Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
MUS81 structure-specific endonuclease subunit
Synonyms:
1200008A18Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Mus81 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 Mus81 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Fibromuscular Dysplasia, Arterial
Myocardial infarction, Aortic dissection, Renovascular hypertension, Intermittent claudication, A... OMIM:135580
Aortic Aneurysm, Familial Thoracic 4
Posterior cerebral artery stenosis, Aortic regurgitation, Patent ductus arteriosus, Abnormal left... OMIM:132900
Familial Aortic Dissection
Mucoid extracellular matrix accumulation, Aortic regurgitation, Patent ductus arteriosus, Abnorma... ORPHA:229
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Myxomatous mitral valve degeneration, Aortic regurgitation, Subvalvular aort... OMIM:614980
Hypoplastic Left Heart Syndrome 1
Hypoplastic left heart, Aortic valve stenosis, Coarctation of aorta OMIM:241550
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Coarctation of aorta, Hypoplastic left heart, Ventricular septal defect, Atr... OMIM:615779
Congenital Aortic Valve Stenosis
Abnormal T-wave, Abnormal pulse pressure, Reduced ejection fraction, Abnormal left ventricular fu... ORPHA:3093
Fixed Subaortic Stenosis
Pulmonary venous hypertension, Ventricular septal defect, Atrioventricular canal defect, Mitral r... ORPHA:3092
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Familial Cerebral Saccular Aneurysm
Aortic root aneurysm, Abnormal circle of Willis morphology, Aortic dissection, Intracranial hemor... ORPHA:231160
Rhabdoid Tumor Predisposition Syndrome 2
Carcinoma, Neoplasm of the central nervous system OMIM:613325
Internal Carotid Arteries, Hypoplasia Of
Cerebral ischemia, Internal carotid artery hypoplasia OMIM:243100
Aorto-Ventricular Tunnel
Abnormal heart valve morphology, Aortic root aneurysm, Congestive heart failure, Heart murmur, Ab... ORPHA:3400
Grange Syndrome
Aortic regurgitation, Patent ductus arteriosus, Hypertension, Ventricular septal defect, Arterial... ORPHA:79094
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Coronary artery atherosclerosis, Hypertension, Cardiomegaly, Bruising susceptibility, Aortic regu... ORPHA:91387
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Hypoplastic left heart, Mitral regurgitation, Anomalous pulmonary ... ORPHA:1330
Periventricular Nodular Heterotopia
Abnormal heart valve morphology, Aortic regurgitation, Patent ductus arteriosus, Aortic aneurysm,... ORPHA:98892
Aortic Aneurysm, Familial Thoracic 9
Thoracic aortic aneurysm, Atrial fibrillation, Aortic tortuosity, Ascending aortic dissection, Mi... OMIM:616166
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle,... OMIM:617912
Coronary Arterial Fistula
Coronary artery aneurysm, Pedal edema, Cardiomegaly, Patent foramen ovale, Arrhythmia, Abnormal l... ORPHA:2041
Coarctation Of Aorta
Coarctation of aorta OMIM:120000
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Patent ductus arteriosus, Congestive heart failure, Left ventricu... OMIM:604169
Aortic Valve Disease 3
Atrial septal defect, Aortic valve stenosis, Bicuspid aortic valve, Aortic root aneurysm OMIM:618496
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Ascending aortic dissection, Aortic regurgitation, Coarctation of aorta, Hy... ORPHA:402075
Distal Trisomy 14Q
Abnormal lung lobation, Abnormal aortic morphology, Patent ductus arteriosus ORPHA:1705
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Marfanoid Hypermobility Syndrome
Mitral regurgitation, Aortic aneurysm, Aortic regurgitation OMIM:154750
Idiopathic Bronchiectasis
Emphysema, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Crackles, Respiratory ... ORPHA:60033
Aortic Aneurysm, Familial Thoracic 6
Moyamoya phenomenon, Thoracic aortic aneurysm, Descending aortic dissection, Aortic aneurysm, Asc... OMIM:611788
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia, Decreased circulating antibody level OMIM:615206
Aortic Aneurysm, Familial Thoracic 8
Abdominal aortic aneurysm, Descending aortic dissection, Coronary artery aneurysm, Ascending aort... OMIM:615436
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Aortic Arch Interruption
Right bundle branch block, Double outlet right ventricle, Single ventricle, Hypertension, Ventric... ORPHA:2299
Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified
Aortic aneurysm, Mucoid extracellular matrix accumulation, Myxomatous mitral valve degeneration, ... OMIM:130090
Bronchopulmonary Dysplasia
Emphysema, Abnormal respiratory system physiology, Respiratory failure requiring assisted ventila... ORPHA:70589
Laubry-Pezzi Syndrome
Aortic regurgitation, Abnormal aortic valve cusp morphology, Congestive heart failure, Patent for... ORPHA:99094
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Red... ORPHA:79127
Loeffler Endocarditis
Left ventricular diastolic dysfunction, Myocardial fibrosis, Aortic regurgitation, Arrhythmia, Co... ORPHA:75566
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Chronic pulmonary obstruction, Panacinar emphysema, Wheezing OMIM:613490
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Cerebral berry aneurysm OMIM:210050
Moyamoya Disease 5
Ascending tubular aorta aneurysm, Moyamoya phenomenon OMIM:614042
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Aortic root aneurysm, Situs inversus totalis, Pulmonic stenosis, Mitral val... OMIM:609008
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection OMIM:617349
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Left ventricular noncompaction, Reduced ejection fraction, Aortic regurgitation, Patent ductus ar... OMIM:616501
Aortic Aneurysm, Familial Abdominal, 1
Abdominal aortic aneurysm OMIM:100070
Cardiac Diverticulum
Premature ventricular contraction, Tricuspid atresia, Pulmonary artery hypoplasia, Diastasis rect... ORPHA:1686
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Abnormality of blood circulation, Ventricular septal defect, Hy... ORPHA:860
Bare Lymphocyte Syndrome, Type I
Emphysema, Bronchiolitis, Recurrent bronchitis, Bronchiectasis, Chronic otitis media, Chronic sin... OMIM:604571
Arterial Tortuosity Syndrome
Bruising susceptibility, Flexion contracture, Aortic regurgitation, Generalized arterial tortuosi... OMIM:208050
Mass Syndrome
Aortic aneurysm, Ascending aortic dissection, Mitral valve prolapse OMIM:604308
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent otitis media, Pneumonia, Recurrent skin infectio... OMIM:613953
Nephronophthisis 16
Enlarged kidney, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Situs inversus totalis, P... OMIM:615382
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Sudden cardiac ... OMIM:601493
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Congestive heart failure, Bacterial endocarditis, Heart murmur, Dilatation ... ORPHA:1054
Allergic Bronchopulmonary Aspergillosis
Emphysema, Asthma, Cough, Bronchiectasis, Pulmonary arterial hypertension, Respiratory insufficiency ORPHA:1164
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Dandy-Walker Malformation With Postaxial Polydactyly
Aortic valve stenosis, Vascular dilatation, Patent ductus arteriosus OMIM:220220
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Aortic regurgitation, Pulmonary insufficiency, Congestive heart failure, ... ORPHA:2326
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Ascending tubular aorta aneurys... ORPHA:3287
Li-Fraumeni Syndrome 2
Sarcoma, Breast carcinoma, Meningioma, Stomach cancer, Glioma OMIM:609265
Sarcoidosis, Susceptibility To, 2
Emphysema, Restrictive ventilatory defect, Uveitis, Erythema nodosum, Hypoxemia, Elevated broncho... OMIM:612387
Chromosomal Instability With Tissue-Specific Radiosensitivity
Abnormality of chromosome stability, Neoplasm OMIM:215510
