Gene Summary

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

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
decreased prepulse inhibition Aplnrtm1.1(KOMP)Vlcg HET Early adult 8.53×10-06
abnormal epididymis morphology Aplnrtm1.1(KOMP)Vlcg HOM Early adult 0.00
preweaning lethality, incomplete penetrance Aplnrtm1.1(KOMP)Vlcg HOM   Early adult 0.00
abnormal kidney morphology Aplnrtm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal eye morphology Aplnrtm1.1(KOMP)Vlcg HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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
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
Brown adipose tissue N/A heterozygote 50% (1 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 100% (2 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 100% (2 of 2)
Diaphragm N/A heterozygote 100% (2 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 50% (1 of 2)
Esophagus N/A heterozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 100% (2 of 2)
Harderian gland N/A heterozygote 50% (1 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Ileum N/A heterozygote 100% (2 of 2)
Jejunum N/A heterozygote 100% (2 of 2)
Kidney N/A heterozygote 50% (1 of 2)
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
Lung N/A heterozygote 50% (1 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 50% (1 of 2)
Mesenteric adipose tissue N/A heterozygote 50% (1 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Olfactory lobe N/A heterozygote 100% (2 of 2)
Ovary N/A heterozygote 50% (1 of 2)
Oviduct N/A heterozygote 50% (1 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 50% (1 of 2)
Parotid gland N/A heterozygote 50% (1 of 2)
Penis N/A heterozygote 50% (1 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)
Prostate gland N/A heterozygote 50% (1 of 2)
Quadriceps N/A heterozygote 100% (2 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 100% (2 of 2)
Small intestine N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 100% (2 of 2)
Stomach pyloric region N/A heterozygote Not available
Stomach N/A heterozygote 50% (1 of 2)
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 100% (2 of 2)
Testis N/A heterozygote 50% (1 of 2)
Thymus N/A heterozygote 100% (2 of 2)
Thyroid gland N/A heterozygote 100% (2 of 2)
Tongue N/A heterozygote 50% (1 of 2)
Trachea N/A heterozygote 50% (1 of 2)
Trigeminal V nerve N/A heterozygote 100% (2 of 2)
Urinary bladder N/A heterozygote 100% (2 of 2)
Uterus N/A heterozygote 50% (1 of 2)
Vagina N/A heterozygote 50% (1 of 2)
Vas deferens N/A heterozygote 50% (1 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 50% (1 of 2)
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 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
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

