ductus arteriosus, Peripheral arterial stenosis, Ventricular septal defect OMIM:126320
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Griscelli Syndrome Type 1
Premature graying of hair, White hair, Partial albinism, Iris hypopigmentation ORPHA:79476
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Ventricular septal defect, Patent ductus arteriosus, Intracranial hemorrhage, Interrupted aortic ... ORPHA:163979
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Vascular ring, Atrial septal defect, Pachygyria, Polymicrogyria OMIM:603387
Familial Cutaneous Collagenoma
Angina pectoris, Congestive heart failure, Abnormality of skin pigmentation, Cardiomyopathy, Atri... ORPHA:53296
Distal 22Q11.2 Microdeletion Syndrome
Branchial fistula, Ventricular septal defect, Atrial septal defect, Truncus arteriosus, Aortic an... ORPHA:261330
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Truncus arteriosus, Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Coarctation o... ORPHA:508498
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation OMIM:106750
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Patent ductus arteriosus, Coarctation of aorta, Interrupted aortic arch, Hypertrophic cardiomyopa... ORPHA:17
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arteriosus, Abnormal ... ORPHA:2306
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Waardenburg Syndrome, Type 4A
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:277580
Cardiac Valvular Dysplasia 1
Atrial septal defect, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Val... OMIM:212093
Al-Raqad Syndrome
Atrial septal defect, Hypopigmentation of the skin OMIM:616459
Phaver Syndrome
Ventricular septal defect, Myelomeningocele, Hypoplastic aortic arch, Coarctation of aorta, Pulmo... ORPHA:2876
Halperin-Birk Syndrome
Umbilical hernia, Perimembranous ventricular septal defect, Death in childhood OMIM:618651
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... OMIM:615067
Hydrocephaly-Low Insertion Umbilicus Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary venous return ORPHA:2184
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology ORPHA:3405
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology ORPHA:1110
Feingold Syndrome 1
Ventricular septal defect, Tricuspid stenosis, Patent ductus arteriosus, Interrupted aortic arch,... OMIM:164280
Menkes Disease
Intracranial hemorrhage, Hypopigmentation of the skin, Death in childhood OMIM:309400
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Aortic regurgitation, Mitral regurgitation, Mitral valve prolapse OMIM:225320
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411515
Maternal Uniparental Disomy Of Chromosome X
Congestive heart failure, Hypopigmentation of the skin ORPHA:261519
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Irregular hyperpigmentation, Heterochromia iridis, Hypopigmented skin p... ORPHA:2885
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation OMIM:614651
Congenital Disorder Of Glycosylation, Type Iie
Secundum atrial septal defect, Death in infancy, Perimembranous ventricular septal defect OMIM:608779
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Pulmonary artery atresia, Double outlet right ventricle, Ventricular septal defect, Pulmonic sten... OMIM:301056
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Premature corona... OMIM:300845
Fetal Encasement Syndrome
Tetralogy of Fallot OMIM:613630
Diabetic Embryopathy
Ventricular septal defect, Tetralogy of Fallot, Spinal dysraphism, Abnormal aortic morphology, Tr... ORPHA:1926
Limited Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Hypopigmented skin patches, Abnormality of skin pigmentation, Pulmona... ORPHA:220402
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Generalized hypopigmentation, Irregular hyperpigmentation ORPHA:1816
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Patent ductus arteriosus, Double outlet right ventricle OMIM:614886
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71526
Fetal Trimethadione Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:1913
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, M... ORPHA:555877
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Spotty hyperpigmentation, Generalized hypopigmentation, Hyperpigmentation of the skin, Generalize... ORPHA:158681
Chondrodysplasia, Blomstrand Type
Stillbirth, Preductal coarctation of the aorta OMIM:215045
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency, Abnormality of skin pigmentation, Abnormal cerebral vascular morphology, Pu... ORPHA:743