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Tetralogy of Fallot, Subvalvular aortic stenosis, Atrial fibrillation, Ven... OMIM:108900
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Macroglossia, Ventricular septal defect, Mitral regurgitation, Cardi... ORPHA:363705
Truncus Arteriosus
Pulmonary artery hypoplasia, Single coronary artery origin, Abnormal superior vena cava morpholog... ORPHA:3384
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Ventricular arr... OMIM:613424
Tangier Disease
Left ventricular hypertrophy, Myocardial infarction, Splenomegaly, Hepatomegaly, Coronary artery ... OMIM:205400
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Hypertrophic cardiomyopathy, Hepatomegaly, Pulmonic stenosis, Situs inversus tot... OMIM:615415
Aorta Coarctation
Tetralogy of Fallot, Cardiomegaly, Coarctation of the descending aortic arch, Patent ductus arter... ORPHA:1457
Alpha-1-Antitrypsin Deficiency
Emphysema, Hepatitis ORPHA:60
Meester-Loeys Syndrome
Flexion contracture, Pulmonary artery aneurysm, Aortic dissection, Dilatation of the cerebral art... OMIM:300989
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Sudden cardiac death, Left atrial enlar... OMIM:115210
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hematochezia, Cerebral arteriovenous malformation, Aortic dissection, Hepatic arteriovenous malfo... OMIM:175050
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Decreased nasal nitric oxide, Cough, Double outlet right ventricle, Bronc... OMIM:618254
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Stomatitis OMIM:618307
Atrial Septal Defect 1
Second degree atrioventricular block, Atrial septal defect, Subvalvular aortic stenosis, Atrial s... OMIM:108800
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Short chordae tendineae of the mitral valve, Congestive heart failure, Bicu... OMIM:314400
Temtamy Syndrome
Aortic aneurysm, Aortic regurgitation OMIM:218340
Internal Carotid Absence
Cerebral ischemia, Dilatation of the cerebral artery, Subarachnoid hemorrhage ORPHA:981
Igg4-Related Aortitis
Abnormal aortic arch morphology, Thoracic aortic aneurysm, Dilated left subclavian artery, Aortic... ORPHA:449400
Atrial Fibrillation, Familial, 13
Paroxysmal atrial fibrillation, Aortic valve stenosis, Left atrial enlargement OMIM:615377
Melanoma-Pancreatic Cancer Syndrome
Squamous cell carcinoma, Sarcoma, Melanoma, Oropharyngeal squamous cell carcinoma, Pancreatic ade... OMIM:606719
N Syndrome
Abnormality of chromosome stability, Leukemia, Neoplasm OMIM:310465
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Cardiomyopathy, Arrhythmia, Mitral valve prolapse OMIM:614676
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Congestive heart failure, Aortic root aneurysm, Mitral valve calcification... ORPHA:363618
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Abnormal aortic valve cusp morphology, Third degree atrioventricular block, Dextrocar... ORPHA:216694
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Abdominal aortic aneurysm, Aortic root aneurysm, Coronary artery atheroscle... OMIM:617168
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Bruising susceptibility, Elbow flexion contracture, Congestive heart failure, Muscle fiber atroph... ORPHA:1900
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Absent muscle dystrophin expression, Congestive heart failure, Abnormalit... ORPHA:206546
Loeys-Dietz Syndrome 4
Bruising susceptibility, Aortic root aneurysm, Aortic dissection, Bicuspid aortic valve, Arterial... OMIM:614816
Phosphoribosylpyrophosphate Synthetase Superactivity
Abnormal aortic morphology, Cardiomyopathy, Hypertension, Arrhythmia ORPHA:3222
Giant Cell Arteritis
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:397
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Cardiomyopathy, Dilated, 1Kk
Ventricular septal hypertrophy, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic ca... OMIM:615248
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiomyopathy, Left atrial enla... OMIM:611556
Aortic Valve Disease 1
Double outlet right ventricle, Mitral stenosis, Ventricular septal defect, Bicuspid aortic valve,... OMIM:109730
Aneurysm, Intracranial Berry, 12
Internal carotid artery dissection, Cerebral berry aneurysm, Subarachnoid hemorrhage, Arterial fi... OMIM:618734
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Defective DNA repair after ultraviolet radiation damage OMIM:194400
Cerebral Sarcoma
Fibrosarcoma, Neoplasm OMIM:117600
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Cardiac arrest, Endocardial fibroelastosi... OMIM:612158
Ritscher-Schinzel Syndrome 1
Tetralogy of Fallot, Atrial septal defect, Double outlet right ventricle, Pulmonic stenosis, Hypo... OMIM:220210
Cardiac-Valvular Ehlers-Danlos Syndrome
Bruising susceptibility, Abnormal heart valve morphology, Aortic regurgitation, Pulmonary insuffi... ORPHA:230851
Distal 7Q11.23 Microduplication Syndrome
Aortic aneurysm, Congenital diaphragmatic hernia, Patent ductus arteriosus ORPHA:261102
Arterial Tortuosity Syndrome
Abnormal myocardium morphology, Dilated cardiomyopathy, Cardiac arrest, Congestive heart failure,... ORPHA:3342
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Attrv122I Amyloidosis
Cardiomegaly, Reduced ejection fraction, Arrhythmia, Congestive heart failure, Tendon rupture, Ab... ORPHA:85451
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Respiratory insufficiency, Coarctation of aorta, Bilateral lung agenesis, Patent ductus arteriosus OMIM:601612
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Right ventricular dilatation, Reduced ejection fraction, A... ORPHA:217607
Atrial Septal Defect, Ostium Primum Type
Right atrial enlargement, Right bundle branch block, Atrial fibrillation, Third heart sound, Mitr... ORPHA:99106
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Congestive heart failure, Ventricular ... OMIM:600884
Cardiogenic Shock
ST segment elevation, Impaired myocardial contractility, Cardiac arrest, Elevated jugular venous ... ORPHA:97292
Fanconi Anemia, Complementation Group D1
Chromosomal breakage induced by crosslinking agents, T-cell acute lymphoblastic leukemias, Acute ... OMIM:605724
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Tetralogy of Fallot, Abnormal ao... ORPHA:99050
Aortic Valve Disease 2
Calcification of the aorta, Aortic aneurysm, Bicuspid aortic valve, Coarctation of aorta OMIM:614823
Isotretinoin-Like Syndrome
Abnormal aortic arch morphology, Patent ductus arteriosus, Conotruncal defect, Abnormal cardiac a... ORPHA:2306
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Cerebral hemorrhage, ST segment depression, Ischemic stroke, Myocardial... ORPHA:90065
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomalous pulmonary venous ret... OMIM:613854
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Carcinoma OMIM:603641
Cap Myopathy
Lower limb amyotrophy, Reduced systolic function, Sinus tachycardia, Aortic root aneurysm, Lower ... ORPHA:171881
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Tachypnea, Nodular pattern on pulmonary HRCT, Crazy paving pattern, Honeycomb lung, Co... OMIM:610921
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Atrial fibrilla... OMIM:601494
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Increased circulating IgG level, Pleural thickening, Asthma, Increased circulati... OMIM:619632
Polyvalvular Heart Disease Syndrome
Abnormal heart valve morphology, Arrhythmia, Pulmonic stenosis, Mitral valve prolapse, Tricuspid ... ORPHA:228410
Singleton-Merten Syndrome 2
Aortic valve stenosis OMIM:616298
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration ORPHA:122
Scheie Syndrome
Aortic valve stenosis, Aortic regurgitation OMIM:607016
Acquired Von Willebrand Syndrome
