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Genes Phenotypes Help, News, Blog

Gene: Mgrn1 MGI:2447670

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Gene Summary

Name:
mahogunin, ring finger 1
Synonyms:
nc,  2610042J20Rik

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Mgrn1em1(IMPC)Tcp HOM   Early adult 0.00
shortened QRS complex duration Mgrn1em1(IMPC)Tcp HET Early adult 1.06×10-06
decreased bone mineral content Mgrn1em1(IMPC)Tcp HOM   Early adult 1.07×10-08
abnormal auditory brainstem response Mgrn1em1(IMPC)Tcp HOM   Early adult 5.52×10-10
abnormal bone structure Mgrn1em1(IMPC)Tcp HOM   Early adult 2.19×10-06
increased heart weight Mgrn1em1(IMPC)Tcp HET   Early adult 2.20×10-05

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Viewing: all phenotypes

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.

Eye Morphology

Images Ophthalmoscopy

145 Images

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Eye Morphology

Images Slit Lamp

19 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

16 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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Human diseases caused by Mgrn1 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 Mgrn1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Tented Eyebrows
Abnormal hair morphology OMIM:611426
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Book Syndrome
Premature graying of hair OMIM:112300
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... OMIM:602086
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Pseudopili Annulati
Abnormality of the scalp hair, Abnormality of hair texture OMIM:613241
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, Focal necrosis of right ventricular mus... OMIM:602087
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching, Dextrocardia, Atrioventr... OMIM:606217
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrocardia, Right aortic arch, Ventricular septal defect OMIM:613751
Ciliary Dyskinesia, Primary, 39
Bronchiectasis, Cough, Rhinorrhea, Dextrocardia, Chronic lung disease, Double outlet right ventri... OMIM:618254
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Single ventricle, Cardiac conduction abnormality, Supraventricular... ORPHA:216694
Cardiomyopathy, Familial Hypertrophic, 15
Endocardial fibrosis, Dyspnea, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:613255
Ciliary Dyskinesia, Primary, 37
Wheezing, Situs inversus totalis, Bronchiectasis, Rhinorrhea, Dextrocardia, Chronic rhinitis, Rig... OMIM:617577
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Partial Atrioventricular Septal Defect
Exertional dyspnea, Atrial flutter, Patent ductus arteriosus, Coronary sinus enlargement, Double ... ORPHA:1330
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, ... ORPHA:45453
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Abdominal situs inversus, Dextrocardia, Double outlet right ventricle, Me... OMIM:605376
Long Qt Syndrome 10
Atrial fibrillation, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, T-wave ... OMIM:611819
Hypotrichosis 13
Woolly hair, Sparse and thin eyebrow, Sparse hair OMIM:615896
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Scimitar Syndrome
Single ventricle, Cough, Patent ductus arteriosus, Bronchogenic cyst, Dextrocardia, Left superior... ORPHA:185
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Exertional dyspnea, Patent ductus... ORPHA:99050
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Cardiac Lipidosis, Familial
Congestive heart failure, Death in infancy, Cardiomyopathy OMIM:212080
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin OMIM:606952
Auditory Neuropathy, Autosomal Dominant, 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Endocardial Fibroelastosis
Endocardial fibroelastosis, Congestive heart failure, Cardiomyopathy OMIM:226000
Ethanolaminosis
Cardiomegaly OMIM:227150
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Transposition of the great arteries, Ventricula... OMIM:231060
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Tr... ORPHA:2414
Long Qt Syndrome 11
Prolonged QT interval, Syncope OMIM:611820
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Primary Effusion Lymphoma
Pleural effusion, Pericardial effusion, Dyspnea ORPHA:48686
Hypotrichosis 14
Sparse body hair, Sparse hair OMIM:618275
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Abdominal situs ambiguus, Single ventricle, Aorto... OMIM:208530
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Recurrent respiratory infections, Abnormal heart morphology OMIM:617744
Ciliary Dyskinesia, Primary, 7
Restrictive ventilatory defect, Abnormal ciliary motility, Situs inversus totalis, Bronchiectasis... OMIM:611884
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Recurrent s... OMIM:615067
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Ermine Phenotype
Vitiligo, Albinism, White eyebrow, White hair, White eyelashes, Spotty hyperpigmentation OMIM:227010
Lymphatic Malformation 8
Polyhydramnios, Stillbirth, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Ge... OMIM:618773
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides OMIM:606574
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Dyspnea, Pericardial effusion, Syncope, Myopathy, Left bundle branch blo... OMIM:115197
Spinal Muscular Atrophy, Type I
Atrial septal defect, Spinal muscular atrophy, Ventricular septal defect, Proximal amyotrophy, Re... OMIM:253300
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Chronic pulmonary obstruction, Bronchiectasis, Ciliary dyskinesia, Recurr... OMIM:615482
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Abdominal situs inversus, At... OMIM:617205
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Heterotaxy, Visceral, 5, Autosomal
Atrial septal defect, Ventricular septal defect, Abdominal situs inversus, Dextrocardia, Transpos... OMIM:270100
Truncus Arteriosus
Abnormal coronary artery morphology, Abnormal heart valve physiology, Patent ductus arteriosus, P... ORPHA:3384
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle weakness, Internally nucleated skeletal muscle fibers, Respiratory insufficiency, Proximal... OMIM:618654
Long Qt Syndrome 16
T-wave alternans, Perimembranous ventricular septal defect, Second degree atrioventricular block,... OMIM:618782
Aorto-Ventricular Tunnel
Abnormal coronary artery morphology, Ventricular hypertrophy, Abnormal heart valve morphology, Ab... ORPHA:3400