Isotretinoin Embryopathy-Like Syndrome
Conotruncal defect OMIM:243440
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Hypopigmented skin patches, Hyperpigmentation of the skin ORPHA:2251
Epidermal Nevus Syndrome
Hypopigmentation of the skin, Hyperpigmentation of the skin, Aortic aneurysm ORPHA:35125
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... OMIM:619910
Phenylketonuria
Generalized hypopigmentation, Fair hair, Blue irides OMIM:261600
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... OMIM:617168
Temtamy Syndrome
Aortic regurgitation, Aortic aneurysm OMIM:218340
Oculocutaneous Albinism Type 1
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... ORPHA:352731
Scheie Syndrome
Aortic regurgitation, Aortic valve stenosis OMIM:607016
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... OMIM:613834
Tetrasomy 15Q26
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch OMIM:614846
Lipodystrophy, Familial Partial, Type 6
Hypertension, Hypopigmentation of the skin OMIM:615980
Developmental And Epileptic Encephalopathy 18
Aortic regurgitation, Atrial septal defect OMIM:615476
Giant Cell Arteritis
Pericarditis, Epistaxis, Sudden cardiac death, Vasculitis, Cerebral ischemia, Aortic dissection, ... ORPHA:397
Meacham Syndrome
Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Anomalous pulmonary ... ORPHA:3097
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Umbilical hernia, Perimembranous ventricular septal defect, Ventricular septal defect OMIM:301040
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Ventricular septal defect, Abnormal pulmonary valve morphology, Reti... ORPHA:567
Down Syndrome
Ventricular septal defect, Atrioventricular canal defect, Pulmonary artery stenosis, Patent ductu... OMIM:190685
Waardenburg Syndrome, Type 3
Partial albinism, Blue irides, Hypopigmented skin patches, Premature graying of hair, White forel... OMIM:148820
Fumarase Deficiency
Perimembranous ventricular septal defect, Lissencephaly, Polymicrogyria OMIM:606812
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolap... OMIM:612561
Vici Syndrome
Cardiomyopathy, Hypopigmentation of the skin, Death in infancy, Abnormality of retinal pigmentation ORPHA:1493
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Tricuspid regurgitation, Left ventricular hypertrophy, Abnormal heart valve... ORPHA:230851
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic regurgitation, Conotruncal defect, Coarctation of aorta, Abnormal cardiac septum morpholog... ORPHA:96147
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic regurgitation, Aortic valve calcification, Aortic valve stenosis OMIM:114065
X-Linked Intellectual Disability, Nascimento Type
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Patchy hypo- and hyperpigme... ORPHA:163956
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In... ORPHA:99147
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Pericardial And Diaphragmatic Defect
Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal defect,... ORPHA:2847
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Arterial Tortuosity Syndrome
Aortic regurgitation, Ventricular hypertrophy, Carotid artery dissection, Pulmonary artery stenos... OMIM:208050
Digeorge Syndrome
Ventricular septal defect, Patent ductus arteriosus, Interrupted aortic arch, Umbilical hernia, T... OMIM:188400
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Patent ductus arteriosus, Muscular ventricular septal defect, Coarctation ... OMIM:612474
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hypopigmentation of the skin, Stroke, Myocardial infarction, Mitral valve prolapse OMIM:236200
Focal Facial Dermal Dysplasia Type I
Spotty hyperpigmentation, Spotty hypopigmentation ORPHA:79133
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Ventricular septal defect, Coarctation of aorta, Subvalvular aortic stenosi... OMIM:614114
Sea-Blue Histiocytosis
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:158029
Perlman Syndrome
Interrupted aortic arch OMIM:267000
Rubinstein-Taybi Syndrome 1
Ventricular septal defect, Spina bifida, Patent foramen ovale, Patent ductus arteriosus, Vascular... OMIM:180849
Mucolipidosis Iii Gamma
Aortic regurgitation, Aortic valve stenosis OMIM:252605
Charge Syndrome
Aortic arch aneurysm, Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal aort... ORPHA:138
Ogden Syndrome
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... OMIM:300855
8Q24.3 Microdeletion Syndrome