Persistent bleeding after trauma, Bruising susceptibility, Aortic valve stenosis, Gastrointestina... ORPHA:99147
Congenital Heart Defects, Multiple Types, 7
Tetralogy of Fallot, Pulmonic stenosis, Right aortic arch, Pulmonary artery atresia, Double aorti... OMIM:618780
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Bruising susceptibility, Aortic dissection, Abnormal heart morphology, Camptodactyly, Varicose ve... OMIM:618343
Williams-Beuren Syndrome (WBS)
Aortic valve stenosis DECIPHER:3
Congenital Tracheomalacia
Tracheomalacia, Productive cough, Wheezing, Emphysema, Recurrent upper respiratory tract infectio... ORPHA:95430
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Recurrent respiratory infections, Ascending tubular aorta aneurysm, Vascular tortuosity OMIM:219100
Kleefstra Syndrome Due To 9Q34 Microdeletion
Tetralogy of Fallot, Aortic regurgitation, Conotruncal defect, Coarctation of aorta, Macroglossia... ORPHA:96147
Cardiomyopathy, Familial Hypertrophic, 8
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... OMIM:608751
Supravalvular Aortic Stenosis
Pulmonary artery stenosis, Peripheral arterial stenosis, Supravalvular aortic stenosis, Pulmonic ... OMIM:185500
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Congestive heart ... OMIM:540000
Paget Disease Of Bone 6
Left ventricular hypertrophy, Coronary artery atherosclerosis OMIM:616833
Noonan Syndrome 8
Patent ductus arteriosus, Atrial septal defect, Hypertrophic cardiomyopathy, Pleural effusion, Pu... OMIM:615355
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Atrial Fibrillation, Familial, 10
Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgitation, Left ventricular hypertr... OMIM:614022
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity
Aortic valve stenosis, Bicuspid aortic valve OMIM:615599
Von Willebrand Disease, Type 1
Persistent bleeding after trauma, Bruising susceptibility, Gastrointestinal hemorrhage, Menorrhag... OMIM:193400
Coenzyme Q10 Deficiency, Primary, 2
Pulmonary arterial hypertension, Mitral regurgitation, Aortic regurgitation OMIM:614651
Cocaine Intoxication
Hypovolemia, Rhabdomyolysis, Diffuse alveolar hemorrhage, Hypotension, Myocardial infarction, Aor... ORPHA:90068
Hypoplastic Left Heart Syndrome
Patent ductus arteriosus, Atrial septal defect, Hypoplastic left heart, Mitral stenosis, Mitral a... ORPHA:2248
Sick Sinus Syndrome 2
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, Aortic regurgitation, Left ventricul... OMIM:163800
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Nonproductive cough, Pneumonia, Airway obstruction, Hypoxemia, Reduced FEV1/FVC ratio, Reduced fo... ORPHA:1303
Aneurysm-Osteoarthritis Syndrome
Bruising susceptibility, Abdominal aortic aneurysm, Aortic regurgitation, Patent ductus arteriosu... ORPHA:284984
Fanconi Anemia, Complementation Group G
Myelodysplasia, Abnormality of chromosome stability, Leukemia OMIM:614082
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Interstitial cardiac fibrosis, Left ventricular noncompaction, Reduced ej... OMIM:613426
Immunodeficiency 48
Panhypogammaglobulinemia, Pneumonia, Eczematoid dermatitis OMIM:269840
Megabladder, Congenital
Patent ductus arteriosus, Atrial septal defect, Left ventricular noncompaction cardiomyopathy, Ve... OMIM:618719
Hypocomplementemic Urticarial Vasculitis
Emphysema, Restrictive ventilatory defect, Uveitis, Airway obstruction, Arthritis, Inflammatory a... ORPHA:36412
Common Variable Immunodeficiency
Emphysema, Restrictive ventilatory defect, Pneumonia, Decreased circulating antibody level, Bronc... ORPHA:1572
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613874
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Mitral regurgitation, Bruising susceptibility, Mitral valve prolapse, Aortic regurgitation OMIM:225320
Mucolipidosis Iii Gamma
Aortic valve stenosis, Aortic regurgitation OMIM:252605
Colorectal Cancer, Susceptibility To, 10
Colorectal polyposis, Endometrial carcinoma, Carcinoma OMIM:612591
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Hepatomegaly, Ventricular hypertrophy, Bradycardia, Left ventricular hy... OMIM:619048
Porokeratosis 1, Multiple Types
Abnormality of chromosome stability, Neoplasm of the skin OMIM:175800
Congenital Alveolar Capillary Dysplasia
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Pulmonary arterial hypertens... ORPHA:210122
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Sinus tachycardia, Left bundle branch block, Pedal edema, ... ORPHA:563
Loeys-Dietz Syndrome
Bruising susceptibility, Cardiac arrest, Patent ductus arteriosus, Aortic dissection, Arterial di... ORPHA:60030
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Atrial septal defect, Subvalvular aortic stenosis, Coarctation of aorta, Ve... OMIM:614114
Meacham Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Conotruncal defect, Atrial septal defect, Situs in... ORPHA:3097
Weill-Marchesani Syndrome
Mitral regurgitation, Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis ORPHA:3449
Tricuspid Atresia
Patent foramen ovale, Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Hypoplasia o... ORPHA:1209
Panbronchiolitis, Diffuse
Hypoxemia, Foam cells, Crackles, Cough, Bronchiectasis, Rhonchi, Wheezing OMIM:604809
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic left... ORPHA:1455
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular septal hypertrophy, Ventricular fibrillation, Ventricular tachycardia, T-wave inversi... OMIM:608758
Loeys-Dietz Syndrome 3
Atrial fibrillation, Ventricular hypertrophy, Mitral regurgitation, Left ventricular hypertrophy,... OMIM:613795
Muir-Torre Syndrome
Benign genitourinary tract neoplasm, Adenoma sebaceum, Carcinoma, Colon cancer, Breast carcinoma,... OMIM:158320
Weill-Marchesani Syndrome 3
Aortic valve stenosis, Pulmonic stenosis OMIM:614819
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Pneumonia, Recurrent bronchitis, Otitis media OMIM:312863
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Recurrent bronchopulmonary... OMIM:242700
Lymphoid Interstitial Pneumonia
Cor pulmonale, Aortic valve stenosis OMIM:247610
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Transaldolase Deficiency
Hepatosplenomegaly, Atrial septal defect, Hydrops fetalis, Biventricular hypertrophy, Coarctation... ORPHA:101028
Nut Midline Carcinoma
Ewing sarcoma, Squamous cell carcinoma, Leukemia, Neuroblastoma, Neoplasm, Oropharyngeal squamous... ORPHA:443167
Cutis Laxa, Autosomal Dominant 1
Emphysema OMIM:123700
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Cardiomyopathy, Palpitations, Left ventricular hypertrophy, Myocardial f... OMIM:613873
Atrial Septal Defect 4
Coarctation of aorta OMIM:611363
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Abnormal tricuspid valve morphology, Congestive heart failure, Atria... ORPHA:90308
Noonan Syndrome 10
Patent ductus arteriosus, Atrial septal defect, Hypertrophic cardiomyopathy, Pleural effusion, Pu... OMIM:616564
Hereditary Pulmonary Alveolar Proteinosis
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Foam cells, H... ORPHA:264675
Multisystemic Smooth Muscle Dysfunction Syndrome
Thoracic aortic aneurysm, Patent ductus arteriosus, Pulmonary arterial hypertension, Dilatation o... OMIM:613834
Marfan Syndrome
Flexion contracture, Aortic regurgitation, Congestive heart failure, Mitral annular calcification... OMIM:154700
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Patent ductus arteriosus, Coarctation of aorta, Bicuspid aortic valve, Transp... OMIM:612474
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Double outlet right ventricle, Pulmonic stenosis, Coarctation of aorta,... OMIM:618164
Emanuel Syndrome
Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Congenital diaphragmatic herni... OMIM:609029
