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Gene: Aplnr MGI:1346086

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Gene Summary

Name:
apelin receptor
Synonyms:
apelin receptor,  Agtrl1,  APJ,  msr/apj

Order Alleles

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
abnormal kidney morphology Aplnrtm1.1(KOMP)Vlcg HOM Early adult 0.00
preweaning lethality, incomplete penetrance Aplnrtm1.1(KOMP)Vlcg HOM   Early adult 0.00
abnormal eye morphology Aplnrtm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal epididymis morphology Aplnrtm1.1(KOMP)Vlcg HOM Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes
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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brown adipose tissue  Section images heterozygote 50% (1 of 2)
Cecum  Section images heterozygote 100% (2 of 2)
Colon  Section images heterozygote 100% (2 of 2)
Diaphragm  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Gonadal fat pad  Section images heterozygote 100% (2 of 2)
Harderian gland  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 100% (2 of 2)
Jejunum  Section images heterozygote 100% (2 of 2)
Kidney  Section images heterozygote 50% (1 of 2)
Lung  Section images heterozygote 50% (1 of 2)
Mammary gland  Section images heterozygote 50% (1 of 2)
Mesenteric adipose tissue  Section images heterozygote 50% (1 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Parathyroid gland  Section images heterozygote 50% (1 of 2)
Parotid gland  Section images heterozygote 50% (1 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Quadriceps  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Spleen  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 50% (1 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Thyroid gland  Section images heterozygote 100% (2 of 2)
Tongue  Section images heterozygote 50% (1 of 2)
Trachea  Section images heterozygote 50% (1 of 2)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (1 of 2)
Vagina  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Cartilage tissue N/A heterozygote Not available
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Duodenum N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Large intestine N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lymph node N/A heterozygote Not available
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Small intestine N/A heterozygote 100% (2 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood 0.0%
bone marrow 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
chest bone Unavailable
colon 15.71% (22 of 140)
diaphragm 0.0%
duodenum 3.57% (5 of 140)
epididymis 14.29% (21 of 147)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.71% (1 of 140)
heart 0.33% (2 of 598)
hindlimb 0.0%
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
ileum 14.29% (20 of 140)
jejunum 8.57% (12 of 140)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.31% (1 of 323)
midbrain 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
stomach pyloric region 0.0%
striatum 0.5% (3 of 598)
sublingual gland 0.0%
submandibular gland 1.38% (2 of 145)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
tongue 3.57% (5 of 140)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vagina 0.0%
vas deferens 4.56% (18 of 395)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Section

125 Images

View images

Human diseases caused by Aplnr 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 Aplnr by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Pulmonary edema, Edema OMIM:178400
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary arterial hypertension, Elevated jugular venous pressure, Interlobular septal thickening... OMIM:265450
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation, Intestinal bleeding OMIM:600195
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Pulmonary arterial hypertension, Dyspnea, Arterial intimal fibros... OMIM:178600
Lymphedema And Cerebral Arteriovenous Anomaly
Abnormal cerebral vascular morphology, Pulmonary arterial hypertension, Lymphedema OMIM:152900
Idiopathic Pulmonary Arterial Hypertension
Pulmonary arterial hypertension, Dyspnea, Abnormal jugular vein morphology, Syncope, Palpitations... ORPHA:275766
Familial Isolated Restrictive Cardiomyopathy
Interstitial cardiac fibrosis, Recurrent respiratory infections, Stroke, Dyspnea, Mitral regurgit... ORPHA:75249
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Pulmonary arterial hypertension, Dyspnea, Decreased DLCO, Co... OMIM:234810
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Increased nuchal translucency, Edema, Atrial septal defect, Facial ede... OMIM:617300
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Dyspnea, Edema, Atelectasis, Respiratory distress, Pulmonary edema... OMIM:267450
Bronchopulmonary Dysplasia
Dyspnea, Abnormal respiratory system physiology, Atelectasis, Right ventricular failure, Cough, P... ORPHA:70589
Cardiomyopathy, Familial Hypertrophic, 15
Pulmonary arterial hypertension, Cardiomyocyte hypertrophy, Apical hypertrophic cardiomyopathy, L... OMIM:613255
Cardiomyopathy, Familial Hypertrophic, 4
Cardiac arrest, Stroke, Reduced left ventricular ejection fraction, Hepatomegaly, Ventricular hyp... OMIM:115197
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism, Peripheral arterial stenosis OMIM:134400
Congenital Gerbode Defect
Elevated right atrial pressure, Ventricular septal defect, Bacterial endocarditis, Perimembranous... ORPHA:99095
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Ventricular septal defect, Atrial septal defect, Left ventri... ORPHA:860
Pulmonary Hypertension, Primary, 5
Pulmonary arterial hypertension, Syncope, Right ventricular hypertrophy, Angina pectoris, Right v... OMIM:265400
Familial Dilated Cardiomyopathy
Dyspnea, Mitral regurgitation, Left ventricular systolic dysfunction, Reduced left ventricular ej... ORPHA:217607
Left Ventricular Noncompaction 10
Pulmonary arterial hypertension, Left ventricular noncompaction, Syncope, Congestive heart failur... OMIM:615396
Pulmonary Capillary Hemangiomatosis
Pulmonary capillary hemangiomatosis, Dyspnea, Diffuse alveolar hemorrhage, Decreased DLCO, Interl... ORPHA:199241
Total Anomalous Pulmonary Venous Return 1
Total anomalous pulmonary venous return, Recurrent respiratory infections, Pulmonary arterial hyp... OMIM:106700
Absence Of The Pulmonary Artery
Reduced left ventricular ejection fraction, Atrial septal defect, Tetralogy of Fallot, Right aort... ORPHA:980
Heparin-Induced Thrombocytopenia
Myocardial infarction, Stroke, Pulmonary embolism, Cerebral ischemia ORPHA:3325
Coronary Arterial Fistula
Atrial septal defect, Bacterial endocarditis, Abnormal heart morphology, Angina pectoris, Patent ... ORPHA:2041
Cardiomyopathy, Familial Hypertrophic, 27
Cardiac arrest, Left ventricular diastolic dysfunction, Cardiomyocyte hypertrophy, Concentric hyp... OMIM:618052
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Pulmonary arterial hypertension, Abnormal pulmonary interstitial m... ORPHA:217563
Idiopathic/Heritable Pulmonary Arterial Hypertension
Pulmonary arterial hypertension, Dyspnea, Syncope, Palpitations, Elevated jugular venous pressure... ORPHA:422
Truncus Arteriosus
Right aortic arch, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Abnormal... ORPHA:3384