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Patent ductus arteriosus, Atrial fibrillation,... OMIM:604169
Pleural Mesothelioma
Abnormal lung morphology, Dyspnea, Respiratory distress, Abnormal respiratory system physiology, ... ORPHA:50251
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Atrial fibrillation, Aortic valve stenosis, Doub... OMIM:617912
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Left atrial enl... OMIM:608751
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Alopecia-Mental Retardation Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Mental Retardation Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Alopecia Totalis
Alopecia of scalp, Alopecia ORPHA:700
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... ORPHA:170
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Nasal polyp... OMIM:616037
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Congenital Left Ventricular Aneurysm
Arrhythmia, Abnormal T-wave, Congestive heart failure, Abnormal ST segment, Abnormal left ventric... ORPHA:1055
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG, Secundum atrial septal defect OMIM:178650
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... OMIM:618780
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Pulmonary capillary hemangiomatosis, Interlobular septal thickening, ... ORPHA:199241
Cardiomyopathy, Dilated, 1J
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure, Abnormal left ventricular... OMIM:605362
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Persist... ORPHA:1209
Hydrops Fetalis
Polyhydramnios, Arrhythmia, Abnormal heart morphology, Lymphedema, Pleural effusion, Pericardial ... ORPHA:1041
Malignant Atrophic Papulosis
Pleural effusion, Constrictive pericarditis, Gastrointestinal hemorrhage OMIM:602248
Pulmonary Non-Tuberculous Mycobacterial Infection
Pulmonary opacity, Abnormal sputum, Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmon... ORPHA:411703
Brugada Syndrome 3
Ventricular arrhythmia, Shortened QT interval, J wave, Atrial fibrillation, Sudden cardiac death,... OMIM:611875
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Pericardial effusion, Atrial flutter, Atrial fibrillation, Congestive hea... OMIM:115200
Acute Interstitial Pneumonia
Bronchiectasis, Pericardial effusion, Reticulonodular pattern on pulmonary HRCT, Ground-glass opa... ORPHA:79126
Cardiomyopathy, Dilated, 1B
Ventricular arrhythmia, Vascular dilatation, Impaired myocardial contractility, Congestive heart ... OMIM:600884
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Abnormal cardiac septum morphology, Arrhythmia, Bundle branch block ORPHA:1479
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology, Vent... ORPHA:1354
Noonan Syndrome 8
Polyhydramnios, Atrial septal defect, Ventricular septal defect, Pleural effusion, Patent ductus ... OMIM:615355
Hemochromatosis, Type 1
Arrhythmia, Azoospermia, Amenorrhea, Pleural effusion, Impotence, Testicular atrophy, Congestive ... OMIM:235200
Nephrosialidosis
Pericardial effusion, Death in childhood, Ascites OMIM:256150
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Bronchiectasis, Cough, Absent inner and outer dynein arms, Neonatal respi... OMIM:618063
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:604765
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Syncope OMIM:613694
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Syncope OMIM:613697
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:606685
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Tetralogy of Fallot, Atrial septal defect, Situs inversus totalis OMIM:601322
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:220400
Dextrocardia
Situs inversus totalis, Congenital malformation of the great arteries, Abnormal heart morphology,... ORPHA:1666
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Hypotrichosis 8
Nail pits, Sparse hair, Dry hair, Ridged nail, Coarse hair, Sparse axillary hair, Fair hair, Spar... OMIM:278150
Waardenburg Syndrome, Type 4B
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:613265
Sick Sinus Syndrome 1
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... OMIM:608567
Lymphatic Malformation 7
Atrial septal defect, Respiratory distress, Lymphedema, Pericardial effusion, Facial edema, Edema... OMIM:617300
White Forelock With Malformations
Poliosis, White forelock OMIM:277740
Double Outlet Right Ventricle
Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Heart murmur, Double outlet rig... ORPHA:3426
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Prolonged QT interval, Cardiomegaly, Tricuspid regurgitation OMIM:618052
Long Qt Syndrome 3
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:603830
Long Qt Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613688
Long Qt Syndrome 6
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613693
Long Qt Syndrome 5
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613695
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Cough, Dextrocardia, Chronic rhinitis... OMIM:614679
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial septal defect, Oligohydramnios, Ventricular septal defect, Lymphedema, Atrial flutter, Pat... OMIM:601927
Klippel-Trénaunay Syndrome
Hydrops fetalis, Atrial septal defect, Gastrointestinal hemorrhage, Abnormal tricuspid valve morp... ORPHA:90308
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Pleural effusion, Pedal edema, ... ORPHA:330001
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Cardiomyocyte hypertrophy, Death in adolescence, Ventricular tachycardia, Congestive heart failur... OMIM:605676
Cardiomyopathy, Familial Hypertrophic, 13
Right bundle branch block, ST segment depression, Atrial fibrillation, Biventricular hypertrophy,... OMIM:613243
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Congestive heart failure, Ventricular arrhythmia, Reduced systolic function OMIM:609909
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... OMIM:617478
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal heart morphology, Patent ductus arteriosus, Umbilical hernia, Neonatal respiratory distr... OMIM:618164
Uncombable Hair Syndrome 3
Pili canaliculi, Curly hair, Uncombable hair OMIM:617252
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:613172
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Nasal polyposis... OMIM:606763