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Abnormal atrioventricular valve morphology, Congestive heart failure, Contracture... ORPHA:324410
Ciliary Dyskinesia, Primary, 44
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Bronchiectasis, Re... OMIM:618781
Temtamy Syndrome
Aortic aneurysm ORPHA:1777
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching, Dextrocardia, Atrioventr... OMIM:606217
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:70578
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613876
Monosomy 18Q
Pulmonary valve defects, Patent ductus arteriosus, Congestive heart failure, Left-to-right shunt,... ORPHA:1600
Meckel Syndrome, Type 7
Portal hypertension, Hepatosplenomegaly, Patent ductus arteriosus, Atrial septal defect, Situs in... OMIM:267010
Hereditary Arterial And Articular Multiple Calcification Syndrome
Abnormal vascular morphology, Arterial calcification, Abnormal cardiovascular system physiology, ... ORPHA:289601
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching OMIM:107500
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Bicuspid aortic valve, Patent ductus arteriosus OMIM:243310
Idiopathic Achalasia
Wheezing, Recurrent aspiration pneumonia, Cough, Bronchitis ORPHA:930
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Aortic valve calcification, Aortic valve stenosis, Aortic regurgitation OMIM:114065
Cardiomyopathy, Familial Hypertrophic, 1
Subvalvular aortic stenosis, Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Familial Cervical Artery Dissection
Carotid artery dissection, Transient ischemic attack, Dilatation of the cerebral artery, Hyperten... ORPHA:36382
Ciliary Dyskinesia, Primary, 9
Recurrent otitis media, Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Cough, Bronchi... OMIM:612444
Osteopathia Striata-Cranial Sclerosis Syndrome
Facial palsy, Aortic valve stenosis, Coarctation of aorta ORPHA:2780
Familial Atrial Myxoma
Cardiac myxoma, Congestive heart failure, Ascites, Bacterial endocarditis, Dilatation of the cere... ORPHA:615
Congenital Gerbode Defect
Right atrial enlargement, Left-to-right shunt, Pedal edema, Ventricular septal defect, Holosystol... ORPHA:99095
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Patent ductus arteriosus, Atrial septal defect, Pulmonary arterial hypertension, Hypertension, Bi... OMIM:613355
Hypermethioninemia Due To Adenosine Kinase Deficiency
Atrial septal defect, Coarctation of aorta, Pulmonic stenosis, Skeletal muscle atrophy OMIM:614300
Myofibrillar Myopathy 10
EMG: myopathic abnormalities, Ankle flexion contracture, Knee flexion contracture, Increased QRS ... OMIM:619040
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Aortic root aneurysm, Atrial septal defect, Ventricular septal defect, Mitral regurgitation, Camp... OMIM:301039
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia, Left ventricular hypertrophy OMIM:614654
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Patent ductus arteriosus, Thoracic aortic aneurysm, Atrial septal defect, Dextrotransposition of ... OMIM:619657
Congenital Fibrinogen Deficiency
Abnormal umbilical stump bleeding, Bruising susceptibility, Left ventricular hypertrophy, Subcuta... ORPHA:335
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Foot dorsiflexor weakness, Patent foramen ovale, Atrial septal defect, Double o... ORPHA:477817
Pfeiffer-Palm-Teller Syndrome
Aortic valve stenosis OMIM:261560
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Increased pulmonary vascular resistance, Pulmonary artery vasocon... OMIM:178600
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Atrial flutter, Patent ductus arteriosus, Atrial septal defect, Hydrops fetalis... OMIM:601927
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Hepatomegaly, Myopathy, Cardiomyopathy, Cardiomegaly, Oligohydramnios OMIM:617713
3C Syndrome
Tetralogy of Fallot, Abnormal tricuspid valve morphology, Atrial septal defect, Abnormal mitral v... ORPHA:7
Coenzyme Q10 Deficiency, Primary, 8
Oligohydramnios, Flexion contracture, Left ventricular hypertrophy, Hypertension OMIM:616733
Mounier-Kühn Syndrome
Recurrent bronchopulmonary infections, Pneumonia, Recurrent respiratory infections, Bronchitis ORPHA:3347
Mucopolysaccharidosis, Type Ivb
Intimal thickening in the coronary arteries, Aortic valve stenosis, Hepatomegaly OMIM:253010
Ciliary Dyskinesia, Primary, 42
Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Reduced forced vital capacity, Bronchi... OMIM:618695
Immunodeficiency 32B
Recurrent respiratory infections, Sinusitis, Pneumonia, Bronchiectasis OMIM:226990
Chromosome 18Q Deletion Syndrome
Patent ductus arteriosus, Congestive heart failure, Dysplastic aortic valve, Atrial septal defect... OMIM:601808
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Left ventricular systolic dysfunction, Flexion contracture, Congenital muscular dystrophy, Muscul... OMIM:613156
Fanconi Renotubular Syndrome 5
Emphysema, Lung adenocarcinoma, Pulmonary fibrosis, Decreased DLCO OMIM:618913
Mcdonough Syndrome
Diastasis recti, Atrial septal defect, Pulmonic stenosis, Ventricular septal defect, Aortic valve... OMIM:248950
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Recurrent otitis media, Decreased nasal nitric oxide, Ciliary dyskinesia, At... OMIM:615294
Immunodeficiency 11B With Atopic Dermatitis
Asthma, Atopic dermatitis, Pneumonia OMIM:617638
Cirrhotic Cardiomyopathy
Right atrial enlargement, Left ventricular diastolic dysfunction, Elevated jugular venous pressur... ORPHA:57777
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Limb-girdle muscle weakness, Generalized amyotrophy, Increased variability in muscle fiber diamet... ORPHA:86812
Encephalocraniocutaneous Lipomatosis
Coarctation of aorta, Tricuspid valve prolapse, Pulmonary arterial hypertension, Abnormal aortic ... ORPHA:2396
Loeys-Dietz Syndrome 5
Bruising susceptibility, Scapular winging, Patent foramen ovale, Aortic root aneurysm, Atrial sep... OMIM:615582
Congenital Contractural Arachnodactyly
Flexion contracture, Aortic aneurysm, Arthrogryposis multiplex congenita, Camptodactyly of finger... ORPHA:115
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Recurrent otit... OMIM:615451
Young Syndrome
Recurrent sinopulmonary infections, Congenital pulmonary airway malformation, Bronchiectasis, Rec... OMIM:279000
D-2-Hydroxyglutaric Aciduria 1
Cardiomyopathy, Aortic regurgitation OMIM:600721
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Atrial septal defect, Knee flexion contracture, Vascular ring, Ventricul... OMIM:603387
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Edema of the dorsum of feet, P... ORPHA:275766
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Genitopalatocardiac Syndrome
Right aortic arch, Ventricular septal defect, Double outlet right ventricle, Transposition of the... OMIM:231060
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Chronic bronchitis, Bronchiectasis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Chronic bronchitis, Bronchiectasis OMIM:613021
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Chronic bronchitis, Bronchiectasis OMIM:211400
Generalized Arterial Calcification Of Infancy
Left ventricular systolic dysfunction, Hypertension, Ascites, Weak pulse, Ventricular hypertrophy... ORPHA:51608
Phace Association
Patent ductus arteriosus, Coarctation of aorta, Aortic aneurysm, Anomalous branches of internal c... OMIM:606519
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Subcutaneous hemorrhage, Aortic regurgitation OMIM:603585
9Q31.1Q31.3 Microdeletion Syndrome
Dilated cardiomyopathy, Renovascular hypertension, Aortic regurgitation, Bicuspid aortic valve ORPHA:401923
Cardiomyopathy, Familial Hypertrophic, 16
Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypertrophy, Atrial fibrilla... OMIM:613838