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Hypotension, Atelectasis, Hypoxemia, Respiratory tract infection, Pulmonary edema... ORPHA:70587
Cirrhotic Cardiomyopathy
Left ventricular diastolic dysfunction, Third heart sound, Global systolic dysfunction, Reduced l... ORPHA:57777
Adult Acute Respiratory Distress Syndrome
Vasculitis, Dyspnea, Hypotension, Hypoxemia, Abnormal blood gas level, Pulmonary edema, Pneumonia... ORPHA:70578
Familial Idiopathic Dilatation Of The Right Atrium
Reduced left ventricular ejection fraction, Hepatomegaly, Atrial septal dilatation, Tricuspid reg... ORPHA:1677
Interstitial Lung Disease 2
Alveolar cell carcinoma, Pulmonary arterial hypertension, Dyspnea, Decreased DLCO, Cough, Usual i... OMIM:178500
Renal Glucosuria
Polyphagia, Enuresis nocturna, Glycosuria, Polydipsia, Polyuria OMIM:233100
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Restrictive ventilatory defect, Type 1 muscle fiber predominance, Muscula... OMIM:253700
Atrial Septal Defect, Sinus Venosus Type
Stroke, Paradoxical splitting of the second heart sound, Tricuspid regurgitation, Supraventricula... ORPHA:99105
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Pulmonic stenosis, Chronic pulmonary obstruction, Cough, Hydrops... ORPHA:2414
Scimitar Syndrome
Hypoplastic left heart, Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Lef... ORPHA:185
Aorta Coarctation
Stroke, Pulmonary arterial hypertension, Hypoplastic left heart, Coarctation of the descending ao... ORPHA:1457
Antithrombin Iii Deficiency
Arterial occlusion, Pulmonary embolism OMIM:613118
Acquired Central Diabetes Insipidus
Polydipsia, Pollakisuria, Weight loss ORPHA:95626
Complete Atrioventricular Septal Defect
Intercostal retractions, Pulmonary venous hypertension, Hepatomegaly, Complete atrioventricular c... ORPHA:1329
Glycogen Storage Disease 0, Muscle
Stroke, Left atrial enlargement, Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle g... OMIM:611556
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Gjc2-Related Late-Onset Primary Lymphedema
Edema of the dorsum of hands, Venous insufficiency, Genital edema, Facial edema, Abnormal lymphat... ORPHA:568051
Peripartum Cardiomyopathy
Myocarditis, Reduced left ventricular ejection fraction, Paroxysmal dyspnea, Respiratory failure,... ORPHA:563
Congenital Tricuspid Valve Dysplasia
Tachypnea, Systolic heart murmur, Abnormal tricuspid valve leaflet morphology, Tricuspid valve pr... ORPHA:555874
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Varicose veins, Sinus bradycardia, Patent ductus arteriosus, Pedal ede... OMIM:126320
Cardiomyopathy, Dilated, 2C
Dilated cardiomyopathy, Pulmonary arterial hypertension, Reduced left ventricular ejection fraction OMIM:618189
Wild Type Attr Amyloidosis
Abnormal EKG, Abnormal pulmonary interstitial morphology, Arrhythmia, Hepatomegaly, Myocardial in... ORPHA:330001
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Enlarged kidney, Anasarca, Cardiomyopathy, Hypertrophic cardiomyopathy, Br... OMIM:261740
Pleural Mesothelioma
Dyspnea, Abnormal respiratory system physiology, Cough, Abnormal pleura morphology, Hepatomegaly,... ORPHA:50251
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Angina pectoris, Bradycardia, Atrial fibrillation, Dyspnea, Mitral regurg... ORPHA:66529
Tricuspid Atresia
Pulmonary artery atresia, Hypoplasia of right ventricle, Coarctation of aorta, Ventricular septal... ORPHA:1209
Systemic Capillary Leak Syndrome
Myocarditis, Hypotension, Cough, Arrhythmia, Cardiorespiratory arrest, Pulmonary edema, Rhinorrhe... ORPHA:188
Fixed Subaortic Stenosis
Ventricular septal defect, Bacterial endocarditis, Left ventricular outflow tract obstruction, At... ORPHA:3092
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Pulmonary Hypertension, Primary, 3
Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Dyspnea, Increased pulmonary... OMIM:615343
Classic Multiminicore Myopathy
Intermittent episodes of respiratory insufficiency due to muscle weakness, Absent muscle fiber me... ORPHA:324604
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Hypoplastic left heart, Right aor... ORPHA:99050
Hughes-Stovin Syndrome
Pulmonary arterial hypertension, Dyspnea, Vasculitis, Cough, Pulmonary embolism, Cardiorespirator... ORPHA:228116
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension, First degree atrioventricular block, Elevated pulmonary artery p... OMIM:615344
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Macroglossia, Left ventricular systolic dysfunction, EMG: myopathic abnormalities, Right ventricu... ORPHA:353
Atrial Septal Defect, Coronary Sinus Type
Stroke, Transient ischemic attack, Supraventricular arrhythmia, Bundle branch block, Exertional d... ORPHA:99104
Sarcoidosis, Susceptibility To, 2
Pulmonary arterial hypertension, Dyspnea, Restrictive ventilatory defect, Hypoxemia, Hepatomegaly... OMIM:612387
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Abnormal cerebral vascular morphology, Venous insufficiency, Pulmonary embolism ORPHA:745
Klippel-Trénaunay Syndrome
Peripheral arteriovenous fistula, Venous insufficiency, Edema, Atrial septal defect, Respiratory ... ORPHA:90308
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Ovarian Hyperstimulation Syndrome
Generalized edema, Capillary leak, Pulmonary edema, Hypovolemia, Pleural effusion, Peripheral ede... ORPHA:64739
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Pulmonary arterial hypertension, Dyspnea, Absent bronchoalveolar d... OMIM:265120
Cardiomyopathy, Dilated, 1R
Interstitial cardiac fibrosis, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left vent... OMIM:613424
Atrial Septal Defect, Ostium Secundum Type
Stroke, Abnormal mitral valve morphology, Tricuspid regurgitation, Transient ischemic attack, Sup... ORPHA:99103
Atrial Septal Defect, Ostium Primum Type
Tricuspid regurgitation, Atrial fibrillation, Exertional dyspnea, Pulmonary artery dilatation, Re... ORPHA:99106
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Tetralogy of Fallot, Atrial septal defect, Abnormal heart morphology, ... OMIM:614954
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Heart block, Arrhythmia, Hypoxemia, Capi... ORPHA:542323
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Pulmonary arterial hypertension, Atrial septal defect, Thoracic aort... OMIM:613834
Cardiomyopathy, Dilated, 1S
Interstitial cardiac fibrosis, Pulmonary arterial hypertension, Ventricular tachycardia, Mitral r... OMIM:613426
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Severely reduced left ventricular e... ORPHA:444013
Laubry-Pezzi Syndrome
Dilatation of the sinus of Valsalva, Right ventricular outlet tract obstruction, Abnormal coronar... ORPHA:99094
Pulmonary Arteriovenous Malformation
Pulmonary arterial hypertension, Dyspnea, Pulmonary hemorrhage, Bacterial endocarditis, Cough, Pa... ORPHA:2038
Takayasu Arteritis
Pulmonary arterial hypertension, Vasculitis, Hypertension, Abnormal heart valve morphology, Ascen... ORPHA:3287
Allergic Bronchopulmonary Aspergillosis
Pulmonary arterial hypertension, Respiratory insufficiency, Cough, Bronchiectasis, Emphysema, Asthma ORPHA:1164
Von Willebrand Disease
Venous insufficiency, Abnormal mitral valve morphology ORPHA:903
Renal Hypoplasia
Recurrent urinary tract infections, Hydronephrosis, Proteinuria, Abnormal renal morphology, Vesic... ORPHA:93101
Long Qt Syndrome 13
Cardiac arrest, Prolonged QTc interval, Reduced left ventricular ejection fraction, Torsade de po... OMIM:613485