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect OMIM:125520
Congenital Pseudoarthrosis Of The Clavicle
Dextrocardia, Situs inversus totalis ORPHA:66630
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Paroxysmal supraventricular tachycardia, Abnormal left ven... ORPHA:45452
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Syncope, Prolonged QT interval, Ventricular tachycardia OMIM:614021
Primary Ciliary Dyskinesia
Wheezing, Bronchiectasis, Nasal polyposis, Atrial situs ambiguous, Double outlet right ventricle,... ORPHA:244
Long Qt Syndrome 1
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:192500
Brugada Syndrome 6
Ventricular fibrillation, Cardiac arrest, ST segment elevation OMIM:613119
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta, A... OMIM:615779
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion, Choanal atresia OMIM:613611
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Abnormal hemidiaphragm morphology, ... ORPHA:2257
Brugada Syndrome 7
Atrial flutter, ST segment elevation OMIM:613120
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis OMIM:192600
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Pericardial effusion, Atrial flutter, Atr... ORPHA:300751
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Atrial Septal Defect 5
Atrial septal defect OMIM:612794
Spondylocostal Dysostosis 4, Autosomal Recessive
Restrictive ventilatory defect, Situs inversus totalis, Unilateral vertebral artery hypoplasia, D... OMIM:613686
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Aortic regurgitation, Pulmona... ORPHA:2326
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus, ... OMIM:618316
Familial Atrial Myxoma
Exertional dyspnea, Pedal edema, Vascular dilatation, Cardiac myxoma, Tricuspid regurgitation, Pu... ORPHA:615
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Hypocomplementemic Urticarial Vasculitis
Restrictive ventilatory defect, Dyspnea, Small vessel vasculitis, Abnormal heart valve morphology... ORPHA:36412
Microphthalmia, Syndromic 9
Right aortic arch with mirror image branching, Atrial septal defect, Truncus arteriosus, Single v... OMIM:601186
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Cardiomyopathy, Familial Hypertrophic, 26
Dyspnea, Atrial fibrillation, Left atrial enlargement, Congestive heart failure, Mitral regurgita... OMIM:617047
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Abnormal heart valve morphology, Hypertension, Pulmonary embolism, Congestive heart f... ORPHA:1345
Desminopathy
Fatigable weakness of respiratory muscles, Fatigable weakness of bulbar muscles, Supraventricular... ORPHA:98909
Atrial Standstill
Cardiac conduction abnormality, Muscular dystrophy, Sick sinus syndrome, Skeletal muscle atrophy,... ORPHA:1344
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Situs inversus totalis OMIM:618948
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Cardiac conduction abnormality, Exertional dyspnea, Atrial flutter... ORPHA:99105
Cardiomyopathy, Dilated, 1Kk
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Ventricular septal h... OMIM:615248
Short Qt Syndrome 1
Palpitations, Paroxysmal atrial fibrillation, Shortened QT interval, Sudden cardiac death, Cardia... OMIM:609620
Nathalie Syndrome
Abnormal EKG OMIM:255990
Endocardial Fibroelastosis
Endocardial fibroelastosis, Congestive heart failure, Restrictive cardiomyopathy ORPHA:2022
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Prominent nose OMIM:221950
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Abnormal sputum, Dyspnea, Constrictive pericarditis, Pleural effusion, Cough, Abnor... ORPHA:67
Peripartum Cardiomyopathy
Exertional dyspnea, Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardi... ORPHA:563
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Iris transillumination defect, Hypopigmentation of the skin OMIM:619165
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Tracheal atresia, Patent ductus arteriosus, Respiratory insufficiency, Neonatal death, Bilateral ... OMIM:601612
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Single ventricle, Exertional dyspnea, Respir... ORPHA:99125
Johnson Neuroectodermal Syndrome
Sparse hair, Absent eyelashes, Ventricular septal defect, Patent ductus arteriosus, Absent eyebro... OMIM:147770
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Abnormal heart morphology, Atrial fibrillation, Atrioventricular block, Tac... OMIM:614954
Brugada Syndrome 5
Ventricular fibrillation, Bundle branch block, ST segment elevation OMIM:612838
Cardiac Arrhythmia, Ankyrin-B-Related
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope OMIM:600919
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Systemic Capillary Leak Syndrome
Arrhythmia, Cardiorespiratory arrest, Pericarditis, Hypotension, Pleural effusion, Cough, Pedal e... ORPHA:188
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Adams-Oliver Syndrome 4
Atrial septal defect, Patent ductus arteriosus, Umbilical hernia, Ventricular septal defect OMIM:615297
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Patent ductus arteriosus, Dea... OMIM:618845
Hemorrhagic Fever-Renal Syndrome
Arrhythmia, Gastrointestinal hemorrhage, Intracranial hemorrhage, Pleural effusion, Subconjunctiv... ORPHA:340
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Abdominal situs inversus, Transposition of the great arteries OMIM:614779
Recombinant Chromosome 8 Syndrome
Atrial septal defect, Ventricular septal defect, Camptodactyly, Cerebral atrophy, Patent ductus a... OMIM:179613
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, White forelock OMIM:172850
Long Qt Syndrome 12
Ventricular fibrillation, Prolonged QTc interval, Torsade de pointes, Syncope OMIM:612955
Woolly Hair, Autosomal Recessive 3
Sparse hair, Curly hair, Sparse scalp hair, Trichorrhexis nodosa, Fine hair, Sparse eyelashes OMIM:616760
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Facial palsy OMIM:601382
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Pulmonary artery hypoplasia, Tricuspid regurgitation, Bicuspid aortic val... OMIM:613426
Combined Oxidative Phosphorylation Deficiency 17
Congestive heart failure, Hypertrophic cardiomyopathy OMIM:615440
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Patent ductus arteriosus, Camptodactyly of finger, Wide nasal bridge ORPHA:2863
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Hydrops fetalis, Short nose, Ventricular septal defect, Pleural effusion, Flexion... OMIM:616897