Weill-Marchesani Syndrome 2
Patent ductus arteriosus, Congestive heart failure, Pulmonic stenosis, Flexion contracture of toe... OMIM:608328
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Decreased circulating antibody level, Chronic bronchitis OMIM:614069
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Chronic pulmonary obstruction, Chr... OMIM:253240
Loeys-Dietz Syndrome 6
Abdominal aortic aneurysm, Thoracic aortic aneurysm, Carotid artery dissection, Dilatation of the... OMIM:619656
Loeys-Dietz Syndrome 2
Patent ductus arteriosus, Aortic root aneurysm, Descending aortic dissection, Bicuspid aortic val... OMIM:610168
Marfan Syndrome
Congestive heart failure, Descending aortic dissection, Skeletal muscle atrophy, Ascending tubula... ORPHA:558
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Rhabdomyosarcoma, Atrial septal defect, Subvalvular aortic stenosis, Muscul... ORPHA:1052
Contractural Arachnodactyly, Congenital
Distal arthrogryposis, Elbow flexion contracture, Patent ductus arteriosus, Aortic root aneurysm,... OMIM:121050
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Recurrent upper respiratory tract infections, Pneumonia, Atopic dermatitis OMIM:618806
Fragile X Syndrome
Ascending tubular aorta aneurysm, Mitral valve prolapse ORPHA:908
Gaucher Disease, Type I
Splenomegaly, Hepatomegaly, Pulmonary arterial hypertension, Hypertension, Mitral regurgitation, ... OMIM:230800
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Patent ductus arteriosus, Atrial septal defect, Abnormal aortic valve morphology, Coarctation of ... ORPHA:1120
Mucopolysaccharidosis, Type X
Left ventricular hypertrophy, Aortic valve stenosis, Aortic regurgitation, Thickened aortic valve... OMIM:619698
Hypercalcemia, Infantile, 1
Dehydration, Aortic valve stenosis, Pulmonic stenosis OMIM:143880
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Recurrent otitis media, Chronic rhinitis, Cough, Recurrent bronchitis, Bronc... OMIM:616726
Hypophosphatasia
Emphysema, Respiratory insufficiency ORPHA:436
Fanconi Anemia, Complementation Group N
Chromosomal breakage induced by crosslinking agents, Nephroblastoma, Neuroblastoma, Medulloblastoma OMIM:610832
Netherton Syndrome
Emphysema, Asthma, Decreased circulating antibody level, Eczema, Recurrent respiratory infections... ORPHA:634
Scimitar Syndrome
Tricuspid atresia, Pulmonary artery hypoplasia, Left-to-right shunt, Dextrocardia, Double outlet ... ORPHA:185
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Aortic regurgitation ORPHA:2181
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Achilles tendon contracture, Skeletal muscle atrophy, Ragged-red muscle fibers, Hypertrophic card... OMIM:615418
Immunodeficiency 54
Lymphoproliferative disorder, Chromosome breakage OMIM:609981
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615504
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Atrial septal defect, Coarctation of aorta, Ventricular septal defect, Trans... ORPHA:261243
Absence Of The Pulmonary Artery
Atrial fibrillation, Pedal edema, Cardiomegaly, Abnormal hemidiaphragm morphology, Pulmonary edem... ORPHA:980
Immunodeficiency 104
Eczema, Pneumonia, Otitis media OMIM:608971
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Patent ductus arteriosus, Atrial septal defect, First degree atri... ORPHA:392
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary arterial hypertension, Abnormally loud pulmonic component of the second heart sound, El... OMIM:265450
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Squamous cell carcinoma OMIM:618267
Cheilitis Glandularis
Squamous cell carcinoma, Carcinoma OMIM:118330
Interstitial Lung Disease 1
Elevated bronchoalveolar lavage fluid neutrophil proportion, Nonspecific interstitial pneumonia, ... OMIM:619611
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Scleroderma, Familial Progressive
Abnormality of chromosome stability, Chromosome breakage OMIM:181750
Autosomal Recessive Cutis Laxa Type 1
Emphysema, Recurrent pneumonia, Pyelonephritis, Dilatation of the ventricular cavity, Peripheral ... ORPHA:90349
Mend Syndrome
Aortic valve stenosis OMIM:300960
Noonan Syndrome 9
Coarctation of aorta, Prolonged prothrombin time, Ventricular septal defect, Pulmonic stenosis OMIM:616559
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Upper airway obstruction, Respiratory distress, Dyspnea ORPHA:141152
Ciliary Dyskinesia, Primary, 37
Chronic rhinitis, Rhinorrhea, Bronchiectasis, Right aortic arch, Wheezing OMIM:617577
Adams-Oliver Syndrome 1
Tetralogy of Fallot, Atrial septal defect, Pulmonic stenosis, Pulmonary arterial hypertension, Hy... OMIM:100300
Rin2 Syndrome
Upper eyelid edema, Aortic aneurysm, Bruising susceptibility ORPHA:217335
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Glomerulonephritis, Pneumonia OMIM:247800
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Acute pan... ORPHA:178320
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary insufficiency, Generalized arterial tortuosity, Pulmonary artery aneurysm, Pulmonary ar... OMIM:614437
Emanuel Syndrome
Multiple joint contractures, Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, C... ORPHA:96170
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Congenital diaphragmatic hernia, Abnormality of the pulmonary artery, Ventri... ORPHA:1166
Tatton-Brown-Rahman Syndrome
Patent ductus arteriosus, Aortic root aneurysm, Atrial septal defect, Mitral regurgitation, Supra... ORPHA:404443
Loeys-Dietz Syndrome 1
Patent ductus arteriosus, Aortic root aneurysm, Atrial septal defect, Pulmonary artery aneurysm, ... OMIM:609192
Hurler-Scheie Syndrome
Aortic regurgitation, Contracture of the distal interphalangeal joint of the fingers, Thenar musc... OMIM:607015
Cantu Syndrome
Congenital hypertrophy of left ventricle, Patent ductus arteriosus, Lymphedema, Bicuspid aortic v... OMIM:239850
Ciliary Dyskinesia, Primary, 46
Recurrent pneumonia, Recurrent otitis media, Reduced forced expiratory volume in one second, Redu... OMIM:619436
Trisomy 17P
Flexion contracture, Patent ductus arteriosus, Skeletal muscle atrophy, Macroglossia, Hypoplastic... ORPHA:261290
Enthesitis-Related Juvenile Idiopathic Arthritis
Aortic regurgitation, Thickened Achilles tendon, Dilatation of the ventricular cavity, Abnormal h... ORPHA:85438
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Honeycomb lung, Crackles, Cough, Bronchiectasis, Exertional ... ORPHA:2032
Li-Fraumeni Syndrome
Prostate neoplasm, Adrenocortical carcinoma, Colon cancer, Breast carcinoma, Osteosarcoma, Lung a... OMIM:151623
Cholesterol Pneumonia
Tachypnea, Pneumonia, Cough OMIM:215030
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, Mi... OMIM:619167
Storm Syndrome
Myxomatous mitral valve degeneration, Mitral valve prolapse, Mitral stenosis, Early progressive c... OMIM:185069
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Flexion contracture, Aortic valve stenosis, Pulmonic stenosis, Skeletal muscle atrophy ORPHA:75496
Glycogen Storage Disease Due To Acid Maltase Deficiency
Shortened PR interval, Flexion contracture, Thoracic aortic aneurysm, Facial hypotonia, Lower lim... ORPHA:365
Antisynthetase Syndrome
Myositis, Aortic regurgitation, Myocarditis, Telangiectasia of the skin, Pulmonary arterial hyper... ORPHA:81
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Hydrops fetalis, Polyhydramnios, Ventricular septal defect, ... ORPHA:3405
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Dextrocardia, Double outlet right ventricle, Hypoplastic left hear... OMIM:619702
Hunter-Macdonald Syndrome
Aortic regurgitation, Patent ductus arteriosus, Hypertension, Bicuspid aortic valve, Mitral regur... OMIM:611962
Structural Heart Defects And Renal Anomalies Syndrome