Mitochondrial Complex I Deficiency, Nuclear Type 35
Neonatal respiratory distress, Pulmonary arterial hypertension, Nonimmune hydrops fetalis, Pulmon... OMIM:619003
Senior-Loken Syndrome 4
Polydipsia, Polyuria, Nephronophthisis, Stage 5 chronic kidney disease OMIM:606996
Atrial Septal Defect 9
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve OMIM:614475
Timothy Syndrome
Bronchitis, Pulmonary arterial hypertension, Ventricular tachycardia, Ventricular septal defect, ... OMIM:601005
Nephronophthisis-Like Nephropathy 2
Stage 5 chronic kidney disease, Renal insufficiency, Periglomerular fibrosis, Polydipsia, Polyuri... OMIM:619468
Cardiomyopathy, Dilated, 2D
Interstitial cardiac fibrosis, Pulmonary arterial hypertension, Mitral regurgitation, Reduced lef... OMIM:619371
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Recurrent respiratory infections, Pulmonary arterial hypertension, Dextro... OMIM:615067
Surfactant Metabolism Dysfunction, Pulmonary, 2
Desquamative interstitial pneumonitis, Hypoxemia, Reduced forced vital capacity, Respiratory fail... OMIM:610913
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Mitral regurgitation... OMIM:604169
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia, Polyuria OMIM:222100
Yellow Nail Syndrome
Recurrent respiratory infections, Pulmonary arterial hypertension, Dyspnea, Pleuritis, Cough, Neo... ORPHA:662
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular hypertrophy, Left ventricular noncompaction, Sudden cardiac death, Left bundle b... OMIM:601493
Mogs-Cdg
Hepatosplenomegaly, Edema, Atrial septal defect, Left ventricular hypertrophy, Polyhydramnios, He... ORPHA:79330
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Abnormal cerebral vascular morphology, Venous insufficiency, Pulmonary embolism ORPHA:743
Congenital Tracheomalacia
Intercostal retractions, Right aortic arch, Ventricular septal defect, Atrial septal defect, Prod... ORPHA:95430
Thoracic Outlet Syndrome
Edema, Varicose veins ORPHA:97330
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Lymphedema, Venous malformation, Varicose veins OMIM:613089
Familial Multiple Nevi Flammei
Venous insufficiency, Edema, Arteriovenous malformation, Arrhythmia, Intracranial hemorrhage, Pul... ORPHA:624
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Pulmonary embolism ORPHA:82
Atrial Fibrillation, Familial, 6
Left atrial enlargement, Left ventricular hypertrophy, Reduced left ventricular ejection fraction... OMIM:612201
Cocaine Intoxication
Prolonged QRS complex, Hyperventilation, Supraventricular arrhythmia, Pneumothorax, Myocardial in... ORPHA:90068
Loeffler Endocarditis
Right bundle branch block, Mitral regurgitation, Left ventricular hypertrophy, Palpitations, Fati... ORPHA:75566
Erythrocytosis, Familial, 2
Stroke, Pulmonary arterial hypertension, Hypotension, Cerebral hemorrhage, Varicose veins OMIM:263400
Atrial Fibrillation, Familial, 10
Stroke, Paroxysmal atrial fibrillation, Left atrial enlargement, Left ventricular hypertrophy, Tr... OMIM:614022
Cardiomyopathy, Dilated, 1U
Left ventricular hypertrophy, Syncope, Severely reduced left ventricular ejection fraction, First... OMIM:613694
Synaptic Congenital Myasthenic Syndromes
Neonatal respiratory distress, Pulmonary arterial hypertension, Myopathy, Respiratory insufficien... ORPHA:98915
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Atr... OMIM:265380
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... OMIM:115210
Cardiomyopathy, Familial Hypertrophic, 25
Left ventricular hypertrophy, Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy OMIM:607487
Craniofaciofrontodigital Syndrome
Stroke, Ventricular septal defect, Atrial septal defect, Persistent fetal circulation, Pulmonary ... ORPHA:363705
Linear Skin Defects With Multiple Congenital Anomalies 2
Pulmonary arterial hypertension, Tetralogy of Fallot, Atrial septal defect, Ventricular hypertrop... OMIM:300887
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Chronic sinusitis, Congenitally corrected transposition of the great arte... OMIM:618300
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Limited Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Mucosal telangiectasiae, Pulmonary fibrosis, Foot joint contract... ORPHA:220402
Ochoa Syndrome
Recurrent urinary tract infections, Hydronephrosis, Urinary incontinence, Renal insufficiency, Po... ORPHA:2704
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Pulmonary artery atresia, Ventricular septal defect, Tetralogy of ... OMIM:108900
Histiocytoid Cardiomyopathy
Right bundle branch block, Ventricular tachycardia, Wolff-Parkinson-White syndrome, Ventricular s... ORPHA:137675
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Pulmonary edema, Orthostatic hypotension due to autonomic dysfunction, Cardiomega... OMIM:105210
Milroy Disease
Varicose veins, Lymphedema, Abnormal venous morphology, Predominantly lower limb lymphedema, Peda... ORPHA:79452
Meconium Aspiration Syndrome
Abnormal heart rate variability, Pulmonary arterial hypertension, Aspiration pneumonia, Atelectas... ORPHA:70588
Nephronophthisis 1
Renal tubular atrophy, Stage 5 chronic kidney disease, Tubular basement membrane disintegration, ... OMIM:256100
Adams-Oliver Syndrome 5
Pulmonary arterial hypertension, Pulmonic stenosis, Right ventricular hypertrophy, Right atrial e... OMIM:616028
Central Diabetes Insipidus
Nocturia, Polydipsia, Weight loss, Failure to thrive ORPHA:178029
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Nonimmune hydrops fetalis, Pulmonary arterial hypertension, Ventricular septal defect, Respirator... OMIM:617021
Thymic Carcinoma
Dyspnea, Edema, Cough, Abnormal vena cava morphology, Palpebral edema ORPHA:99868
Meckel Syndrome, Type 7
Situs inversus totalis, Hepatosplenomegaly, Atrial septal defect, Right ventricular hypertrophy, ... OMIM:267010
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Polyhydramnios, Type 1 muscle fiber predominance, Right ventricular hypertrophy, Apnea, Increased... OMIM:612949
Nephronophthisis 3
Enuresis, Renal tubular atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Renal corti... OMIM:604387
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Hypocitraturia, Nephrocalcinosis, Chronic kidney disease, Ren... OMIM:248250
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Proximal muscle weakness in lower limbs, Reduced left ventricular ejection fraction... ORPHA:268
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Ventricular tachycardia, Dyspnea, Reduced left ventricular ejectio... OMIM:613838
Angioosteohypotrophic Syndrome
Prominent superficial veins, Venous malformation, Edema, Telangiectasia of the skin ORPHA:75508
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Atrial fibrillation, Reduced left ventricular ejection fraction, Hy... OMIM:613876
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiac arrest, Cardiomyocyte hypertrophy, Left ventricular hypertrophy, Left ventricular noncomp... OMIM:612158
Stuve-Wiedemann Syndrome 2
Respiratory distress, Pulmonary arterial hypertension, Camptodactyly, Congestive heart failure OMIM:619751
Atrial Standstill
Mobitz I atrioventricular block, Ventricular tachycardia, Reduced left ventricular ejection fract... ORPHA:1344
Cardiomyopathy, Dilated, 1Kk
Mitral regurgitation, Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Congestive heart... OMIM:615248