Branchial cyst, Ventricular septal defect, Complete atrioventricular canal defect, Patent ductus ... ORPHA:508488
Holoprosencephaly 14
Ventricular septal defect, Periventricular heterotopia, Aortic valve atresia, Gray matter heterot... OMIM:619895
Schimmelpenning-Feuerstein-Mims Syndrome
Hypopigmentation of the skin, Coarctation of aorta OMIM:163200
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Hypopigmentation of the skin ORPHA:261304
Syndromic Diarrhea
Aortic regurgitation, Hypopigmentation of hair, Bicuspid aortic valve, Ventricular septal defect,... ORPHA:84064
Microgastria-Limb Reduction Defect Syndrome
Atrial septal defect, Truncus arteriosus, Abnormal cortical gyration ORPHA:2538
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu... OMIM:611584
Deafness-Vitiligo-Achalasia Syndrome
Hypopigmented skin patches ORPHA:3239
Slc35A2-Cdg
Tetralogy of Fallot, Hypopigmentation of the skin, Abnormal heart morphology ORPHA:356961
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Hypopigmented skin patches ORPHA:1825
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Ocular albinism OMIM:614171
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin OMIM:618541
Wolcott-Rallison Syndrome
Atrial septal defect, Double outlet right ventricle ORPHA:1667
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Cardiomyopathy, Endocardial fibroelastosis OMIM:226100
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy OMIM:600721
Odontotrichoungual-Digital-Palmar Syndrome
Hypopigmentation of the skin OMIM:601957
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aort... OMIM:600460
Attenuated Chédiak-Higashi Syndrome
Generalized hypopigmentation, Ocular albinism, Epistaxis ORPHA:352723
Kapur-Toriello Syndrome
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Pachygyria, Polymicrogyria ORPHA:2328
Hermansky-Pudlak Syndrome 6
Hypopigmentation of the skin, Ocular albinism, Epistaxis, Albinism OMIM:614075
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic ... OMIM:617506
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Transposition of the great arteries, Neonatal death, Atrioventricular canal defect,... OMIM:314390
Vogt-Koyanagi-Harada Disease
Premature graying of hair, Vitiligo, Hypopigmented skin patches, Poliosis ORPHA:3437
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Dilated cardiomyopathy, Bicuspid aortic valve, Renovascular hypertension ORPHA:401923
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Mitral regurgitation, ... OMIM:123700
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation ORPHA:2181
8P23.1 Microdeletion Syndrome
Pulmonary artery stenosis, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal aortic... ORPHA:251071
Distal Deletion 15Q
Bicuspid aortic valve, Mitral atresia, Double outlet right ventricle with doubly committed ventri... ORPHA:1596
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79477
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Arrh... ORPHA:254346
Hereditary Bullous Dystrophy, Macular Type
Hyperpigmentation of the skin, Spotty hypopigmentation, Heart murmur, Abnormal heart morphology ORPHA:1867
Alagille Syndrome 2
Atrial septal defect, Tetralogy of Fallot, Pulmonic stenosis, Peripheral pulmonary artery stenosis OMIM:610205
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Acute Radiation Syndrome
Hypopigmentation of the skin, Hyperpigmentation of the skin, Hypotension, Telangiectasia ORPHA:454831
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98795
Classic Mycosis Fungoides
Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2584
Localized Epidermolysis Bullosa Simplex
Mixed hypo- and hyperpigmentation of the skin ORPHA:79400
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Atrial septal defect, Double outlet right ventricle, Patent ductus arteriosus, Pulmonic stenosis OMIM:618223
20Q13.33 Microdeletion Syndrome
Atrial septal defect, Dilation of Virchow-Robin spaces, Hypoplastic aortic arch, Abnormal cardiac... ORPHA:261311
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres... ORPHA:210122
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Hypopigmentation of hair, Partial albinism, Epistaxis, Ocular albini... ORPHA:79430
Intellectual Disability And Myopathy Syndrome
Left ventricular systolic dysfunction, Cafe-au-lait spot, Spotty hypopigmentation OMIM:619719
You-Hoover-Fong Syndrome
Coarctation of aorta, Double aortic arch, Vascular ring OMIM:616954
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Piebaldism, Hypopigmented skin patches,... ORPHA:2884
Holoprosencephaly 13, X-Linked