X-ray

XRay Images Whole Body Dorso Ventral

40 Images

X-ray

XRay Images Whole Body Lateral Orientation

20 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
Pulmonary edema, Elevated pulmonary artery pressure, Edema OMIM:178400
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Interlobular septal thickening, Pulmonary venous occlusion, Pulmonary arterial hypertension, Elev... OMIM:265450
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res... ORPHA:275766
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension, Abnormal cerebral vascular morphology, Lymphedema OMIM:152900
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Arterial intimal fibrosis, Increased p... OMIM:178600
Familial Isolated Restrictive Cardiomyopathy
Recurrent respiratory infections, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Periphera... ORPHA:75249
Factor V Excess With Spontaneous Thrombosis
Peripheral arterial stenosis, Pulmonary embolism OMIM:134400
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ... OMIM:115197
Total Anomalous Pulmonary Venous Return 1
Recurrent respiratory infections, Total anomalous pulmonary venous return, Pulmonary arterial hyp... OMIM:106700
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... ORPHA:860
Cardiomyopathy, Familial Hypertrophic, 15
Apical hypertrophic cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic ... OMIM:613255
Congenital Gerbode Defect
Holosystolic murmur, Ventricular septal defect, Elevated jugular venous pressure, Right atrial en... ORPHA:99095
Heparin-Induced Thrombocytopenia
Stroke, Cerebral ischemia, Pulmonary embolism, Myocardial infarction ORPHA:3325
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary arterial hypertension, Pulmonary capillary hemangiomatosis, Pulmonary venous occlusion OMIM:234810
Pulmonary Hypertension, Primary, 5
Right ventricular failure, Angina pectoris, Pulmonary arterial hypertension, Syncope, Right ventr... OMIM:265400
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... OMIM:618052
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Right ventricular failure, Interlobular septal thickening, Hemothora... ORPHA:199241
Cirrhotic Cardiomyopathy
Congestive heart failure, Ascites, Elevated pulmonary artery pressure, Ventricular arrhythmia, Re... ORPHA:57777
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Pulmonary edema, Atrial s... ORPHA:980
Autism, Susceptibility To, 20
Reduced social reciprocity OMIM:618830
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Pulmonary edema, Single coronary ... ORPHA:3384
Renal Glucosuria
Enuresis nocturna, Polydipsia, Glycosuria, Polyphagia, Polyuria OMIM:233100
Familial Idiopathic Dilatation Of The Right Atrium
Holosystolic murmur, Arrhythmia, Hepatomegaly, Right atrial enlargement, Abnormal jugular vein mo... ORPHA:1677
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Coronary artery atheroscle... ORPHA:1457
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Coronary Arterial Fistula
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria... ORPHA:2041
Acquired Central Diabetes Insipidus
Polydipsia, Weight loss, Pollakisuria ORPHA:95626
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Spontaneous neonatal pneumothorax, Interstitial pneumoni... ORPHA:217563
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Palpitations, Syncope, Pulmon... ORPHA:422
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar... ORPHA:185
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia, Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber split... OMIM:253700
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Edema, Atelectasis OMIM:267450
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Cardiomyopathy, Stroke, Left atrial enlargement, Left ventricu... OMIM:611556
Gjc2-Related Late-Onset Primary Lymphedema
Facial edema, Predominantly lower limb lymphedema, Genital edema, Abnormal lymphatic vessel morph... ORPHA:568051
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Sinus bradycardia, Varicose veins, Peripheral arterial stenosis, Paten... OMIM:126320
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Tricuspid regurgitation, Ascites, Pleural effusion, Splenomegaly, Pulmo... ORPHA:2414
Bronchopulmonary Dysplasia
Right ventricular failure, Atelectasis, Emphysema, Abnormal lung morphology, Pulmonary sequestrat... ORPHA:70589
Cardiomyopathy, Dilated, 2C
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy OMIM:618189
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Automatic atrial tachycardia, Systolic heart murmur, Tricuspid re... ORPHA:99105
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Pleur... ORPHA:330001
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypotension, Atelectasis, Respiratory tract infection, Pulmonary edema, Bradycardia, T... ORPHA:70587
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Adult Acute Respiratory Distress Syndrome
Pneumonia, Vasculitis, Hypotension, Shock, Pulmonary edema ORPHA:70578
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr... OMIM:615344
Tako-Tsubo Cardiomyopathy
Dilatation of the ventricular cavity, Mitral regurgitation, Pulmonary edema, Arrhythmia, Ventricu... ORPHA:66529
Interstitial Lung Disease 2
Usual interstitial pneumonia, Alveolar cell carcinoma, Pulmonary arterial hypertension, Pulmonary... OMIM:178500
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... ORPHA:353
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Myopathy, Pulmonary edema, Increased myocardial glycogen content, Vent... OMIM:261740
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Pulmonary embolism, Abnormal cerebral vascular morphology, Venous insufficiency ORPHA:745
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Nephronophthisis 3
Nephronophthisis, Polydipsia, Failure to thrive, Stage 5 chronic kidney disease, Renal insufficie... OMIM:604387
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Ventricular septal defect, Atrial... ORPHA:99050
Ovarian Hyperstimulation Syndrome
Generalized edema, Ascites, Peripheral edema, Pleural effusion, Enlarged polycystic ovaries, Pulm... ORPHA:64739
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Tetralogy of Fallot, Abnormal heart morphology, Atrioventricular dissocia... OMIM:614954
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi... ORPHA:555874
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Edema, Congestive heart failure, Ascites, Abnorm... ORPHA:90308
Systemic Capillary Leak Syndrome