Nephronophthisis 4
Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophth... OMIM:606966
Hereditary Central Diabetes Insipidus
Polydipsia, Weight loss ORPHA:30925
Catastrophic Antiphospholipid Syndrome
Myocarditis, Stroke, Pulmonary arterial hypertension, Retinal arterial occlusion, Abnormal jugula... ORPHA:464343
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Left at... OMIM:608751
Pulmonary Hypertension, Primary, 2
Abnormally loud pulmonic component of the second heart sound, Pulmonary arterial hypertension, In... OMIM:615342
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Hypertension, Pulmonary embolism, Abnormal heart valve morphology, Congestive heart f... ORPHA:1345
Combined Oxidative Phosphorylation Deficiency 22
Pulmonary arterial hypertension, Congestive heart failure OMIM:616045
Congenital Fibrinogen Deficiency
Left ventricular hypertrophy, Right ventricular hypertrophy, Tachycardia, Internal hemorrhage ORPHA:335
Antisynthetase Syndrome
Myocarditis, Recurrent respiratory infections, Pulmonary arterial hypertension, Edema, Respirator... ORPHA:81
Hellp Syndrome
Hypotension, Cerebral hemorrhage, Pulmonary edema, Internal hemorrhage, Pleural effusion, General... ORPHA:244242
Keutel Syndrome
Recurrent respiratory infections, Pulmonary arterial hypertension, Ventricular septal defect, Pul... ORPHA:85202
Meige Disease
Edema of the dorsum of hands, Periorbital edema, Facial edema, Laryngeal edema, Varicose veins, L... ORPHA:90186
Ethylene Glycol Poisoning
Tachypnea, Hypotension, Tachycardia, Hypertension, Cerebral edema, Facial palsy, Pulmonary edema,... ORPHA:31826
Hemorrhagic Fever-Renal Syndrome
Dyspnea, Hypotension, Cough, Palpitations, Intracranial hemorrhage, Hypertension, Capillary leak,... ORPHA:340
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Heterotaxy, Visceral, 4, Autosomal
Pulmonary artery atresia, Dextrocardia, Right aortic arch, Ventricular septal defect, Total anoma... OMIM:613751
Varicose Veins
Varicose veins OMIM:192200
Cardiomyopathy, Dilated, 1V
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Syncope, First degree a... OMIM:613697
Telangiectasia, Hereditary Hemorrhagic, Type 1
Lip telangiectasia, Hypoxemia, Venous varicosities of celiac and mesenteric vessels, Nasal mucosa... OMIM:187300
Diethylstilbestrol Syndrome
Cryptorchidism, Micropenis, Abnormality of the uterus, Abnormal testis morphology, Hypoplasia of ... ORPHA:1916
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Dehydration, Atrial septal defect, Ventricular septal defect, Right ventricular hypertrophy, Pate... OMIM:208085
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Pulmonary arterial hypertension, Dyspnea, Atelectasis, Cough, Hepatomegaly, Recurrent lower respi... OMIM:620233
Senior-Loken Syndrome 3
Enuresis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Polydip... OMIM:606995
Cardiomyopathy, Familial Hypertrophic, 14
Ventricular tachycardia, Left ventricular hypertrophy, Left ventricular outflow tract obstruction... OMIM:613251
Ebstein Malformation Of The Tricuspid Valve
Right bundle branch block, Chest pain, Abnormal endocardium morphology, Atrial septal defect, Arr... ORPHA:1880
Sengers Syndrome
Cardiac arrest, Pulmonary arterial hypertension, Myopathy, Respiratory insufficiency, Sudden card... OMIM:212350
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Right ventricular hypertrophy, Patent foramen ovale, Ventricular septal defect OMIM:614261
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Myofiber disarray, Hypertrophic cardiomyopathy, Mitral valve prolap... OMIM:614676
Scorpion Envenomation
Myocarditis, Rhabdomyolysis, Stroke, Edema, Arrhythmia, Hypertension, Prominent U wave, Premature... ORPHA:466677
Congenital Aortic Valve Stenosis
Abnormal T-wave, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Dyspla... ORPHA:3093
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Cardiomegaly, Hepatomegaly OMIM:619064
Cutis Laxa, Autosomal Recessive, Type Ic
Tracheomalacia, Atelectasis, Pulmonary hypoplasia, Periorbital edema, Peripheral pulmonary artery... OMIM:613177
Eisenmenger Syndrome
Stroke, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Bacterial endocardi... ORPHA:97214
Chronic Thromboembolic Pulmonary Hypertension
Pulmonary arterial hypertension, Abnormal T-wave, Reduced FEV1/FVC ratio, Central sleep apnea, Ri... ORPHA:70591
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertrophic c... OMIM:613874
Primary Ciliary Dyskinesia
Situs inversus totalis, Recurrent sinopulmonary infections, Chronic sinusitis, Atrial situs ambig... ORPHA:244
Senior-Loken Syndrome 1
Thickening of the tubular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency,... OMIM:266900
Hereditary Hemorrhagic Telangiectasia
Subarachnoid hemorrhage, Peripheral arteriovenous fistula, Pulmonary arterial hypertension, Abnor... ORPHA:774
Bardet-Biedl Syndrome 9
Polyphagia, Renal insufficiency, Truncal obesity, Polydipsia, Obesity OMIM:615986
Ogden Syndrome
Aspiration, Secundum atrial septal defect, Enlarged kidney, Ventricular septal defect, Atrial sep... OMIM:300855
Congenital Tricuspid Stenosis
Pulmonary arterial hypertension, Hypotension, Bacterial endocarditis, Tricuspid regurgitation, Co... ORPHA:95459
Nephrogenic Diabetes Insipidus
Enuresis nocturna, Hydroureter, Renal insufficiency, Functional abnormality of the bladder, Failu... ORPHA:223
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Hypoplastic left heart, Atrial septal defect, Ventricular septal defect, ... ORPHA:99125
Aortic Arch Interruption
Ventricular septal defect, Left ventricular outflow tract obstruction, Abnormal heart morphology,... ORPHA:2299
Atrial Fibrillation, Familial, 14
ST segment elevation, Hypertension, Paroxysmal atrial fibrillation, Prolonged PR interval OMIM:615378
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Polyuria, Megacystis, Failure to thrive OMIM:125800
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Apparent Mineralocorticoid Excess
Nephrocalcinosis, Renal insufficiency, Failure to thrive, Renal sodium wasting, Polydipsia, Abnor... ORPHA:320
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Polyuria, Megacystis, Failure to thrive OMIM:304800
Kagami-Ogata Syndrome
Diastasis recti, Pulmonary arterial hypertension, Pulmonic stenosis, Atrial septal defect, Ventri... OMIM:608149
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:612336
Japanese Encephalitis
Distal lower limb muscle weakness, Skeletal muscle atrophy, Cerebral edema, Irregular respiration... ORPHA:79139
Gaucher Disease, Type I
Pulmonary arterial hypertension, Dyspnea, Mitral regurgitation, Hypertension, Hepatomegaly, Aorti... OMIM:230800
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Pulmonary arterial hypertension, Ventricular hypertrophy, Tricuspid regurgitation, Hypertrophic c... OMIM:619051
Congenital Heart Defects, Multiple Types, 6
Secundum atrial septal defect, Pulmonary artery atresia, Coarctation of aorta, Pulmonic stenosis,... OMIM:613854
Attrv122I Amyloidosis
Abnormal EKG, Stroke, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, A... ORPHA:85451
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Arthrogryposis multiplex congenita, Right ventricular hypertrophy, Hepatomegaly, Ventricular sept... OMIM:613404
Lymphatic Malformation 6
Nonimmune hydrops fetalis, Generalized edema, Edema, Atrial septal defect, Polyhydramnios, Perior... OMIM:616843