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Double outlet right ... OMIM:301043
Ermine Phenotype
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... ORPHA:999
Frank-Ter Haar Syndrome
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Atrial septal de... OMIM:249420
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Transposition of the great arteries, Subval... OMIM:280000
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Pulmonary hemorrhage OMIM:603585
Ulnar Agenesis And Endocardial Fibroelastosis
Neonatal death, Endocardial fibroelastosis OMIM:276822
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... ORPHA:95430
Naegeli-Franceschetti-Jadassohn Syndrome
Reticulated skin pigmentation, Hyperpigmentation in sun-exposed areas, Hypopigmentation of the sk... ORPHA:69087
Chronic Actinic Dermatitis
Progressive hyperpigmentation, Hypopigmented skin patches ORPHA:330064
Femoral-Facial Syndrome
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:134780
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Atrial septal defect, Coarctation of aorta, Abnormality of skin pigmentatio... ORPHA:1052
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Agyria, Dilated cardiomyopathy, Myocardial fibrosis, Lissencephaly, Transposition ... OMIM:253800
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411511
Fryns Syndrome
Abnormal cardiac septum morphology, Tetralogy of Fallot, Abnormal aortic arch morphology, Abnorma... ORPHA:2059
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Congestive heart failure, Myocarditis, Vasculitis,... ORPHA:2331
Xeroderma Pigmentosum, Complementation Group C
Freckling, Hypopigmentation of the skin, Telangiectasia OMIM:278720
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... ORPHA:3214
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Tortuous cerebral arteries OMIM:616603
Eosinophilic Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium morphology, ... ORPHA:183
Epidermodysplasia Verruciformis
Multiple cafe-au-lait spots, Telangiectasia of the skin, Hypopigmented skin patches ORPHA:302
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis, Generali... OMIM:222470
Distal Triplication 15Q
Atrial septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Abnormal heart morphology ORPHA:314588
Lichen Planus Pemphigoides
Hypopigmented streaks ORPHA:254478
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Atrial septal defect, Abnormal cerebral vascular morphology, Patent ductus arteriosus, Arterial s... ORPHA:2637
Antisynthetase Syndrome
Aortic regurgitation, Myocarditis, Telangiectasia of the skin, Pulmonary arterial hypertension ORPHA:81
Porphyria Variegata
Hypertension, Tachycardia, Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:79473
Microphthalmia, Syndromic 2
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Hypoplastic aortic arch, Mitra... OMIM:300166
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Death in infancy, Tricuspid regurgitation, Ventricular septal defect, Brush... OMIM:614866
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Patent foramen ovale, Transposition of the great arteries OMIM:616789
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Atrial fibrillation, Arterial tortuosity, Patent ductus arteriosus, Abnorma... ORPHA:284984
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, White hair, Hypopigmented skin patches,... ORPHA:894
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Dowling-Degos Disease
Inguinal freckling, Progressive reticulate hyperpigmentation, Mixed hypo- and hyperpigmentation o... ORPHA:79145
Chediak-Higashi Syndrome
Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Gi... OMIM:214500
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... OMIM:619472
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Ventricular septal defect, Multiple lentigines, Pulmonic stenosis, Atrial s... OMIM:607721
Large Congenital Melanocytic Nevus
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches ORPHA:626
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of retinal pigmentation, Abnormal mitral valve morphology, Melanocytic nevus, Multipl... ORPHA:1969
Focal Facial Dermal Dysplasia Type Iii
Multiple cafe-au-lait spots, Hypopigmented skin patches ORPHA:1807
Hermansky-Pudlak Syndrome 8
Epistaxis, Albinism, Silver-gray hair, Blue irides, Ocular albinism, Iris transillumination defec... OMIM:614077
Angelman Syndrome
Fair hair, Hypopigmentation of the skin, Blue irides OMIM:105830
Autoimmune Polyendocrinopathy Type 1
Hypopigmented skin patches, Abnormal cerebral vascular morphology ORPHA:3453