Atrial Septal Defect, Ostium Primum Type
Exertional dyspnea, Decreased pulmonary function, Atrial flutter, Tricuspid regurgitation, Right ... ORPHA:99106
Staphylococcal Necrotizing Pneumonia
Abnormal sputum, Tachypnea, Respiratory distress, Dyspnea, Parenchymal consolidation, Pleural eff... ORPHA:36238
Waardenburg Syndrome, Type 2A
Albinism, Heterochromia iridis, Premature graying of hair, White eyebrow, Synophrys, White eyelas... OMIM:193510
Mitochondrial Complex I Deficiency, Nuclear Type 11
Myopathy, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:618234
Infantile Sialic Acid Storage Disease
Hydrops fetalis, Cerebral atrophy, Fair hair, Congestive heart failure, Death in childhood, Cardi... OMIM:269920
Cardiomyopathy, Dilated, 1D
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... OMIM:601494
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:612347
Scedosporiosis
Pleuritis, Pericarditis, Endocarditis, Pulmonary fibrosis, Decreased pulmonary function, Cough, B... ORPHA:449280
Noonan Syndrome 10
Atrial septal defect, Sparse eyebrow, Ventricular septal defect, Pleural effusion, Curly hair, Pa... OMIM:616564
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Poland Syndrome
Absence of pectoralis minor muscle, Hypoplasia of serratus anterior muscle, Hypoplasia of latissi... OMIM:173800
Bardet-Biedl Syndrome 17
Dextrocardia, Situs inversus totalis OMIM:615994
Sonoda Syndrome
Ventricular septal defect, Depressed nasal bridge OMIM:270460
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Dyspnea, Elevated pu... ORPHA:217607
Combined Oxidative Phosphorylation Deficiency 23
Arrhythmia, Congestive heart failure, Cardiomyopathy OMIM:616198
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Prolonged PR interval, Hypertension OMIM:615378
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Palpitations, Prolonged PR interval, Prolonged QTc interval OMIM:612240
Pulmonary Arteriovenous Malformation
Pulmonary hemorrhage, Pulmonary arteriovenous fistulas, Palpitations, Dyspnea, Ischemic stroke, H... ORPHA:2038
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Death in ... OMIM:613759
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Double... OMIM:220210
Long Qt Syndrome 9
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest OMIM:611818
Distal 7Q11.23 Microdeletion Syndrome
Atrial septal defect, Patent ductus arteriosus ORPHA:254351
Myopathy, Myosin Storage, Autosomal Recessive
EMG: myopathic abnormalities, Centrally nucleated skeletal muscle fibers, Respiratory insufficien... OMIM:255160
Pericardial Effusion, Chronic
Pericardial effusion, Retinal arteriolar tortuosity, Constrictive pericarditis OMIM:260900
Cantu Syndrome
Lymphedema, Pericardial effusion, Congenital, generalized hypertrichosis, Patent ductus arteriosu... OMIM:239850
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Polyhydramnios, Astrocytosis, Atrial septal defect, Facial hypotonia, Wide nasal bridge OMIM:611087
Atrial Standstill 1
Premature atrial contractions, Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibril... OMIM:108770
Capillary Malformation-Arteriovenous Malformation
Abnormality of the musculature of the limbs, Arteriovenous fistula, Cerebral arteriovenous malfor... ORPHA:137667
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Aortic regurgita... OMIM:614980
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Respiratory distress, Ventricular septal defect, Mitral a... OMIM:306955
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Abnormal ciliary motility, Situs inversus totalis, Wheezing, Bronchiectasis,... OMIM:613807
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Congenital Disorder Of Glycosylation, Type Il
Short nose, Global brain atrophy, Pericardial effusion, Cerebellar atrophy, Edema, Ascites, Abnor... OMIM:608776
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Polyhydramnios, Misalignment of the pulmonary veins, Pulmonary insufficiency, Patent ductus arter... OMIM:265380
Malignant Atrophic Papulosis
Arteritis, Ischemic stroke, Gastrointestinal hemorrhage, Pleural effusion, Abnormal pericardium m... ORPHA:679
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White forelock, Hypopi... ORPHA:895
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... OMIM:217095
Aspergillosis
Pleuritis, Bronchiectasis, Intracranial hemorrhage, Cough, Pneumonia, Abnormal tracheobronchial m... ORPHA:1163
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea, Ventricular hypertrophy, Congestive heart failure, Left ventricular hypertrophy, Bradycardia OMIM:619048
Idiopathic Pulmonary Arterial Hypertension
Palpitations, Dyspnea, Elevated pulmonary artery pressure, Increased pulmonary vascular resistanc... ORPHA:275766
Catel-Manzke Syndrome
Ventricular septal defect, Coarctation of aorta, Camptodactyly, Umbilical hernia, Dextrocardia, O... OMIM:616145
Complete Atrioventricular Septal Defect
Wheezing, Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly... ORPHA:1329
Indomethacin Embryofetopathy
Atrial septal defect, Hydrops fetalis, Oligohydramnios, Ventricular septal defect, Respiratory in... ORPHA:1909
Poems Syndrome
Muscle weakness, Restrictive ventilatory defect, Pleural effusion, Pericardial effusion, Erectile... ORPHA:2905
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... ORPHA:79433
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Tor... OMIM:249670
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure, Respiratory failure OMIM:301021
Congenital Enterovirus Infection
Polyhydramnios, Hydrops fetalis, Respiratory distress, Hypotension, Pleural effusion, Pericardial... ORPHA:292
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Partial diaphragmatic absence of pericardium, Palpitations, Atrial septa... ORPHA:2847
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Spina bifida, Coarctation of aorta, Pate... ORPHA:1120
Sandhoff Disease
Muscle weakness, Congestive heart failure, Cherry red spot of the macula, Recurrent respiratory i... ORPHA:796
Maternally-Inherited Diabetes And Deafness
Muscle weakness, Arrhythmia, External ophthalmoplegia, Hypertension, Congestive heart failure, Hy... ORPHA:225
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Abnormal cardiac exercise stress test, Sudden cardiac... ORPHA:101016
Mulibrey Nanism
Hydrops fetalis, Myocardial fibrosis, Hypoplastic frontal sinuses, Wide nasal bridge, Congestive ... OMIM:253250