Cardiomyopathy, Familial Hypertrophic, 10
Asymmetric septal hypertrophy, Ventricular tachycardia, Dyspnea, Left ventricular hypertrophy, Pa... OMIM:608758
East Syndrome
Enuresis, Renal magnesium wasting, Abnormal urinary electrolyte concentration, Renal sodium wasti... ORPHA:199343
Coenzyme Q10 Deficiency, Primary, 2
Pulmonary arterial hypertension, Mitral regurgitation, Aortic regurgitation OMIM:614651
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Dyspnea, Left ventricular hypertrophy, Palpitations, Angina pectoris, Hy... OMIM:613873
Atrial Septal Defect 1
Secundum atrial septal defect, Ventricular septal defect, Atrial septal defect, Second degree atr... OMIM:108800
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Hypertension, Tachypnea, Vascular dilatation, Cardiomegaly OMIM:613320
Proteus Syndrome
Splenomegaly, Venous malformation OMIM:176920
Congenital Alveolar Capillary Dysplasia
Pulmonary arterial hypertension, Hypoplastic left heart, Ventricular septal defect, Tetralogy of ... ORPHA:210122
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Cardiomyopathy, Familial Hypertrophic, 11
Cardiac arrest, Left anterior fascicular block, Dyspnea, Ventricular tachycardia, Atrial septal d... OMIM:612098
Telangiectasia, Hereditary Hemorrhagic, Type 4
Subarachnoid hemorrhage, Pulmonary arteriovenous malformation, Lip telangiectasia, Dyspnea, Dilat... OMIM:610655
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Coarctation of aorta, Atrial septal defect, Patent ductus arteri... OMIM:614857
Oligomeganephronia
Proteinuria, Renal tubular atrophy, Small for gestational age, Stage 5 chronic kidney disease, De... ORPHA:2260
Cystinosis
Proteinuria, Renal insufficiency, Nephropathy, Renal tubular dysfunction, Failure to thrive, Poly... ORPHA:213
Familial Thrombocytosis
Pulmonary arterial hypertension, Syncope, Transient ischemic attack, Cerebral ischemia, Splenomeg... ORPHA:71493
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Reduced left ventricular ejection fraction, Pulmonary venous hypertension,... ORPHA:75565
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Pulmonary arterial hypertension, Ventricular septal defect, Intracranial hemorrhage, Hypertension... ORPHA:369929
Braddock Syndrome
Congenital muscular torticollis, Neonatal respiratory distress, Pulmonary arterial hypertension, ... ORPHA:52047
Isolated Right Ventricular Hypoplasia
Systolic heart murmur, Right ventricular failure, Atrial septal defect, Right-to-left shunt, Fati... ORPHA:439
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Pulmonary arterial hypertension, Ventricular septal defect, Left ventricular hypertrophy, Hyperte... OMIM:615474
Cardiac Diverticulum
Abnormality of the diaphragm, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallo... ORPHA:1686
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Skeletal muscle atrophy, Respiratory distress, Bradycardia, Stro... OMIM:619272
Lymphoid Interstitial Pneumonia
Raynaud phenomenon, Dyspnea, Enlarged kidney, Decreased DLCO, Restrictive ventilatory defect, Cou... ORPHA:79128
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Respiratory failure requiring assisted ventilation, Thoracic aortic aneurysm, Pulmonary hypoplasi... OMIM:619351
Lipoyltransferase 1 Deficiency
Bradycardia, Pulmonary arterial hypertension OMIM:616299
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Polyuria, Hypercalciuria OMIM:613677
Hurler-Scheie Syndrome
Recurrent respiratory infections, Pulmonary arterial hypertension, Camptodactyly of finger, Mitra... OMIM:607015
Lymphatic Malformation 13
Nonimmune hydrops fetalis, Pulmonary arterial hypertension, Mitral regurgitation, Atrial septal d... OMIM:620244
Heterotaxy, Visceral, 7, Autosomal
Situs inversus totalis, Pulmonary artery atresia, Dextrocardia, Hypoplasia of right ventricle, Ri... OMIM:616749
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Increased nuchal translucency, Pulmonary arterial hypertension, Proximal muscle weakness in lower... ORPHA:280633
Telangiectasia, Hereditary Hemorrhagic, Type 2
Lip telangiectasia, Facial telangiectasia, Nasal mucosa telangiectasia, Transient ischemic attack... OMIM:600376
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Flexion contracture, Pulmonary arterial hypertension, Abnormal heart morphology, Recurrent upper ... ORPHA:391372
Polycythemia Vera
Stroke, Respiratory insufficiency, Hypertension, Pulmonary embolism, Intermittent claudication, H... ORPHA:729
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Camptodactyly of finger, Pulmonary arterial hypertension, Camptodactyly, Pulm... OMIM:602782
Cardiomyopathy, Dilated, 1D
Reduced left ventricular ejection fraction, Left ventricular hypertrophy, Left ventricular noncom... OMIM:601494
Nephronophthisis 11
Renal tubular atrophy, Stage 5 chronic kidney disease, Tubular basement membrane disintegration, ... OMIM:613550
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Edema, Pulmonary embolism, Hepatomegaly, Recurrent lower respiratory tract infections, Intestinal... OMIM:226300
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pulmonary edema, Congestive heart failure, Pericardial effusion, Dilated ca... ORPHA:73224
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Global glomerulosclerosis, Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate... OMIM:602522
Mixed Connective Tissue Disease
Myocarditis, Pulmonary arterial hypertension, Dyspnea, Pleuritis, Joint swelling, Xerostomia, Hep... ORPHA:809
Loeys-Dietz Syndrome 6
Vertebral artery aneurysm, Thoracic aortic aneurysm, Ventricular hypertrophy, Varicose veins, Car... OMIM:619656
Paget Disease Of Bone 6
Coronary artery atherosclerosis, Left ventricular hypertrophy OMIM:616833
Scleroderma
Myocarditis, Raynaud phenomenon, Pulmonary arterial hypertension, Dyspnea, Pericarditis, Intersti... ORPHA:801
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Aspiration, Pulmonary arterial hypertension, Absent muscle fiber merosin, Reduced l... ORPHA:258
Parkes Weber Syndrome
Subarachnoid hemorrhage, Peripheral arteriovenous fistula, High-output congestive heart failure, ... ORPHA:90307
Adams-Oliver Syndrome
Pulmonary arterial hypertension, Abnormal pulmonary valve morphology, Pulmonary artery atresia, T... ORPHA:974
Hyperparathyroidism, Neonatal Severe
Hypercalciuria, Failure to thrive, Polydipsia, Aminoaciduria, Polyuria, Hyperphosphaturia OMIM:239200
Diffuse Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Dyspnea, Xerostomia, Pulmonary fibrosis, Congestive heart failur... ORPHA:220393
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Mitral regurgitation, Coarctation of aorta, Left ventricular hypertrophy, Mitral atresia, Hyperte... OMIM:220111
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatosplenomegaly, Secundum atrial septal defect, Pulmonary arterial hypertension, Recurrent res... OMIM:612541
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Congestive heart failure, Arteriovenous malformation ORPHA:137608
Diaphragmatic Hernia 4, With Cardiovascular Defects
Neonatal respiratory distress, Pulmonary arterial hypertension, Aplasia of the left hemidiaphragm... OMIM:620025
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Pulmonary arterial hypertension, Atrial septal defect, Ventricular septal defect, Respiratory dis... ORPHA:2519
Kaposi Sarcoma