Localized Scleroderma
Raynaud phenomenon, Vasculitis, Hypopigmented skin patches, Stroke, Arrhythmia, Hyperpigmentation... ORPHA:90289
Mucopolysaccharidosis, Type X
Aortic regurgitation, Aortic valve stenosis, Left ventricular hypertrophy, Thickened aortic valve... OMIM:619698
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98794
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Patent foramen ovale, Patent ductus arteriosus, Abnormal heart morpholo... ORPHA:177907
Mucolipidosis Type Ii
Aortic regurgitation, Abnormal atrioventricular valve physiology, Abnormal mitral valve morpholog... ORPHA:576
Hurler-Scheie Syndrome
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation OMIM:607015
Hypomelanosis Of Ito
Macular hypopigmented whorls, streaks, and patches OMIM:300337
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Cardiomegaly, Congestive heart failure, Heart murmur, Mitral regurgitation,... OMIM:252500
De Barsy Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic arch, Prominent veins on ... ORPHA:2962
Crouzon Syndrome
Hypopigmented skin patches, Melanocytic nevus ORPHA:207
Muenke Syndrome
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule ORPHA:53271
Vici Syndrome
Hypopigmentation of hair, Albinism, Congestive heart failure, Dilated cardiomyopathy, Ocular albi... OMIM:242840
Griscelli Syndrome
Silver-gray hair, White hair, Hypopigmented skin patches, Premature graying of hair, Iris hypopig... ORPHA:381
Noonan Syndrome 14
Aortic regurgitation, Hypertrophic cardiomyopathy, Pulmonic stenosis, Mitral valve prolapse OMIM:619745
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Aortic regurgitation, Pulmonary artery stenosis, Abnormal cardiac septum morphology, Mitral atresia ORPHA:140952
Monosomy 18Q
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Left aortic a... ORPHA:1600
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Intracranial hemorrhage, Abnormal mitral valve morphology, Hypermelanotic ... ORPHA:740
Marfan Syndrome
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, M... OMIM:154700
Thoracoabdominal Syndrome
Patent ductus arteriosus, Ectopia cordis, Transposition of the great arteries OMIM:313850
Carpenter Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Spina bifida occulta, Transposition of the g... OMIM:201000
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... OMIM:618748
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Perimembranous ventricular septal defect ORPHA:83617
Hurler Syndrome
Aortic regurgitation, Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis OMIM:607014
Pontocerebellar Hypoplasia, Type 7
Hypopigmentation of the skin OMIM:614969
Cogan Syndrome
Aortic regurgitation, Vasculitis, Large vessel vasculitis ORPHA:1467
Koolen-De Vries Syndrome Due To A Point Mutation
Fair hair, Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Abnorma... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Fair hair, Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Abnorma... ORPHA:363958
Prader-Willi Syndrome
Hypertension, Hypopigmentation of hair, Stroke, Hypopigmentation of the skin ORPHA:739
Eisenmenger Syndrome
Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Supraventricular tachycar... ORPHA:97214
Oculocerebral Hypopigmentation Syndrome, Preus Type
Generalized hypopigmentation, White hair, Ocular albinism, Iris hypopigmentation ORPHA:2720
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect ORPHA:40366
Charge Syndrome
Atrial septal defect, Overriding aorta, Ventricular septal defect, Secundum atrial septal defect,... OMIM:214800
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Generalized hypopigmentation, Iris transillumination defect OMIM:617306
Angelman Syndrome
Fair hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:72
Hunter-Macdonald Syndrome
Aortic regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse, Hyp... OMIM:611962
Chédiak-Higashi Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Epistaxis, Pericardial effusion, L... ORPHA:167
Waardenburg Syndrome
Hypopigmentation of hair, Hypopigmented skin patches, Abnormality of skin pigmentation, Premature... ORPHA:3440
Ververi-Brady Syndrome
Transposition of the great arteries OMIM:617982
Adams-Oliver Syndrome 1
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Pachygyria, Pulmonary artery ste... OMIM:100300
Gapo Syndrome
Hypopigmented skin patches, Abnormal cerebral vascular morphology, Atherosclerosis ORPHA:2067
Loeys-Dietz Syndrome 2