Tetralogy of Fallot, Systolic heart murmur, Tricuspid atresia, Atrial septal defect, Partial anom... OMIM:617478
Weill-Marchesani Syndrome 1
Patent ductus arteriosus, Pulmonic stenosis, Ventricular septal defect, Mitral regurgitation, Aor... OMIM:277600
Fanconi Anemia, Complementation Group S
Breast carcinoma, Chromosome breakage, Ovarian neoplasm OMIM:617883
Congenital Analbuminemia
Low pulse pressure, Pedal edema, Edema, Oligohydramnios, Facial edema ORPHA:86816
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Atrial septal defect, Aortic aneurysm, Ventricular septal defect, Truncus a... ORPHA:261330
Double Outlet Right Ventricle
Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Coarctation of aorta, Hypo... ORPHA:3426
Bloom Syndrome
Squamous cell carcinoma, Leukemia, Lymphoma, Chromosome breakage, Abnormality of chromosome stabi... OMIM:210900
Seckel Syndrome 10
Ventricular hypertrophy, Hypertension, Abdominal aortic aneurysm, Congestive heart failure OMIM:617253
Reversible Cerebral Vasoconstriction Syndrome
Cerebral edema, Vasospasm, Cerebral hemorrhage, Carotid artery dissection, Transient ischemic att... ORPHA:284388
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Intracranial hemorrhage, Lymphedema, Aortic aneurysm, Myopathy, Arteriov... ORPHA:109
Neonatal Marfan Syndrome
Flexion contracture, Aortic root aneurysm, Abnormal echocardiogram, Ascending tubular aorta aneur... ORPHA:284979
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced ejection fraction, Hyp... ORPHA:444013
Alkaptonuria
Thickened Achilles tendon, Mitral valve calcification, Aortic aneurysm, Aortic valve calcificatio... OMIM:203500
Syndromic Diarrhea
Tetralogy of Fallot, Aortic regurgitation, Patent ductus arteriosus, Atrial septal defect, Spleno... ORPHA:84064
Isolated Succinate-Coq Reductase Deficiency
Skeletal myopathy, Abnormal left ventricular function, Skeletal muscle atrophy, Abnormal atrioven... ORPHA:3208
Pericardial And Diaphragmatic Defect
Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Congenital diaphragmatic her... ORPHA:2847
Weiss-Kruszka Syndrome
Dextrotransposition of the great arteries, Left ventricular hypertrophy, Ventricular septal defec... OMIM:618619
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Decreased nasal nitric oxide, Ciliary dyskinesia, Bronchiectasis, Recurre... OMIM:608644
Behçet Disease
Abnormal myocardium morphology, Myositis, Gastrointestinal hemorrhage, Aortic regurgitation, Pulm... ORPHA:117
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Sudden cardiac death, Dilatation of the ventricular cavity, Ventricular arrhythmia, Syncope, Palp... OMIM:609040
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Pneumonia,... OMIM:607594
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Thoracic aortic aneurysm, Patent ductus arteriosus, Bidirectional shunt, Elevated pulmonary arter... OMIM:619351
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Arrhythmia, Atrial septal defect, Ventricular septal defect, Arthrogryposis... ORPHA:254346
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615505
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Recurrent respiratory infections, ... OMIM:615872
Ehlers-Danlos Syndrome, Vascular Type
Bruising susceptibility, Recurrent intrapulmonary hemorrhage, Ascending aortic dissection, Diffus... OMIM:130050
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation OMIM:616603
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Patent ductus arteriosus, Pulmonic stenosis, Coarctation of aorta, Abnormal heart morphology, Bic... ORPHA:284169
Osteogenesis Imperfecta, Type I
Aortic aneurysm, Bruising susceptibility, Mitral valve prolapse OMIM:166200
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Right ventricular dilatation, Atrial flutter, Systolic heart murmur... ORPHA:99105
Fabry Disease
Arrhythmia, Congestive heart failure, Myocardial infarction, Transient ischemic attack, Lymphedem... OMIM:301500
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Vasculitis in the skin, Abnormal circulating interleukin concentration, Pneumonia, Lymphadenitis,... ORPHA:319552
Moyamoya Disease With Early-Onset Achalasia
Moyamoya phenomenon, Raynaud phenomenon, Hypertension ORPHA:401945
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Mitral atresia, Aortic regurgitation, Pulmonary artery stenosis, Abnormal cardiac septum morphology ORPHA:140952
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Congestive heart failure, Dilatation of the ventricular cavity, Peripheral ... ORPHA:90348
Noonan Syndrome 12
Polyhydramnios, Tetralogy of Fallot, Supravalvular aortic stenosis, Ventricular septal defect OMIM:618624
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Subvalvular aortic stenosis, Coarctation of aorta OMIM:217085
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Purulent rhinitis, Pneumonia, Conjunctivitis, Panhypogammaglobulinemia, Otitis media, Arthritis OMIM:601457
Nocardiosis
Scleritis, Productive cough, Keratitis, Conjunctivitis, Emphysema, Infectious encephalitis, Osteo... ORPHA:31204
Cogan Syndrome
Vasculitis, Aortic regurgitation, Large vessel vasculitis ORPHA:1467
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Atrial fibrillation, Cardiomegaly, Holosystolic murmur, Arrhythmia, Com... ORPHA:1677
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Tachypnea, Spontaneous pneumothorax, Recurrent pneumonia, Interstitial pneumonitis, Co... OMIM:610913
Fanconi Anemia, Complementation Group J
Chromosomal breakage induced by crosslinking agents OMIM:609054
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Hypertension, Left ventricular hypertrophy, Intracranial hemorrhage, Epist... ORPHA:251274
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Cutis Laxa, Autosomal Recessive, Type Ic
Emphysema, Tracheomalacia, Pulmonary artery stenosis, Vascular dilatation, Pulmonary hypoplasia OMIM:613177
Pulmonary Alveolar Proteinosis, Acquired
Restrictive ventilatory defect, Pneumonia, Hypoxemia, Lung abscess, Intraalveolar phospholipid ac... OMIM:610910
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Tetralogy of Fallot, Aortic regurgitation, Atrioventricular canal defect, Facial palsy, Coarctati... ORPHA:508498
Heterotaxy, Visceral, 4, Autosomal
Complete atrioventricular canal defect, Total anomalous pulmonary venous return, Dextrotransposit... OMIM:613751
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Patent ductus arteriosus, Double outlet right ventricle, Hypoplastic left heart, Bicuspid aortic ... OMIM:618845
Right Atrial Isomerism
Right atrial isomerism, Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomal... OMIM:208530
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Restrictive ventilatory defect, Reduced FEV1/FVC ratio, Recurrent otitis med... OMIM:611884
Ciliary Dyskinesia, Primary, 11
Immotile cilia, Chronic bronchitis, Chronic rhinitis, Decreased nasal nitric oxide, Bronchiectasi... OMIM:612649
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Abnormality of chromosome stability, Chromosome breakage, Leukemia OMIM:208910
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Patent ductus arteriosus, Atrial septal defect, Hepatomegaly, Oligohydramnios, A... OMIM:208540
Microlissencephaly
Pneumonia ORPHA:1083
Cheilitis Glandularis
Squamous cell carcinoma, Neoplasm ORPHA:1221
Tracheobronchopathia Osteochondroplastica
Recurrent pneumonia, Pneumonia, Atelectasis, Recurrent respiratory infections, Productive cough, ... ORPHA:3348
Criss-Cross Heart
Abnormal mitral valve morphology, Tricuspid stenosis, Supravalvular aortic stenosis, Pulmonic ste... ORPHA:1461
Calcification Of Joints And Arteries
Femoral arterial calcification, Iliac arterial calcification, Tibial arterial calcification, Inte... OMIM:211800
Alport Syndrome
Abnormal aortic morphology, Aortic aneurysm, Hypertension, Renal glomerular foam cells ORPHA:63