Venous insufficiency, Abnormal lung morphology, Lymphedema ORPHA:33276
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Restrictive ventilatory defect, Decreased muscle mass, Wrist drop, Muscle fiber atrophy, Aortic a... ORPHA:1900
Congenital Disorder Of Glycosylation, Type It
Rhabdomyolysis, Pulmonary arterial hypertension, Dyspnea, Coarctation of aorta, Ventricular septa... OMIM:614921
Cardiogenic Shock
Cardiac arrest, Abnormal EKG, ST segment elevation, Dyspnea, Mitral regurgitation, Hypotension, E... ORPHA:97292
Diffuse Alveolar Hemorrhage
Dyspnea, Increased DLCO, Restrictive ventilatory defect, Cough, Hypoxemia, Pulmonary venous hyper... ORPHA:90060
Bardet-Biedl Syndrome 17
Stage 5 chronic kidney disease, Micropenis, Renal cyst, Polydipsia, Polyuria, Obesity OMIM:615994
Sick Sinus Syndrome 2
Cardiac arrest, Prolonged QTc interval, Paroxysmal atrial fibrillation, Left ventricular hypertro... OMIM:163800
Proximal Renal Tubular Acidosis
Nephrocalcinosis, Hypernatriuria, Glycosuria, Hyperuricosuria, Bicarbonaturia, Hypercalciuria, Fa... ORPHA:47159
Distal Renal Tubular Acidosis
Hypocitraturia, Nephrocalcinosis, Decreased glomerular filtration rate, Hypermagnesiuria, Renal c... ORPHA:18
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Enuresis, Hypocalciuria, Renal sodium wasting, Salt craving, Renal potassium wasting, Polydipsia,... OMIM:612780
Juvenile Nephropathic Cystinosis
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Chronic kidney disease, Renal... ORPHA:411634
Overlap Myositis
Raynaud phenomenon, Pulmonary arterial hypertension, Perifascicular muscle fiber atrophy, Distal ... ORPHA:206572
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pulmonary arterial hypertension OMIM:619059
Systemic Sclerosis
Myocarditis, Raynaud phenomenon, Pulmonary arterial hypertension, Dyspnea, Interstitial cardiac f... ORPHA:90291
Gitelman Syndrome
Enuresis, Renal magnesium wasting, Hypocalciuria, Salt craving, Failure to thrive, Renal potassiu... OMIM:263800
Viss Syndrome
Ventricular septal defect, Atrial septal defect, Left aortic arch with retroesophageal right subc... OMIM:619472
Lymphedema-Distichiasis Syndrome
Nonimmune hydrops fetalis, Tetralogy of Fallot, Ventricular septal defect, Arrhythmia, Predominan... OMIM:153400
Liver Disease, Severe Congenital
Systolic heart murmur, Left atrial enlargement, Status asthmaticus, Cough, Ventricular septal def... OMIM:619991
Schimke Immuno-Osseous Dysplasia
Stroke, Pulmonary arterial hypertension, Ischemic stroke, Hypertension, Transient ischemic attack... ORPHA:1830
Infantile Nephropathic Cystinosis
Abnormal tubulointerstitial morphology, Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunc... ORPHA:411629
Pulmonary Alveolar Microlithiasis
Subpleural interstitial thickening, Hypoxemia, Hepatomegaly, Respiratory failure, Pneumothorax, O... ORPHA:60025
Gaucher Disease Type 1
Pulmonary arterial hypertension, Hepatomegaly, Abnormal myocardium morphology, Pericardial effusi... ORPHA:77259
Structural Heart Defects And Renal Anomalies Syndrome
Systolic heart murmur, Right aortic arch, Atrial septal defect, Tetralogy of Fallot, Ventricular ... OMIM:617478
Dermatomyositis
Myocarditis, Recurrent respiratory infections, Pulmonary arterial hypertension, Vasculitis, Edema... ORPHA:221
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Dyspnea, Anasarca, Edema, Hypertension, Pulmonary embolism, Facial edema, Respiratory tract infec... ORPHA:567546
Schimke Immunoosseous Dysplasia
Stroke, Pulmonary arterial hypertension, Dyspnea, Arteriosclerosis, Hypertension, Transient ische... OMIM:242900
Meacham Syndrome
Hypoplastic left heart, Enlarged kidney, Atrial septal defect, Tetralogy of Fallot, Ventricular s... OMIM:608978
Marfanoid Habitus With Situs Inversus
Situs inversus totalis, Pulmonic stenosis, Aortic root aneurysm, Aortic regurgitation, Obstructiv... OMIM:609008
Tetrasomy 5P
Recurrent respiratory infections, Pulmonary arterial hypertension, Aplasia/Hypoplasia of the abdo... ORPHA:3309
Brain-Lung-Thyroid Syndrome
Neonatal respiratory distress, Pulmonary arterial hypertension, Recurrent respiratory infections,... ORPHA:209905
Helix Syndrome
Renal insufficiency, Hypocalciuria, Polydipsia, Nephrolithiasis, Polyuria OMIM:617671
Clapo Syndrome
Lymphedema, Venous malformation, Varicose veins ORPHA:168984
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Macroglossia, Pulmonary arterial hypertension, Recurrent respiratory infectio... ORPHA:505248
Poems Syndrome
Pulmonary arterial hypertension, Edema, Restrictive ventilatory defect, Respiratory insufficiency... ORPHA:2905
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Stroke, Lacunar stroke, Vascular granular osmiophilic material deposition, Varicose veins OMIM:125310
Enlarged Parietal Foramina
Abnormal cerebral vein morphology, Venous malformation ORPHA:60015
Nestor-Guillermo Progeria Syndrome
Pulmonary arterial hypertension, Dyspnea, Mitral regurgitation, Prominent superficial veins, Left... OMIM:614008
X-Linked Intellectual Disability, Nascimento Type
Recurrent respiratory infections, Pulmonary arterial hypertension, Tetralogy of Fallot, Ventricul... ORPHA:163956
19P13.3 Microduplication Syndrome
Pulmonary arterial hypertension, Ventricular septal defect ORPHA:447980
Liposarcoma
Varicose veins ORPHA:69078
Heterotaxy, Visceral, 12, Autosomal
Situs inversus totalis, Hypoplastic left heart, Right aortic arch, Ventricular septal defect, Atr... OMIM:619702
Senior-Boichis Syndrome
Thickening of the tubular basement membrane, Stage 5 chronic kidney disease, Chronic kidney disea... ORPHA:84081
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Pulmonary arterial hypertension, Facial paralysis, Respiratory failure OMIM:605711
17Q23.1Q23.2 Microdeletion Syndrome
Pulmonary arterial hypertension, Dyspnea, Atrial septal defect, Congenital contracture, Patent du... ORPHA:261279
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Respiratory insufficiency, Type 2 muscle fiber atrophy, Pulmonary arterial hypertension, Respirat... OMIM:613845
Generalized Arterial Calcification Of Infancy
Stroke, Ventricular hypertrophy, Transient ischemic attack, Pulmonary arterial hypertension, Coro... ORPHA:51608
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, Atrial septal defect, Ventricular septal defect, L... OMIM:300967
Spastic Paraplegia Type 2
Recurrent respiratory infections, Pulmonary embolism ORPHA:99015
Gaucher Disease Type 3
Recurrent respiratory infections, Pulmonary arterial hypertension, Hydrops fetalis, Hepatomegaly,... ORPHA:77261
Cirrhosis, Familial
Pulmonary arterial hypertension, Hypertension, Ascites OMIM:215600
Geleophysic Dysplasia 2
Pulmonary arterial hypertension, Mitral regurgitation, Respiratory insufficiency, Hepatomegaly, A... OMIM:614185
Familial Hyperaldosteronism Type Iii
Polydipsia, Hypercalciuria ORPHA:251274
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Recurrent respiratory infections, Pulmonary arterial hypertension, Atrial septal defect, Polyhydr... OMIM:620186
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Ventricular septal defect, Atrial septal defect, Abnormal left ventricle morphology, Abnormal car... ORPHA:466791
Congenitally Corrected Transposition Of The Great Arteries
Situs inversus totalis, Atrial situs ambiguous, Wolff-Parkinson-White syndrome, Ventricular septa... ORPHA:216694
Cystinosis, Nephropathic