Aortic arch aneurysm, Atrial septal defect, Bicuspid aortic valve, Arterial tortuosity, Descendin... OMIM:610168
Thakker-Donnai Syndrome
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries ORPHA:1780
Magel2-Related Prader-Willi-Like Syndrome
Atrial septal defect, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398069
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Congestive heart failure, Dilatation of the ventricular cavity, Coarctation... ORPHA:90348
Alpha-Mannosidosis, Adult Form
Aortic regurgitation ORPHA:309288
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613266
Scheie Syndrome
Aortic regurgitation ORPHA:93474
2P15P16.1 Microdeletion Syndrome
Aortic regurgitation, Mitral regurgitation ORPHA:261349
Bloom Syndrome
Hypopigmentation of the skin, Cafe-au-lait spot, Facial telangiectasia in butterfly midface distr... OMIM:210900
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Mixed hypo- and hyperpigmentation of the skin, Hypotension ORPHA:79456
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Depigmentation/hyperpigmentation of skin, Hypopigmentation of the skin, Hyperpigmentation of the ... ORPHA:79396
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Ventricular septal defect, Mitral atresia, Ascending aorta hypoplasia, Muscular ventricular septa... OMIM:619503
Mosaic Trisomy 8
Hypopigmentation of the skin, Hypopigmented skin patches ORPHA:96061
Prader-Willi Syndrome
Generalized hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopi... OMIM:176270
Lichen Planopilaris
Hypopigmented skin patches ORPHA:525
Chromomycosis
Lymphangiectasis, Hypopigmented skin patches ORPHA:182
Congenital Tracheal Stenosis
Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Hypoplastic left... ORPHA:141127
Autoimmune Polyendocrinopathy Type 2
Hypopigmented skin patches ORPHA:3143
Mismatch Repair Cancer Syndrome 1
Multiple cafe-au-lait spots, Axillary freckling, Hypopigmentation of the skin OMIM:276300
Diamond-Blackfan Anemia 21
Aortic regurgitation, Secundum atrial septal defect OMIM:620072
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Bicuspid aortic valve, Ventricular septal defect, Congestive heart failure,... OMIM:619475
Infantile Krabbe Disease
Abnormal heart rate variability, Cherry red spot of the macula, Hypopigmented skin patches ORPHA:206436
Hartnup Disease
Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2116
Enthesitis-Related Juvenile Idiopathic Arthritis
Aortic regurgitation, Dilatation of the ventricular cavity, Mitral valve prolapse, Abnormal heart... ORPHA:85438
Intellectual Developmental Disorder, Autosomal Recessive 78
Hypopigmentation of the skin OMIM:620237
Behçet Disease
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Pulmonary... ORPHA:117
Systemic Sclerosis
Pericarditis, Nail bed telangiectasia, Right ventricular failure, Raynaud phenomenon, Myocarditis... ORPHA:90291
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398079
Porphyria Cutanea Tarda
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:101330
Phace Syndrome
Cerebral arteriovenous malformation, Coarctation of aorta, Abnormal heart morphology, Aortic root... ORPHA:42775
Acrofrontofacionasal Dysostosis
Brushfield spots, Hypopigmented skin patches ORPHA:1784
Waardenburg Syndrome, Type 1
White eyelashes, Partial albinism, White eyebrow, Blue irides, Premature graying of hair, White f... OMIM:193500
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation OMIM:252600
Hermansky-Pudlak Syndrome 2
Aberrant melanosome maturation, Albinism, Ocular albinism, Generalized hypopigmentation, Fair hair OMIM:608233
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Neon... OMIM:619534
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Cafe-au-lait spot, Hypopigmented skin patches ORPHA:457485
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Aortic valve stenosis ORPHA:464311
Degcags Syndrome
Hypopigmentation of the skin, Tachycardia, Hypopigmentation of hair, Ventricular septal defect, P... OMIM:619488
Turnpenny-Fry Syndrome
Aortic regurgitation, Patent ductus arteriosus, Melanocytic nevus, Mitral valve prolapse, Tricusp... OMIM:618371
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Ventricular septal defect OMIM:609460
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98754
Fanconi Anemia
Atrial septal defect, Patent ductus arteriosus, Hypopigmented skin patches, Abnormality of skin p... ORPHA:84
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98793
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177901
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Aortic valve stenosis ORPHA:464306