Lymphatic Malformation 6
Polyhydramnios, Atrial septal defect, Lymphedema, Pleural effusion, Facial edema, Intestinal lymp... OMIM:616843
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Abcd Syndrome
Hearing impairment, Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Dextrocardia, Situs inversus totalis, Hypertension OMIM:613095
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Atrial septal defect, Ventricular septal defect, Congestive heart ... ORPHA:49827
Ventricular Septal Defect 1
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614429
Systemic-Onset Juvenile Idiopathic Arthritis
Pleural effusion, Pericarditis, Joint swelling ORPHA:85414
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Abnormal tricuspid valve morphology, Respiratory insufficiency, Meningoc... ORPHA:1759
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Atrial septal defect, Patent ductus arteriosus, Wide nasal bridge, Pulmonic stenosis, Double outl... ORPHA:3304
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Pericardial effusion, Thick eyebrow, Widow's peak, Wide nasal bridge OMIM:614684
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Abnormal eyebrow morphology, Irregular hyperpigmentation, Heterochromia... ORPHA:2885
Hemochromatosis, Type 2A
Infertility, Arrhythmia, Azoospermia, Dilated cardiomyopathy, Amenorrhea, Congestive heart failur... OMIM:602390
Megabladder, Congenital
Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, P... OMIM:618719
Ventricular Septal Defect 3
Atrial septal defect, Patent ductus arteriosus, Pulmonary artery stenosis, Ventricular septal defect OMIM:614432
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, White forelock OMIM:601706
Uncombable Hair Syndrome 1
Pili canaliculi, Uncombable hair, Dry hair OMIM:191480
16P13.11 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta, Tetralogy of Fallot, Trans... ORPHA:261243
Woolly Hair, Autosomal Dominant
Dry hair, Abnormal hair morphology, Coarse hair, Slow-growing hair, Woolly hair OMIM:194300
Transaldolase Deficiency
Hydrops fetalis, Atrial septal defect, Abnormal respiratory system physiology, Biventricular hype... ORPHA:101028
Brugada Syndrome 4
Shortened QT interval, Atrial fibrillation, Syncope OMIM:611876
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Atrial septal defect, Abnormal heart morphology, Ventricular septal defect, Dou... ORPHA:477817
Ebstein Malformation Of The Tricuspid Valve
Atrial septal defect, Arrhythmia, Abnormal endocardium morphology, Imperforate tricuspid valve, P... ORPHA:1880
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Atrial septal defect, Short nose, Pulmonary arterial hypertension, Tetra... OMIM:300887
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Albinism, Freckles in sun-exposed areas, Red hair, Blue irides, Hypopig... OMIM:203200
Atrial Septal Defect, Ostium Secundum Type
Exertional dyspnea, Atrial flutter, Abnormal left ventricular function, Pneumonia, Tricuspid regu... ORPHA:99103
Eng-Strom Syndrome
Camptodactyly of finger, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Polymyositis
Abnormal muscle fiber morphology, Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Exertion... ORPHA:732
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Ventricular septal defect, Skeletal muscle atrophy, Knee flexion contractur... OMIM:603387
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Dilated cardiomyopathy, Respiratory distress, Arrhythmia, Ventricular septa... ORPHA:26793
Classic Multiminicore Myopathy
Restrictive ventilatory defect, Right ventricular failure, Axial muscle weakness, Increased muscl... ORPHA:324604
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Atrial septal defect, Pericardial lymphangiectasia, Ventricular septal defect, Lymphedema, Pleura... OMIM:235510
Motor Neuron Disease With Dementia And Ophthalmoplegia
Astrocytosis, Cerebral atrophy, Degeneration of anterior horn cells, Respiratory insufficiency, R... OMIM:600333
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Hypertension, Con... OMIM:540000
Immune-Mediated Necrotizing Myopathy
Palpitations, EMG: myopathic abnormalities, Scapular winging, Abnormal pulmonary interstitial mor... ORPHA:206569
Pediatric Systemic Lupus Erythematosus
Muscle weakness, Dyspnea, Pleural effusion, Pericardial effusion, Edema, Ascites, Alopecia, Myosi... ORPHA:93552
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Congestive heart failure, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy OMIM:617222
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect OMIM:617992
Elejalde Disease
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Arthrogryposis multiplex congenita, Spinal muscular atrophy, Oligohydramnios, Secundum atrial sep... OMIM:616866
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin ORPHA:2786
Congenital Muscular Dystrophy Due To Lmna Mutation
Arrhythmia, Flexion contracture, Death in infancy, Respiratory insufficiency, Congestive heart fa... ORPHA:157973
8p23.1 deletion syndrome
Atrioventricular canal defect, Atrial septal defect, Congenital diaphragmatic hernia, Abnormal he... DECIPHER:39
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Albinism, Patchy hypo- and hyperpigmentation OMIM:300700
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Contractures of the large joints, Atrial flutter, Congestive heart failure, Cardiomegaly OMIM:300886
Naxos Disease
Arrhythmia, Curly hair, Sudden cardiac death, Sparse scalp hair, Congestive heart failure, Paroxy... ORPHA:34217
Kaposiform Lymphangiomatosis
Abnormal lung morphology, Dyspnea, Epidural hemorrhage, Pleural effusion, Pericardial effusion, C... ORPHA:464329
Floating-Harbor Syndrome
Atrial septal defect, Hirsutism, Long eyelashes, Umbilical hernia, Mesocardia, Coarctation of aor... OMIM:136140
Combined Oxidative Phosphorylation Deficiency 28
Muscle weakness, Polyhydramnios, Congestive heart failure, Respiratory failure, Ragged-red muscle... OMIM:616794
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Muscle weakness, Ventricular septal defect, Pericardial effusion, Hyperventilation, Alopecia tota... OMIM:618775
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Astrocytosis, Congenital muscular dystrophy, Pontocerebellar atrophy, Muscular dystrophy, Respira... ORPHA:258
Timothy Syndrome
Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus, Pneumonia, Cardiomegal... OMIM:601005
Fetal Minoxidil Syndrome