Noonan Syndrome 14
Bruising susceptibility, Aortic regurgitation, Hypertrophic cardiomyopathy, Pulmonic stenosis, Po... OMIM:619745
Kyphoscoliotic Ehlers-Danlos Syndrome
Bruising susceptibility, Skeletal muscle atrophy, Dextrocardia, Aortic aneurysm, Myopathy, Subdur... ORPHA:536545
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Aortic root aneurysm, Hypertension, Mitral valve prolapse ORPHA:449291
Hutchinson-Gilford Progeria Syndrome
Left ventricular systolic dysfunction, Left ventricular diastolic dysfunction, Aortic valve steno... ORPHA:740
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Aortic root aneurysm, Dilatation of the cerebral artery, Hypertension, Mitral va... ORPHA:730
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Interrupted aortic arch, Coarctation of aorta OMIM:107550
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Chronic otitis media, Abnormal muc... OMIM:619466
Pericardial Effusion, Chronic
Retinal arteriolar tortuosity, Constrictive pericarditis, Pericardial effusion OMIM:260900
Ciliary Dyskinesia, Primary, 32
Immotile cilia, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Neonatal re... OMIM:616481
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Trichohepatoenteric Syndrome 1
Tetralogy of Fallot, Aortic regurgitation, Hepatomegaly, Pulmonic stenosis, Polyhydramnios, Ventr... OMIM:222470
Familial Adenomatous Polyposis 1
Multiple lipomas, Hepatoblastoma, Papillary thyroid carcinoma, Adrenocortical carcinoma, Colon ca... OMIM:175100
Geleophysic Dysplasia 2
Tricuspid stenosis, Hepatomegaly, Mitral valve prolapse, Pulmonary arterial hypertension, Mitral ... OMIM:614185
Ciliary Dyskinesia, Primary, 36, X-Linked
Cough, Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis, Neonatal respirator... OMIM:300991
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Ventricular septal defect, Truncus arteriosus ORPHA:2516
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Recurrent otit... OMIM:615067
Homozygous Familial Hypercholesterolemia
Coronary artery aneurysm, Coronary artery atherosclerosis, Aortic atherosclerotic lesion, Hyperte... ORPHA:391665
Ciliary Dyskinesia, Primary, 41
Recurrent sinusitis, Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis OMIM:618449
Pituitary Adenoma 1, Multiple Types
Cardiomyopathy, Left ventricular hypertrophy, Hypertension OMIM:102200
Periventricular Nodular Heterotopia 1
Bicuspid aortic valve, Patent ductus arteriosus OMIM:300049
Myofibrillar Myopathy 11
Shoulder girdle muscle atrophy, Generalized amyotrophy, Increased variability in muscle fiber dia... OMIM:619178
X Small Rings
Aortic root aneurysm, Mitral stenosis, Ventricular septal defect, Bicuspid aortic valve, Oligohyd... ORPHA:96201
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Patent ductus arteriosus, Ankle flexion contracture, Polyhydramnios, Ventri... ORPHA:464311
Exercise-Induced Malignant Hyperthermia
Abnormal T-wave, Rhabdomyolysis, Sinus tachycardia, Abnormal pulse pressure, Hypotension, Prolong... ORPHA:466650
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Buschke-Ollendorff Syndrome
Flexion contracture, Generalized limb muscle atrophy, Lymphedema, Hypertension, Abnormal aortic m... ORPHA:1306
Osteogenesis Imperfecta
Abnormal endocardium morphology, Bruising susceptibility, Flexion contracture, Aortic regurgitati... ORPHA:666
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Myhre Syndrome
Patent ductus arteriosus, Generalized muscle hypertrophy, Atrial septal defect, Coarctation of ao... OMIM:139210
Scheie Syndrome
Hepatomegaly, Splenomegaly, Aortic regurgitation ORPHA:93474
Cardiac Septal Defects With Coarctation Of The Aorta
Coarctation of aorta OMIM:212090
Boudin-Mortier Syndrome
Mitral valve prolapse, Aortic root aneurysm OMIM:619543
Methimazole Embryofetopathy
Abnormal aortic morphology, Polyhydramnios, Ventricular septal defect, Coarctation of aorta ORPHA:1923
Telangiectasia, Hereditary Benign
Vascular dilatation, Diffuse telangiectasia OMIM:187260
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Atrial septal defect, Coarctation of aorta OMIM:614857
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Mucolipidosis Type Ii
Abnormal atrioventricular valve physiology, Left ventricular hypertrophy, Aortic regurgitation, P... ORPHA:576
Rigid Spine Syndrome
Respiratory insufficiency, Pneumonia, Abnormality on pulmonary function testing ORPHA:97244
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Double outlet r... OMIM:217095
Singleton-Merten Syndrome 1
Congestive heart failure, Subvalvular aortic stenosis, Tendon rupture, Muscle fiber atrophy, Mitr... OMIM:182250
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial fibrillation... OMIM:616201
Mitochondrial Trifunctional Protein Deficiency
Rhabdomyolysis, Skeletal myopathy, Arrhythmia, Congestive heart failure, Lower limb muscle weakne... ORPHA:746
Alg3-Cdg
Coarctation of the descending aortic arch, Cardiomyopathy, Arthrogryposis multiplex congenita, Ma... ORPHA:79321
Ciliary Dyskinesia, Primary, 26
Immotile cilia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary cleara... OMIM:615500
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Retinal hemorrhage, Congestive heart failure, Accelerated atheroscle... OMIM:264800
Vascular Ehlers-Danlos Syndrome
Arteriovenous fistula, Telangiectasia of the skin, Hypertension, Aplasia/Hypoplasia of the abdomi... ORPHA:286
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Atrial septal defect, Mitral stenosis OMIM:617660
Heterotaxy, Visceral, 5, Autosomal
Right atrial isomerism, Total anomalous pulmonary venous return, Patent ductus arteriosus, Double... OMIM:270100
Marfanoid-Progeroid-Lipodystrophy Syndrome
Bruising susceptibility, Scapular winging, Aortic root aneurysm, Hypertension, Oligohydramnios, M... OMIM:616914
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Patent foramen ovale, Biventricular hypertrophy, Pulmonary arterial hypertension, Hypertension, V... OMIM:615474
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Asthma, Recurrent respiratory infections, Recurrent sinusitis, Atopic dermatitis, Chro... ORPHA:217390
Extracranial Carotid Artery Aneurysm
Total anomalous pulmonary venous return, Arteriosclerosis, Arteritis, Upper limb muscle weakness,... ORPHA:494424
Immunodeficiency 23
Vasculitis in the skin, Increased circulating IgG level, Aortic root aneurysm, Asthma, Increased ... OMIM:615816
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Decreased ... OMIM:300400
Heterotaxy, Visceral, 6, Autosomal
Total anomalous pulmonary venous return, Unbalanced atrioventricular canal defect, Dextrocardia, ... OMIM:614779
Caspase 8 Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Pneumonia, Asthma, Decreased ci... OMIM:607271
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps
Retinal hemorrhage, Retinal arteriolar tortuosity, Dilatation of the cerebral artery, Raynaud phe... OMIM:611773
Alpha-Mannosidosis, Adult Form
Hepatosplenomegaly, Aortic regurgitation, Macroglossia ORPHA:309288
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Diastasis recti, Congestive heart failure, Hypertrophic cardiomyopathy, Spl... OMIM:252500
Keutel Syndrome
Emphysema, Sinusitis, Recurrent otitis media, Airway obstruction, Pulmonary artery hypoplasia, Pe... OMIM:245150
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability OMIM:600546
Pneumocystosis
Nonproductive cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Chronic oral ... ORPHA:723
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Diastasis recti, Dysplastic tricuspid valve, Hypoplastic left heart, Ventricular septal defect, A... OMIM:265380
7Q11.23 Microduplication Syndrome
Patent ductus arteriosus, Atrial septal defect, Congenital diaphragmatic hernia, Aortic aneurysm,... ORPHA:96121