Cutis Laxa, Autosomal Recessive, Type Iic
Aortic regurgitation, Prominent superficial veins, Tricuspid regurgitation, Mitral valve prolapse... OMIM:617402
Ruvalcaba Syndrome
Hypopigmented skin patches ORPHA:3121
X-Linked Agammaglobulinemia
Hypopigmented skin patches ORPHA:47
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Arrhythmia OMIM:106300
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Hypopigmented skin patches ORPHA:1295
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Spotty hypopigmentation OMIM:300860
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Arterial stenosis, Hypopigmen... ORPHA:636
Mosaic Trisomy 20
Ventricular septal defect, Dysplastic tricuspid valve, Depigmentation/hyperpigmentation of skin, ... ORPHA:1724
Pallister-Hall Syndrome
Neonatal death, Patent ductus arteriosus, Ventricular septal defect, Preductal coarctation of the... OMIM:146510
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Hypopigmented skin patches ORPHA:2715
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Muscular ventricular septal defect, Hypoplastic aortic arch, Dysplasti... OMIM:157800
Rothmund-Thomson Syndrome
Hypopigmentation of the skin, Telangiectasia of the skin, Reticular hyperpigmentation ORPHA:2909
Galloway-Mowat Syndrome 1
Hypopigmentation of the skin OMIM:251300
Bloom Syndrome
Cafe-au-lait spot, Hypopigmentation of the skin, Telangiectasia ORPHA:125
Gaucher Disease, Type Ii
Death in infancy, Double aortic arch OMIM:230900
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic regurgitation, Ventricular hypertrophy, Tricuspid regurgitation, Mitral stenosis, Tricuspi... OMIM:143095
Rothmund-Thomson Syndrome Type 1
Hypopigmentation of the skin, Hyperpigmentation of the skin, Telangiectasia ORPHA:221008
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Miscarriage, Ventricular septal defect, Large placenta, Pulmonary artery stenosis, Abnormal aorti... ORPHA:96334
Osteogenesis Imperfecta
Aortic regurgitation, Abnormal endocardium morphology, Cerebral hemorrhage, Mitral valve prolapse... ORPHA:666
Curry-Jones Syndrome
Hypopigmented skin patches ORPHA:1553
Incontinentia Pigmenti
Telangiectasia of the skin, Congestive heart failure, Retinal hemorrhage, Hypopigmented skin patc... ORPHA:464
Doors Syndrome
Double outlet right ventricle, Spina bifida occulta, Polymicrogyria, Sirenomelia ORPHA:79500
Harrod Syndrome
Hypopigmented skin patches ORPHA:2115
Pemphigus Erythematosus
Hypopigmented skin patches ORPHA:79480
Oculocerebrocutaneous Syndrome
Hypopigmented skin patches ORPHA:1647
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Tricuspid regurgitation, Dilated cardiomyopathy, Hypopigment... ORPHA:2556
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Tricuspid regurgitation, Mitral valve prolapse, Mitral regurgitation, Tricu... OMIM:601776
Short Stature With Microcephaly And Distinctive Facies
Spotty hyperpigmentation, Spotty hypopigmentation, Death in infancy OMIM:615789
Zttk Syndrome
Aortic regurgitation, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:617140
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines, Dilatation of ... OMIM:210720
Rothmund-Thomson Syndrome Type 2
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:221016
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Mitral regurgitation ORPHA:309282
Porphyria, Congenital Erythropoietic
Hypopigmentation of the skin, Hyperpigmentation of the skin OMIM:263700
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hypopigmentation of the skin OMIM:301066
Neu-Laxova Syndrome 1
Hydranencephaly, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Stillbirth, L... OMIM:256520
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Abnorm... ORPHA:353281
Reactive Arthritis
Aortic regurgitation, Pericarditis ORPHA:29207
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, Arrhythmia, Hete... ORPHA:163746
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal he... ORPHA:268261
Chime Syndrome
Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... ORPHA:3474
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Right aortic arch, Pachygyria, Ventricular septal defect ORPHA:513456
Xeroderma Pigmentosum
Conjunctival telangiectasia, Telangiectasia of the skin, Hypermelanotic macule, Hypopigmented ski... ORPHA:910
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Prominent superficial veins, Telangiectasia of the skin, Abn... ORPHA:79474
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
White eyelashes, White eyebrow, Portal hypertension, Hypopigmented skin patches, White forelock, ... OMIM:609136