Ventricular septal defect, Umbilical hernia, Depressed nasal bridge ORPHA:1918
Hadziselimovic Syndrome
Ventricular hypertrophy, Atrial septal defect, Anteverted nares, Ventricular septal defect, Pulmo... OMIM:612946
Barth Syndrome
Arrhythmia, Endocardial fibroelastosis, Skeletal myopathy, Congestive heart failure, Dilated card... OMIM:302060
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Camptodactyly of finger, Arrhythmia, Oligohydramnios, Flexion contracture, Abnormal aortic valve ... ORPHA:1194
Atrial Septal Defect 4
Patent foramen ovale, Atrial septal defect, Coarctation of aorta OMIM:611363
Meacham Syndrome
Pulmonary sequestration, Anomalous pulmonary venous return, Atrial septal defect, Situs inversus ... ORPHA:3097
Congenital Aortic Valve Stenosis
Aortic valve atresia, Reduced ejection fraction, Endocarditis, Abnormal pulse pressure, Angina pe... ORPHA:3093
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Granulomatous coronary arteritis, Pleural effusion, Pericardial effusion, Hypertension, Vascular ... OMIM:108050
Cranioacrofacial Syndrome
Pulmonic stenosis, Dupuytren contracture, Ventricular septal defect OMIM:122850
Avian Influenza
Ground-glass opacification, Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive... ORPHA:454836
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Bulbous nose, Underdeveloped nasal alae, Ventricul... OMIM:192430
Familial Cutaneous Collagenoma
Angina pectoris, Atrial septal defect, Congestive heart failure, Cardiomyopathy ORPHA:53296
Tularemia
Abnormal nasopharyngeal adenoid morphology, Respiratory distress, Pleural effusion, Cough, Pneumo... ORPHA:3392
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Atrial fibrillation, Prolonged PR inter... OMIM:108900
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Premature coronary artery atherosclerosis, Oligospermia, Hypertension, ... OMIM:615703
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Low-output congestive heart failure, Respiratory distress, Hypertrophic cardiomyopathy ORPHA:91130
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortened PR inte... OMIM:261740
Sporadic Creutzfeldt-Jakob Disease
Astrocytosis, Gliosis, Respiratory failure requiring assisted ventilation, Cerebral atrophy, Recu... ORPHA:204
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation OMIM:614672
Autosomal Dominant Coarctation Of Aorta
Ventricular septal defect, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic... ORPHA:1455
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Supernumerary nipple, Tricuspid regurgitation, Synophrys, Dextrocardia, Coarctation of aorta, Atr... OMIM:618929
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Weakness of muscles of respiration, Amyotrophic lateral sclerosis, ... ORPHA:52430
Brugada Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged PR interval, First degree atrioventricu... OMIM:611777
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Q Fever
Endocarditis, Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pleural effusi... ORPHA:781
Lymphangiectasia, Pulmonary, Congenital
Polyhydramnios, Palpebral edema, Pleural effusion, Pedal edema, Bronchodysplasia, Wide nasal brid... OMIM:265300
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Truncus arteriosus, Short nose, Abnormal heart morphology, Ventricular sept... ORPHA:401935
Butyrylcholinesterase Deficiency
Myocardial infarction, Respiratory failure requiring assisted ventilation, Respiratory failure, C... ORPHA:132
Optic Atrophy 8
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Prolonged somatosensory ev... OMIM:616648
Chromosome 15Q25 Deletion Syndrome
Dextrocardia, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia OMIM:614294
8P23.1 Duplication Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Wide nose, Ventricular septal defect ORPHA:251076
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Hydrops fetalis, Absent eyelashes, Palpebral edema, Plantar telangiectasia, Pleural effusion, Abs... ORPHA:69735
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Heterotaxy OMIM:601086
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Hypoventilation, Arrhythmia, Muscular dystrophy, Flexion contracture, Respiratory i... OMIM:310200
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Arthrogryposis multiplex congenita, Atrial septal defect, Ventricular septal defect, Camptodactyl... OMIM:614262
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Bulbous nose, Coarctation of aorta, Patent ductus arteriosus, Bicuspid aortic... OMIM:612474
Piebald Trait
Heterochromia iridis, Partial albinism, White forelock, Absent pigmentation of the ventral chest,... OMIM:172800
Meige Disease
Edema of the dorsum of hands, Lymphedema, Pleural effusion, Peripheral edema, Pedal edema, Facial... ORPHA:90186
Cardiac-Urogenital Syndrome
Scimitar anomaly, Atrial septal defect, Ventricular septal defect, Dysplastic tricuspid valve, Pa... OMIM:618280
Diamond-Blackfan Anemia 16
Pulmonic stenosis, Atrial septal defect OMIM:617408
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Oligohydramnios, Stillbirth, Pulmonic stenosis, Aorti... OMIM:615415
Xk Aprosencephaly Syndrome
Polyhydramnios, Ventricular septal defect, Atrial septal defect, Abnormality of the pharynx ORPHA:3469
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... OMIM:613838
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Muscle weakness, Dyspnea, Hypertension, Progressive external ophthalmoplegia, Congestive heart fa... ORPHA:1349
Hemochromatosis, Type 2B
Congestive heart failure, Cardiomyopathy OMIM:613313
Microphthalmia, Syndromic 12
Ventricular septal defect, Hypoplastic left atrium, Wide nasal bridge, Pulmonary hypoplasia, Cong... OMIM:615524
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Parenchymal consolidation, Pleural effusion, Exertional dyspne... ORPHA:723
Ciliary Dyskinesia, Primary, 36, X-Linked
Situs inversus totalis, Bronchiectasis, Cough, Recurrent sinusitis, Neonatal respiratory distress... OMIM:300991
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Truncus arteriosus, Ventricular septal defect, Respiratory insufficiency, Neonatal death, Respira... OMIM:228940
Dyskinesia, Familial, With Facial Myokymia
Dilated cardiomyopathy, Facial myokymia, Congestive heart failure, Limb hypertonia OMIM:606703
Eosinophilic Granulomatosis With Polyangiitis
Nasal polyposis, Cough, Respiratory insufficiency, Sinusitis, Myocarditis, Myositis, Transient is... ORPHA:183