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Glycosuria, Renal Fanconi syn... OMIM:219800
Livedoid Vasculopathy
Venous insufficiency, Ischemic stroke, Hypertension, Varicose veins, Abnormal capillary morpholog... ORPHA:542643
Sarcoidosis, Susceptibility To, 1
Pulmonary arterial hypertension, Dyspnea, Restrictive ventilatory defect, Cough, Hypoxemia, Hepat... OMIM:181000
Familial Cold Urticaria
Polydipsia ORPHA:47045
Basel-Vanagaite-Smirin-Yosef Syndrome
Recurrent pneumonia, Pulmonary arterial hypertension, Atrial septal defect, Ventricular septal de... OMIM:616449
Bartter Syndrome, Type 2, Antenatal
Small for gestational age, Nephrocalcinosis, Hyperchloriduria, Increased urinary potassium, Hyper... OMIM:241200
Primary Unilateral Adrenal Hyperplasia
Increased urinary potassium, Polydipsia ORPHA:231580
Autosomal Dominant Spastic Paraplegia Type 10
Distal lower limb amyotrophy, Leg muscle stiffness, Lower limb muscle weakness, Varicose veins, D... ORPHA:100991
Fg Syndrome Type 1
Pulmonary arterial hypertension, Coarctation of aorta, Atrial septal defect, Progressive flexion ... ORPHA:93932
Aortic Aneurysm, Familial Thoracic 10
Fusiform ascending tubular aorta aneurysm, Mitral regurgitation, Aortic root aneurysm, Left ventr... OMIM:617168
Mucopolysaccharidosis, Type Vi
Macroglossia, Pulmonary arterial hypertension, Mitral regurgitation, Restrictive ventilatory defe... OMIM:253200
Basel-Vanagaite-Smirin-Yosef Syndrome
Pulmonary arterial hypertension, Atrial septal defect, Ventricular septal defect, Left superior v... ORPHA:464738
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Hepatosplenomegaly, Pulmonary arterial hypertension, Medial calcification of large arteries, Rena... ORPHA:391487
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Stroke, Pulmonary arterial hypertension, Dehydration, Subdural hemorrhage, Hydrops fetalis, Pulmo... ORPHA:79282
Simpson-Golabi-Behmel Syndrome, Type 1
Macroglossia, Neonatal respiratory distress, Diastasis recti, Abnormal lung lobation, Pulmonic st... OMIM:312870
Lysosomal Acid Lipase Deficiency
Hepatosplenomegaly, Stroke, Pulmonary arterial hypertension, Dehydration, Hypotension, Bone-marro... ORPHA:275761
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Hyperventilation, Persistent fetal circulation, Pericardial effusion, ... OMIM:618775
Angioosteohypertrophic Syndrome
Peripheral arteriovenous fistula, Venous insufficiency, Tricuspid valve prolapse, Pulmonary embol... ORPHA:2346
Adams-Oliver Syndrome 1
Pulmonary arterial hypertension, Hypoplastic left heart, Pulmonic stenosis, Ventricular septal de... OMIM:100300
Stuve-Wiedemann Syndrome 1
Pulmonary arterial hypertension, Camptodactyly, Respiratory insufficiency, Contracture of the pro... OMIM:601559
Thymic Neuroendocrine Tumor
Cough, Prominent veins on trunk, Abnormal breath sound, Abnormal vena cava morphology ORPHA:97289
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormal cerebral vascular morphology, Abnormal venous morphology, Enlarged kidney, Telangiectasi... ORPHA:276280
Melas
Abnormal mitochondria in muscle tissue, Pulmonary arterial hypertension, Concentric hypertrophic ... ORPHA:550
Crimean-Congo Hemorrhagic Fever
Myocarditis, Hepatomegaly, Bundle branch block, Bradycardia, Epistaxis, Pulmonary arterial hypert... ORPHA:99827
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Pulmonary arterial hypertension, Respiratory distress, Central apnea, Congestive heart failure, R... OMIM:616482
3Q29 Microdeletion Syndrome
Pulmonary arterial hypertension, Subvalvular aortic stenosis, Patent ductus arteriosus ORPHA:65286
Lymphedema-Distichiasis Syndrome
Arrhythmia, Varicose veins, Patent ductus arteriosus, Abnormality of the pulmonary vasculature, P... ORPHA:33001
Trichorhinophalangeal Syndrome, Type Ii
Recurrent respiratory infections, Internal carotid artery dissection, Right ventricular hypertrop... OMIM:150230
Idiopathic Steroid-Resistant Nephrotic Syndrome
Periorbital edema, Pulmonary embolism, Respiratory tract infection, Edema ORPHA:567548
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Torticollis, Varicose veins OMIM:314300
Renal Nutcracker Syndrome
Dilatation of mesenteric artery, Syncope, Renal artery stenosis, Varicose veins, Vulval varicose ... ORPHA:71273
Carey-Fineman-Ziter Syndrome 1
Pulmonary arterial hypertension, Myopathy, Respiratory insufficiency, Weakness of facial musculat... OMIM:254940
Pediatric-Onset Graves Disease
Polyphagia, Polydipsia, Hyperactivity, Failure to thrive ORPHA:525731
Foix-Alajouanine Syndrome
Distal lower limb amyotrophy, Distal lower limb muscle weakness, Lower limb muscle weakness, Arte... ORPHA:79093
Parathyroid Carcinoma
Renal hamartoma, Nephrocalcinosis, Renal cyst, Renal insufficiency, Hypercalciuria, Dysphagia, Ne... ORPHA:143
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Pulmonary arterial hypertension, Camptodactyly, Central sleep apnea, Obstructive sleep apnea, Fle... OMIM:620029
Immunodeficiency 87 And Autoimmunity
Pulmonary arterial hypertension, Anasarca, Atrial septal defect, Atrioventricular canal defect, H... OMIM:619573
Osteogenesis Imperfecta, Type Iii
Pulmonary arterial hypertension OMIM:259420
Developmental Delay With Or Without Dysmorphic Facies And Autism
Pulmonary arterial hypertension, Coarctation of aorta, Ventricular septal defect, Laryngotracheom... OMIM:618454
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hepatosplenomegaly, Pulmonary arterial hypertension, Bacterial endocarditis, Calcification of the... ORPHA:2072
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Pulmonary arterial hypertension, High-output congestive heart failure, Hepato... ORPHA:231222
Encephalocraniocutaneous Lipomatosis
Pulmonary arterial hypertension, Coarctation of aorta, Tricuspid valve prolapse, Interrupted aort... ORPHA:2396
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Glomerulopathy, Renal cell carcinoma, Horseshoe kidney, Renal Fanconi syndro... ORPHA:93111
Marshall-Smith Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia, Ventricular septal defect, Dysplastic aort... OMIM:602535
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Pulmonary arterial hypertension, Atrial septal defect, Acute respiratory distress syndrome, Respi... OMIM:620005
Septo-Optic Dysplasia Spectrum
Obesity, Polydipsia, Hypoplasia of penis ORPHA:3157
Arima Syndrome
Polycystic kidney dysplasia, Renal tubular atrophy, Proteinuria, Stage 5 chronic kidney disease, ... OMIM:243910
Gaucher Disease
Pulmonary arterial hypertension, Hydrops fetalis, Respiratory insufficiency, Hepatomegaly, Abnorm... ORPHA:355
Renal Cysts And Diabetes Syndrome
Proteinuria, Stage 5 chronic kidney disease, Glycosuria, Renal cyst, Atretic vas deferens, Ureter... OMIM:137920
Idiopathic Hypereosinophilic Syndrome
Raynaud phenomenon, Hepatosplenomegaly, Dyspnea, Joint swelling, Angioedema, Cough, Intracranial ... ORPHA:3260
Proteus-Like Syndrome
Bronchogenic cyst, Venous insufficiency, Splenomegaly ORPHA:2969
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Recurrent respiratory infections, Pulmonary arterial hypertension, Hypoxemia, Patent ductus arter... ORPHA:2282
Juvenile Polyposis Syndrome
Pulmonary arteriovenous malformation, Pulmonary arterial hypertension, Hematochezia, Hepatic arte... ORPHA:2929
Hutchinson-Gilford Progeria Syndrome
Stroke, Intracranial hemorrhage, Abnormal mitral valve morphology, Ventricular hypertrophy, Upper... ORPHA:740