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hypoplastic aortic arch ORPHA:457284
Hepatoerythropoietic Porphyria
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:95159
Spondyloenchondrodysplasia With Immune Dysregulation
Raynaud phenomenon, Hypopigmented skin patches on arms, Hypermelanotic macule, Vitiligo OMIM:607944
Cystinosis, Nephropathic
Retinal pigment epithelial mottling, Hypopigmentation of hair, Hypopigmentation of the skin, Pigm... OMIM:219800
Duane Retraction Syndrome
Central heterochromia, Patchy hypopigmentation of hair, Hypopigmented skin patches, Irregular hyp... ORPHA:233
Tetrasomy 9P
Juxtaductal coarctation of the aorta, Pericarditis, Dextrocardia, Abnormal cardiac septum morphol... ORPHA:3310
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Coarct... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Coarct... ORPHA:353277
Dyskeratosis Congenita
Telangiectasia of the skin, Hypermelanotic macule, White hair, Hypopigmented skin patches, Premat... ORPHA:1775
Sarcoidosis
Abnormal cardiac ventricular function, Portal hypertension, Heart block, Ventricular tachycardia,... ORPHA:797
Hereditary Acrokeratotic Poikiloderma
Irregular hyperpigmentation, Telangiectasia of the skin, Hypopigmented skin patches ORPHA:2907
Vater/Vacterl Association
Occipital encephalocele, Ventricular septal defect, Spina bifida, Patent ductus arteriosus, Trans... OMIM:192350
Congenital Erythropoietic Porphyria
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:79277
Sotos Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal def... ORPHA:821
Focal Dermal Hypoplasia
Linear hyperpigmentation, Hypopigmentation of the skin, Reticular hyperpigmentation, Telangiectasia OMIM:305600
Papillon-Lefèvre Syndrome
Hypopigmented skin patches ORPHA:678
Restrictive Dermopathy
Dextrocardia, Large placenta, Patent ductus arteriosus, Ascending tubular aorta aneurysm, Transpo... ORPHA:1662
Familial Tumoral Calcinosis
Hypopigmented skin patches ORPHA:53715
Oculocerebrorenal Syndrome Of Lowe
Generalized hypopigmentation, Death in infancy ORPHA:534
Pallister-Killian Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hyperpigmented streaks, Coarctation of aorta... OMIM:601803
Eec Syndrome
Generalized hypopigmentation ORPHA:1896
Tetragametic Chimerism
Hypopigmented skin patches ORPHA:199310
Cowden Syndrome
Multiple cafe-au-lait spots, Melanocytic nevus, Hypopigmented skin patches, Mucosal telangiectasiae ORPHA:201
Pitt-Hopkins Syndrome
Hypopigmented skin patches ORPHA:2896
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Generalized hypopigmentation, Fair hair, Blue irides OMIM:604292
Mend Syndrome
Aortic valve stenosis, Spotty hypopigmentation, Abnormal heart morphology ORPHA:401973
Kindler Syndrome
Spotty hyperpigmentation, Telangiectasia of the skin, Spotty hypopigmentation OMIM:173650
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Generalized hypopigmentation, Fair hair, Blue irides OMIM:129900
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Coarctation of aort... OMIM:164210
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:95455
Mend Syndrome
Aortic valve stenosis, Spotty hypopigmentation OMIM:300960
Carpenter Syndrome 2
Dextrocardia, Situs inversus totalis, Patent ductus arteriosus, Transposition of the great arteri... OMIM:614976
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Generalized hypopigmentation OMIM:619321
X-Linked Intellectual Disability, Snyder Type
Patchy hypo- and hyperpigmentation ORPHA:3063
Simpson-Golabi-Behmel Syndrome, Type 1
Ventricular septal defect, Patent ductus arteriosus, Cardiomyopathy, Total anomalous pulmonary ve... OMIM:312870
Hirschsprung Disease
ORPHA:388

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 Sema3c

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 Sema3c.

There are 3 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Endothelial PlexinD1 signaling instructs spinal cord vascularization and motor neuron development. Neuron (December 2022) Sema3ctm1a(KOMP)Wtsi PMC9796814
Genetic inactivation of Semaphorin 3C protects mice from acute kidney injury. Kidney international (January 2022) Sema3ctm1c(KOMP)Wtsi 35090878
Neural crest-derived SEMA3C activates endothelial NRP1 for cardiac outflow tract septation. The Journal of clinical investigation (June 2015) Sema3ctm1a(KOMP)Wtsi PMC4563681

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Sema3ctm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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