Waardenburg Syndrome, Type 4A
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:277580
Ciliary Dyskinesia, Primary, 23
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Productive cough... OMIM:615451
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Contractures of the interphalangeal joint of the thumb, Short nose, Bulbous... OMIM:613870
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Muscle weakness, Macroglossia, Atrial septal defect, Underdeveloped nasal alae, Abnormal heart mo... ORPHA:453499
Follicular Lymphoma
Lymphedema, Pleural effusion ORPHA:545
Thymic Aplasia With Fetal Death
Pulmonary hypoplasia, Truncus arteriosus, Stillbirth OMIM:274210
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Heterochromia iridis, Premature graying of hair ORPHA:66633
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... OMIM:108950
Catel-Manzke Syndrome
Camptodactyly of finger, Atrial septal defect, Ventricular septal defect ORPHA:1388
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Pontocerebellar Hypoplasia, Type 13
Sleep apnea, Pleural effusion, Long eyelashes, Edema, Asthma, Low posterior hairline, Anteverted ... OMIM:618606
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Bulbous nose, Atrial flutter, Contractures of the large joints, Abnormal atrioventricular valve m... ORPHA:324410
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Short chordae tendineae of the mitral valve, Conge... OMIM:314400
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Facial myokymia, Congestive heart failure, Limb hypertonia ORPHA:324588
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Arrhythmia, Oligohydramnios, Ventricular septal defect, Patent ductus arteriosus, Respiratory ins... OMIM:617021
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Prolonged QTc interval, Syncope, Cardiogenic shock, Decreased QRS voltage... ORPHA:66529
Noonan Syndrome 11
Atrial septal defect, Bulbous nose, Pulmonic stenosis, Depressed nasal bridge, Hypertrophic cardi... OMIM:618499
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Abnormal aortic morphology, Respiratory insufficiency, Congenital diap... ORPHA:1166
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Polyhydramnios, Atrial septal defect, Facial hypotonia, Decreased muscle mass, Congestive heart f... ORPHA:500533
Pseudoxanthoma Elasticum
Accelerated atherosclerosis, Gastrointestinal hemorrhage, Intermittent claudication, Angina pecto... OMIM:264800
Lymphoproliferative Syndrome 1
Pleural effusion, Pericardial effusion OMIM:613011
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Mitral regurgitation, P... OMIM:612561
Thiamine-Responsive Megaloblastic Anemia Syndrome
Arrhythmia, Atrial septal defect, Situs inversus totalis, Ventricular septal defect, Cardiomyopathy OMIM:249270
Erdheim-Chester Disease
Dyspnea, Joint swelling, Pulmonary fibrosis, Pleural effusion, Cough, Abnormal aortic valve morph... ORPHA:35687
Cednik Syndrome
Hypogonadism, Poor head control, Prominent nasal bridge, Congestive heart failure ORPHA:66631
Giant Cell Arteritis
Muscle weakness, Vasculitis, Arrhythmia, Pericarditis, Abnormal pleura morphology, Cough, Aortic ... ORPHA:397
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Mitral regurgitation, Abnormal cardiac septum morphology, Abnormal nas... ORPHA:83473
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve ORPHA:228190
Familial Aortic Dissection
Descending thoracic aorta aneurysm, Carotid artery dilatation, Aortic regurgitation, Exertional d... ORPHA:229
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ventricular septal hypertrophy, Ventricular septal defect OMIM:614947
Drug-Induced Lupus Erythematosus
Pericardial effusion, Dyspnea, Pericarditis, Prolonged QTc interval ORPHA:231111
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Short nose, Bulbous nose, Ventricular septal defect, Camptodactyly OMIM:613458
Primary Intestinal Lymphangiectasia
Hydrops fetalis, Lymphedema, Pleural effusion, Pericardial effusion, Pedal edema, Chylous ascites ORPHA:90362
Mucopolysaccharidosis-Plus Syndrome
Low anterior hairline, Macroglossia, Atrial septal defect, Respiratory distress, Hirsutism, Paten... OMIM:617303
Pparg-Related Familial Partial Lipodystrophy
Prominent veins on trunk, Oligomenorrhea, Marked muscular hypertrophy, Skeletal muscle hypertroph... ORPHA:79083
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Atrial septal defect OMIM:614868
Ciliary Dyskinesia, Primary, 16
Abnormal ciliary motility, Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Pulmonary ... OMIM:614017
Lymphangioleiomyomatosis
Restrictive ventilatory defect, Dyspnea, Gastrointestinal hemorrhage, Lymphedema, Emphysema, Coug... ORPHA:538
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Hypotension, Pleural effusion, Respiratory failure, Pulmon... ORPHA:542323
Familial Infantile Bilateral Striatal Necrosis
Astrocytosis, Basal ganglia gliosis, Atrophy/Degeneration involving the caudate nucleus, Lower li... ORPHA:225154
Mosaic Trisomy 9
Polyhydramnios, Camptodactyly of finger, Spina bifida, Hydrops fetalis, Atrial septal defect, Bul... ORPHA:99776
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Naxos Disease
Ventricular arrhythmia, Palpitations, Onycholysis, Prolonged QRS complex, T-wave inversion, Curly... OMIM:601214
Ciliary Dyskinesia, Primary, 40
Cough, Situs inversus totalis, Abnormal heart morphology, Rhinitis OMIM:618300
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Sparse hair, Premature graying of hair, Absent eyelashes, Mitral valve c... ORPHA:363618
Polysyndactyly With Cardiac Malformation
Polyhydramnios, Atrial septal defect, Stillbirth, Ventricular septal defect, Anteverted nares OMIM:263630
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
Peroxisome Biogenesis Disorder 12A (Zellweger)
Atrial septal defect, Cerebral atrophy, Patent ductus arteriosus, Abnormality of the hairline, Wi... OMIM:614886
Progressive Non-Fluent Aphasia
Astrocytosis, Senile plaques, Temporal cortical atrophy, Frontotemporal cerebral atrophy ORPHA:100070
Peroxisome Biogenesis Disorder 8A (Zellweger)
Death in infancy, Ventricular septal defect OMIM:614876
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Hypoplastic toenails, Sparse eyebrow, Sparse hair, Sparse eyelashes, Ventricular septal defect, D... OMIM:616901
Urocanase Deficiency
Blue irides, Fair hair OMIM:276880