Glomuvenous Malformation
Gastrointestinal arteriovenous malformation, Venous malformation, Arteriovenous malformation ORPHA:83454
Hepatocellular Carcinoma
Venous insufficiency, Dyspnea, Hypotension, Anasarca, Hepatomegaly, Pedal edema, Portal hypertens... ORPHA:88673
Familial Hyperaldosteronism Type I
Polydipsia ORPHA:403
Isotretinoin-Like Syndrome
Conotruncal defect, Abnormality of the pulmonary veins, Abnormal cardiac atrium morphology, Abnor... ORPHA:2306
Fontaine Progeroid Syndrome
Pulmonary arterial hypertension, Hypoplasia of the abdominal wall musculature, Left ventricular h... OMIM:612289
Toxic Epidermal Necrolysis
Renal insufficiency, Dysphagia, Abnormality of the urethra, Polydipsia, Dysuria, Weight loss ORPHA:537
Autosomal Recessive Malignant Osteopetrosis
Recurrent respiratory infections, Pulmonary arterial hypertension, Abnormal pulmonary valve morph... ORPHA:667
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Macroglossia, Pulmonary arterial hypertension, Aspiration pneumonia, Tracheomalacia, Aortic root ... ORPHA:444077
Blau Syndrome
Pulmonary arterial hypertension, Dyspnea, Camptodactyly of finger, Joint swelling, Large vessel v... ORPHA:90340
Erdheim-Chester Disease
Hydronephrosis, Renal insufficiency, Polydipsia, Dysuria, Weight loss ORPHA:35687
Hallermann-Streiff Syndrome
Recurrent respiratory infections, Pulmonary arterial hypertension, Tracheomalacia, Hypertension, ... OMIM:234100
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly, Venous malformation OMIM:612918
Hyperparathyroidism-Jaw Tumor Syndrome
Renal hamartoma, Nephrocalcinosis, Renal cyst, Renal insufficiency, Hypercalciuria, Dysphagia, Ne... ORPHA:99880
Degcags Syndrome
Hepatosplenomegaly, Tracheomalacia, Pulmonary arterial hypertension, Dysplastic pulmonary valve, ... OMIM:619488
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Heart murmur, Abnormal vena cava morphology, Ventricular septal defect ORPHA:166035
Schwartz-Jampel Syndrome
Pulmonary arterial hypertension, Myopathy, Respiratory insufficiency, Arrhythmia, Flexion contrac... ORPHA:800
Biliary, Renal, Neurologic, And Skeletal Syndrome
Cardiac arrest, Secundum atrial septal defect, Situs inversus totalis, Right aortic arch, Ventric... OMIM:619534
Gitelman Syndrome
Enuresis, Proteinuria, Tubulointerstitial nephritis, Decreased urinary potassium, Renal Fanconi s... ORPHA:358
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Camptodactyly, Pulmonic stenosis, Varicose veins, Aortic dissection, Vascular dilatation OMIM:618343
15Q Overgrowth Syndrome
Pulmonary arterial hypertension, Mitral regurgitation, Contracture of the proximal interphalangea... ORPHA:314585
Classic Homocystinuria
Arteriovenous malformation, Intracranial hemorrhage, Hypertension, Pulmonary embolism, Hepatomega... ORPHA:394
H Syndrome
Hepatosplenomegaly, Camptodactyly, Enlarged kidney, Facial telangiectasia, Chronic rhinitis, Vari... ORPHA:168569
Behçet Disease
Vasculitis, Pleuritis, Mitral regurgitation, Endocarditis, Pulmonary embolism, Aortic regurgitati... ORPHA:117
Ehlers-Danlos Syndrome, Vascular Type
Repeated pneumothoraces, Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Descending aortic ... OMIM:130050
Incontinentia Pigmenti
Pulmonary arterial hypertension, Camptodactyly of finger, Cerebral ischemia, Congestive heart fai... ORPHA:464
Whipple Disease
Polydipsia, Cachexia ORPHA:3452
Overhydrated Hereditary Stomatocytosis
Pulmonary embolism, Hepatomegaly, Splenomegaly OMIM:185000
Wolfram Syndrome
Recurrent urinary tract infections, Nephropathy, Polydipsia, Dysuria, Abnormality of the urinary ... ORPHA:3463
Loeys-Dietz Syndrome 3
Atrial septal defect, Arterial tortuosity, Ventricular hypertrophy, Tortuous cerebral arteries, P... OMIM:613795
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Macroglossia, Diastasis recti, Pulmonary arterial hypertension, Camptodactyly, Hepatosplenomegaly... ORPHA:96334
Yunis-Varon Syndrome
Increased nuchal translucency, Pulmonary arterial hypertension, Tetralogy of Fallot, Ventricular ... ORPHA:3472
17Q11 Microdeletion Syndrome
Stroke, Pulmonary arterial hypertension, Coarctation of aorta, Pulmonic stenosis, Abnormal intern... ORPHA:97685
Lipodystrophy, Familial Partial, Type 7
Pulmonary arteriovenous malformation, Pulmonary arterial hypertension, Lower limb muscle weakness... OMIM:606721
Ctcf-Related Neurodevelopmental Disorder
Pulmonary arterial hypertension, Mitral regurgitation, Coarctation of aorta, Atrial septal defect... ORPHA:363611
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Pulmonary arterial hypertension, Camptodactyly of finger, Mitral regurgitation, Pulmonic stenosis... OMIM:143095
Panhypophysitis
Polydipsia, Hyposthenuria ORPHA:95513
Menkes Disease
Venous insufficiency, Aplasia/Hypoplasia of the abdominal wall musculature, Intracranial hemorrha... ORPHA:565
Glycogen Storage Disease Ic
Pulmonary arterial hypertension, Hypertension, Hepatomegaly, Spider hemangioma, Recurrent upper r... OMIM:232240
Sturge-Weber Syndrome
Stroke, Pulmonary embolism, Abnormal cerebral vascular morphology, Conjunctival telangiectasia ORPHA:3205
Dehydrated Hereditary Stomatocytosis
Pulmonary venous hypertension, Splenomegaly, Edema ORPHA:3202
48,Xxxy Syndrome
Recurrent respiratory infections, Pulmonary embolism, Asthma ORPHA:96263
49,Xxxxy Syndrome
Recurrent respiratory infections, Pulmonary embolism, Asthma ORPHA:96264
Tetrasomy 9P
Raynaud phenomenon, Pulmonary arterial hypertension, Dextrocardia, Pulmonary hypoplasia, Abnormal... ORPHA:3310
Familial Chylomicronemia Syndrome
Hepatosplenomegaly, Pulmonary embolism, Precocious atherosclerosis ORPHA:444490
Von Hippel-Lindau Syndrome
Multiple renal cysts, Papillary cystadenoma of the epididymis, Epididymal cyst OMIM:193300
Melnick-Needles Syndrome
Mitral valve prolapse, Pulmonary arterial hypertension, Tricuspid valve prolapse, Recurrent respi... OMIM:309350
Neuroleptic Malignant Syndrome
Rhabdomyolysis, Aspiration pneumonia, Dehydration, Hypotension, Arrhythmia, Hypertension, Pulmona... ORPHA:94093
Classical-Like Ehlers-Danlos Syndrome Type 2
Aortic root aneurysm, Prominent veins on trunk, Carotid artery stenosis, Varicose veins, Pericard... ORPHA:536532
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve, Patent duc... OMIM:613355
Osteopetrosis With Renal Tubular Acidosis
Obstructive sleep apnea, Pulmonary arterial hypertension, Hepatomegaly, Oligohydramnios ORPHA:2785
Familial Cerebral Cavernous Malformation
Venous malformation, Cerebral hemorrhage ORPHA:221061
Cog1-Cdg
Hepatosplenomegaly, Pulmonary arterial hypertension, Atrial septal dilatation ORPHA:263508
Rabson-Mendenhall Syndrome
Long penis, Polydipsia, Nephrocalcinosis ORPHA:769
Autosomal Recessive Polycystic Kidney Disease
Recurrent urinary tract infections, Polycystic kidney dysplasia, Acute kidney injury, Stage 5 chr... ORPHA:731
22Q11.2 Deletion Syndrome
Abnormal pulmonary valve morphology, Abnormal lung lobation, Chronic pulmonary obstruction, Tetra... ORPHA:567
Thauvin-Robinet-Faivre Syndrome
Macroglossia, Ventricular septal defect, Varicose veins, Mitral valve prolapse, Pedal edema OMIM:617107
Pituitary Dermoid And Epidermoid Cysts
Polydipsia ORPHA:91351
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Macroglossia, Camptodactyly, Enlarged kidney, Ventricular septal defect, Varicose veins, Mitral v... ORPHA:500095
Vascular Ehlers-Danlos Syndrome