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Patent ductus arteriosus, Multiple joint contractures, Ventricular septal d... ORPHA:464306
Sarcoidosis, Susceptibility To, 1
Emphysema, Restrictive ventilatory defect, Uveitis, Hypoxemia, Elevated bronchoalveolar lavage fl... OMIM:181000
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Atrial septal defect, Camptodactyly, Aortic valve stenosis ORPHA:459061
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Recurrent otit... OMIM:608647
Timothy Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Pneumonia, Bronchitis OMIM:601005
20Q13.33 Microdeletion Syndrome
Hematochezia, Facial hypotonia, Atrial septal defect, Abnormal cardiac ventricle morphology, Hypo... ORPHA:261311
Nephrosialidosis
Bone-marrow foam cells, Pericardial effusion, Ascites OMIM:256150
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Abnormal aortic morphology, Hypoplastic left heart, Patent ductus arteriosus ORPHA:2001
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Respiratory failure, Cough, Dyspnea, Aspirati... ORPHA:90117
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Pulmonary artery hy... OMIM:616749
Meacham Syndrome
Dextrocardia, Hypoplastic left heart, Ventricular septal defect, Patent ductus arteriosus, Bicusp... OMIM:608978
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Overriding aorta, Abnormal aortic arch morphology, Arteriovenous malformation ORPHA:1110
Scedosporiosis
Abnormal respiratory system physiology, Sinusitis, Pneumonia, Bronchial breath sound, Respiratory... ORPHA:449280
Turner Syndrome Due To Structural X Chromosome Anomalies
Aortic arch aneurysm, Atrial septal defect, Myocardial infarction, Aortic dissection, Coarctation... ORPHA:99413
Mosaic Monosomy X
Aortic arch aneurysm, Atrial septal defect, Myocardial infarction, Aortic dissection, Coarctation... ORPHA:99228
Monosomy X
Aortic arch aneurysm, Atrial septal defect, Myocardial infarction, Aortic dissection, Coarctation... ORPHA:99226
Turner Syndrome
Aortic arch aneurysm, Atrial septal defect, Myocardial infarction, Aortic dissection, Coarctation... ORPHA:881
Lymphangioleiomyomatosis
Emphysema, Chylothorax, Restrictive ventilatory defect, Pulmonary lymphangiomyomatosis, Cough, Dy... ORPHA:538
Epidermal Nevus Syndrome
Aortic aneurysm, Rhabdomyosarcoma, Weakness of long finger extensor muscles ORPHA:35125
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular septal hypertrophy, Ventricular fibrillation, Cardiac arrest, Ascites, Hypertrophic c... OMIM:115197
Ciliary Dyskinesia, Primary, 15
Recurrent pneumonia, Recurrent otitis media, Chronic bronchitis, Cough, Rhinorrhea, Bronchiectasi... OMIM:613808
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Non-Hodgkin lymphoma, Squamous cell carcinoma, Colon cancer, Breast carcinoma, Neoplasm of the re... ORPHA:454840
Aapoaiv Amyloidosis
Sinus bradycardia, Atrial flutter, Hypertrophic cardiomyopathy, Cardiac amyloidosis, Supravalvula... ORPHA:439232
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent pneumonia, Recurrent otitis media, Increased circulati... OMIM:243700
Hurler Syndrome
Flexion contracture, Aortic regurgitation, Hepatosplenomegaly, Endocardial fibroelastosis, Spleno... OMIM:607014
Grange Syndrome
Coronary artery stenosis, Carotid artery stenosis, Renovascular hypertension, Bicuspid aortic val... OMIM:602531
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Shortened PR interval, Facial hypotonia, Hypertrophic cardiomyopathy, Hepatomegaly, Macroglossia,... ORPHA:308552
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Congenital Tricuspid Valve Dysplasia
Right atrial enlargement, Abnormal tricuspid valve leaflet morphology, Systolic heart murmur, Pat... ORPHA:555874
Right Pulmonary Artery, Anomalous Origin Of, Familial
Anomalous origin of right pulmonary artery from ascending aorta, Coarctation of aorta, Patent duc... OMIM:610338
Biliary, Renal, Neurologic, And Skeletal Syndrome
Cardiac arrest, Left-to-right shunt, Dextrocardia, Ventricular septal defect, Inlet ventricular s... OMIM:619534
Ciliary Dyskinesia, Primary, 25
Immotile cilia, Sinusitis, Bronchiectasis, Ciliary dyskinesia, Recurrent respiratory infections, ... OMIM:615482
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Ascending tubular aorta aneurysm, Flexion contracture, Ventricular septal d... OMIM:309520
8P23.1 Microdeletion Syndrome
Tetralogy of Fallot, Patent ductus arteriosus, Atrioventricular canal defect, Hypertrophic cardio... ORPHA:251071
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Patent ductus arteriosus, Pulmonary arterial hypertension, Lymphedema, Hypertension, Right ventri... OMIM:613623
Intellectual Developmental Disorder, Autosomal Dominant 21
Atrial septal defect, Coarctation of aorta, Patent ductus arteriosus OMIM:615502
Transaldolase Deficiency
Hepatosplenomegaly, Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Splenom... OMIM:606003
Ehlers-Danlos Syndrome, Classic Type, 1
Bruising susceptibility, Mitral valve prolapse, Aortic root aneurysm OMIM:130000
Primary Ciliary Dyskinesia
Recurrent otitis media, Airway obstruction, Chronic rhinitis, Respiratory failure, Chronic sinusi... ORPHA:244
Xeroderma Pigmentosum, Complementation Group F
Defective DNA repair after ultraviolet radiation damage OMIM:278760
Aspergillosis
Sinusitis, Hypersensitivity pneumonitis, Pneumonia, Abnormality on pulmonary function testing, As... ORPHA:1163
Chromosome 13Q33-Q34 Deletion Syndrome
Small thenar eminence, Patent ductus arteriosus, Pulmonic stenosis, Camptodactyly, Left ventricul... OMIM:619148
Phaver Syndrome
Coarctation of aorta, Pulmonary artery atresia, Ventricular septal defect, Hypoplastic aortic arc... ORPHA:2876
Kawasaki Disease
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:2331
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent pneumonia, Recurrent skin infections, Decreased circulating antibody level, Bronchiecta... OMIM:616576
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
Lessel-Kreienkamp Syndrome
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Pulmonic stenosis, Bicuspid... OMIM:619149
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Chronic rhinitis, Dyspnea, Atelectasis, Bronchiecta... ORPHA:922
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Mitral regurgitation, Coarctation of abdominal aorta, Cardiomyopathy, Endocardial fibroelastosis OMIM:226100
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral regurgitation, Cerebral berry aneurysm, Hypertension, Mitral valve prolapse OMIM:173900
15Q11.2 Microdeletion Syndrome
Tetralogy of Fallot, Total anomalous pulmonary venous return, Atrial septal defect, Coarctation o... ORPHA:261183
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Ventricular septal defect, Coarctation of aorta OMIM:600987
Turnpenny-Fry Syndrome
Aortic regurgitation, Patent ductus arteriosus, Facial hypotonia, Atrial septal defect, Tricuspid... OMIM:618371
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Recurrent respiratory infections, Chronic rhinitis, Bronchiectasis OMIM:618801
Aicardi-Goutieres Syndrome 9
Portal hypertension, Hepatosplenomegaly, Hepatomegaly, Lower limb hypertonia, Edema, Increased bl... OMIM:619487
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave, Contractures involving the joints of the feet, Limb hypertonia, Ventricular sept... ORPHA:444072
Zimmermann-Laband Syndrome 1
Aortic arch aneurysm, Patent ductus arteriosus, Aortic root aneurysm, Splenomegaly, Hepatomegaly,... OMIM:135500
Immunodeficiency 14A, Autosomal Dominant
Decreased specific pneumococcal antibody level, Increased circulating IgM level, Bronchiectasis, ... OMIM:615513
Yellow Nail Syndrome
Sinusitis, Hypoplasia of lymphatic vessels, Cough, Bronchiectasis, Dyspnea, Recurrent respiratory... ORPHA:662