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Hydrops fetalis, Pericarditis, Oligohydramnios, Congestive heart failure ORPHA:163596
Grange Syndrome
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Arterial... ORPHA:79094
Chédiak-Higashi Syndrome
Muscle weakness, Iris hypopigmentation, Abnormality of retinal pigmentation, Hypopigmentation of ... ORPHA:167
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Polyhydramnios, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Flexion contracture,... OMIM:616867
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure OMIM:236750
Proximal Spinal Muscular Atrophy
Distal upper limb muscle weakness, Triceps weakness, Skeletal muscle atrophy, Elbow flexion contr... ORPHA:70
Hypoplastic Left Heart Syndrome
Atrial septal defect, Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplas... ORPHA:2248
Carnitine Deficiency, Systemic Primary
Reduced muscle carnitine level, Endocardial fibroelastosis, Congestive heart failure, Cardiomegal... OMIM:212140
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiomegaly, Cardiogenic ... ORPHA:75565
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Ventricular septal defect OMIM:616277
Ciliary Dyskinesia, Primary, 3
Situs inversus totalis, Bronchiectasis, Ciliary dyskinesia, Recurrent sinusitis, Neonatal respira... OMIM:608644
Fetal Trimethadione Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Tetralogy of Fallot, Transposition o... ORPHA:1913
Maternal Uniparental Disomy Of Chromosome X
Camptodactyly of finger, Azoospermia, Flexion contracture, Predominantly lower limb lymphedema, C... ORPHA:261519
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect, Abnormal aortic morphol... ORPHA:2516
Tetralogy Of Fallot
Tetralogy of Fallot, Abnormal nasal morphology ORPHA:3303
Testicular Anomalies With Or Without Congenital Heart Disease
Tetralogy of Fallot OMIM:615542
14Q11.2 Microdeletion Syndrome
Highly arched eyebrow, Short nose, Ventricular septal defect, Melanocytic nevus, Patent ductus ar... ORPHA:261120
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Atrial septal defect, Patent ductus arteriosus, Hypertension, Bicuspid aortic valve, Pulmonary ar... OMIM:613355
15Q11.2 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta,... ORPHA:261183
Aneurysm Of Sinus Of Valsalva
Dyspnea, Aortic regurgitation, Cough, Dilatation of the sinus of Valsalva, Heart murmur, Congesti... ORPHA:1054
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Ventricular septal defect, Paroxysmal at... ORPHA:392
Shashi-Pena Syndrome
Atrial septal defect, Broad nasal tip OMIM:617190
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... OMIM:607450
Inherited Creutzfeldt-Jakob Disease
Muscle weakness, Astrocytosis, Global brain atrophy, Senile plaques, Central nervous system degen... ORPHA:282166
Johanson-Blizzard Syndrome
Short nose, Underdeveloped nasal alae, Death in infancy, Dextrocardia, Edema, Alopecia, Abnormal ... ORPHA:2315
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Atrial septal defect, Ventricular septal defect, Abnormality of the larynx, Patent ductus arterio... OMIM:608406
Familial Partial Lipodystrophy, Dunnigan Type
Abnormality of the nail, Skeletal muscle hypertrophy, Atherosclerosis, Coronary artery atheroscle... ORPHA:2348
Gm1-Gangliosidosis, Type I
Hydrops fetalis, Abnormal heart valve morphology, Death in infancy, Congestive heart failure, Hyp... OMIM:230500
Neuroectodermal Melanolysosomal Disease
Generalized hyperpigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Premature ... ORPHA:33445
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Tricuspid regurgitatio... OMIM:618652
Filippi Syndrome
Sparse hair, Underdeveloped nasal alae, Ventricular septal defect, Wide nasal bridge, Cerebellar ... OMIM:272440
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Ventricular hypertrophy, Arrhythmia, Cardiomyocyte hypertrophy, T-wave inversion, V... ORPHA:263297
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Heterochromia iridis, Partial albinism, Hypopigmented skin patches, ... ORPHA:998
Combined Oxidative Phosphorylation Defect Type 23
Severely reduced ejection fraction, Wolff-Parkinson-White syndrome, Congestive heart failure, Rig... ORPHA:444013
Coffin-Siris Syndrome 10
Ventricular septal defect, Anteverted nares, Laryngomalacia OMIM:618506
Aortic Valve Disease 1
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... OMIM:109730
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Patent ductus arteriosus, Bicuspid aortic valve OMIM:604381
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormal motor evoked pote... ORPHA:320401
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Ventricular septal defect, Hypertension, Bicuspid aortic valve, Atrioventri... ORPHA:371428
Ellis Van Creveld Syndrome
Atrial septal defect, Situs inversus totalis, Hypoplastic toenails, Abnormality of the nail, Vent... ORPHA:289
Juvenile Idiopathic Arthritis
Abnormal pleura morphology, Pericardial effusion, Joint swelling ORPHA:92
Diarrhea 10, Protein-Losing Enteropathy Type
Polyhydramnios, Anasarca, Hematochezia, Pleural effusion, Pericardial effusion, Ascites OMIM:618183
Multiple Acyl-Coa Dehydrogenase Deficiency
Restrictive ventilatory defect, Arrhythmia, Dyspnea, Cardiorespiratory arrest, Gliosis, Abnormal ... ORPHA:26791
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Endocardial fibroelastosis, Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlarg... OMIM:619313
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Polyhydramnios, Arthrogryposis multiplex congenita, Small nail, Ventricular septal defect, Global... OMIM:301056
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failure, Prolonged QT interv... OMIM:610198
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Atrioventricular Septal Defect 3
Inlet ventricular septal defect, Midsystolic murmur, Atrioventricular canal defect, Hypertension,... OMIM:600309
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Wheezing, Cough, Elevated bronchoalveolar lavage fluid neutrophil proportion, Ground-glass opacif... OMIM:610978
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Prominent nasal bridge... OMIM:618974
Hypertelorism And Tetralogy Of Fallot
Tetralogy of Fallot with absent pulmonary valve, Patent ductus arteriosus, Spina bifida occulta, ... OMIM:239711
American Trypanosomiasis
Arrhythmia, Dyspnea, Cough, Congestive heart failure, Edema, Myocarditis, Periorbital edema, Card... ORPHA:3386
Waldenström Macroglobulinemia