Hypotension, Pleural effusion, Pulmonary edema, Arrhythmia, Myocarditis, Pedal edema, Pericarditis ORPHA:188
Cardiomyopathy, Dilated, 1S
Pulmonary artery hypoplasia, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Cong... OMIM:613426
Pulmonary Hypertension, Primary, 3
Elevated pulmonary artery pressure, Pulmonary arterial hypertension, Increased pulmonary vascular... OMIM:615343
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Fixed Subaortic Stenosis
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... ORPHA:3092
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Right ventricular failure, Bundle branch block, Transient ischemic attack, Palpitation... ORPHA:99104
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Polydipsia, Glomerulomegaly, Recurrent urinary... ORPHA:93101
Nephronophthisis-Like Nephropathy 2
Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Polyuria, Tubular luminal dilata... OMIM:619468
Timothy Syndrome
Pneumonia, Atrioventricular block, Bronchitis, Tetralogy of Fallot, Patent foramen ovale, Ventric... OMIM:601005
Atrial Septal Defect 9
Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect OMIM:614475
Sarcoidosis, Susceptibility To, 2
Emphysema, Pleural effusion, Splenomegaly, Pulmonary arterial hypertension, Pneumothorax, Pulmona... OMIM:612387
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... OMIM:613424
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Nephronophthisis, Polydipsia, Polyuria OMIM:606996
Central Diabetes Insipidus
Polydipsia, Failure to thrive, Nocturia, Weight loss, Anorexia ORPHA:178029
Familial Atrial Fibrillation
Exercise intolerance, Chest pain, Palpitations, Fatigue, Syncope, Atrial fibrillation, Myocardial... ORPHA:334
Classic Multiminicore Myopathy
Muscular dystrophy, Right ventricular failure, Congestive heart failure, Muscle fiber atrophy, Mu... ORPHA:324604
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Reduced left ventricular ejec... OMIM:619371
Takayasu Arteritis
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Ar... ORPHA:3287
Laubry-Pezzi Syndrome
Aortic regurgitation, Abnormal coronary artery morphology, Congestive heart failure, Palpitations... ORPHA:99094
Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Dilatation of the cerebral artery, Aortic arch aneurysm, Common caro... OMIM:613834
Nephronophthisis 9
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Polyuria, Renal cortical microcysts OMIM:613824
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia, Polyuria OMIM:222100
Hughes-Stovin Syndrome
Vasculitis, Pulmonary artery aneurysm, Pulmonary embolism, Arterial stenosis, Pulmonary arterial ... ORPHA:228116
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Pulmonary embolism, Abnormal cerebral vascular morphology, Venous insufficiency ORPHA:743
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Right aortic arch, Situs inversus totalis, Patent foramen ovale, Cardiomegal... OMIM:620642
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Pleural effusion, Pulmonary edema, Arrhy... ORPHA:542323
Pulmonary Arteriovenous Malformation
Epistaxis, Bacterial endocarditis, Transient ischemic attack, Pulmonary hemorrhage, Palpitations,... ORPHA:2038
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary hypoplasia, Pulmonary arterial hypertension, Cardiomyopathy, Nonimmune hydrops fetalis OMIM:619003
Loeffler Endocarditis
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Myocardial e... ORPHA:75566
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Pleural Mesothelioma
Obstruction of the superior vena cava, Abnormal pleura morphology, Abnormal cardiovascular system... ORPHA:50251
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Pulmonary embolism ORPHA:82
Erythrocytosis, Familial, 2
Hypotension, Cerebral hemorrhage, Stroke, Pulmonary arterial hypertension, Varicose veins OMIM:263400
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Thoracic Outlet Syndrome
Edema, Varicose veins ORPHA:97330
Familial Multiple Nevi Flammei
Arteriovenous malformation, Pulmonary embolism, Venous insufficiency, Arrhythmia, Intracranial he... ORPHA:624
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
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Ped... ORPHA:99103
Limited Cutaneous Systemic Sclerosis
Joint contracture of the hand, Foot joint contracture, Telangiectasia of the skin, Pulmonary arte... ORPHA:220402
Atrial Fibrillation, Familial, 6
Reduced left ventricular ejection fraction, Left atrial enlargement, Left ventricular hypertrophy... OMIM:612201
Ochoa Syndrome
Urethral obstruction, Polydipsia, Recurrent urinary tract infections, Vesicoureteral reflux, Rena... ORPHA:2704
Amyloidosis, Hereditary Systemic 1
Cardiomyopathy, Stroke-like episode, Orthostatic hypotension due to autonomic dysfunction, Pulmon... OMIM:105210
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Tetralogy of Fallot, Congenital diaphragmatic hernia, Pulmonary arterial... OMIM:300887
Adams-Oliver Syndrome 5
Splenomegaly, Patent foramen ovale, Pulmonary arterial hypertension, Right atrial enlargement, Ri... OMIM:616028
Preeclampsia
Elevated diastolic blood pressure, Elevated systolic blood pressure, Pulmonary edema, Hypertension ORPHA:275555
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Situs inversus totalis, Atrial situs inv... OMIM:615067
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Nephronophthisis 1
Tubular basement membrane disintegration, Nephronophthisis, Polydipsia, Stage 5 chronic kidney di... OMIM:256100
Combined Oxidative Phosphorylation Defect Type 23
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... ORPHA:444013
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pulmonary lymphangiectasi... OMIM:265380
High Altitude Pulmonary Edema
Pulmonary edema, Tachycardia ORPHA:330012
Allergic Bronchopulmonary Aspergillosis
Emphysema, Pulmonary arterial hypertension, Bronchiectasis ORPHA:1164
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... ORPHA:3193
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Sudden cardiac... OMIM:115210
Meckel Syndrome, Type 7
Aortic valve stenosis, Hepatosplenomegaly, Oligohydramnios, Portal hypertension, Situs inversus t... OMIM:267010
Milroy Disease
Predominantly lower limb lymphedema, Abnormal venous morphology, Lymphedema, Varicose veins, Peda... ORPHA:79452
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Atrial Standstill
Atrial standstill, Abnormal P wave, Postexertional symptom exacerbation, Cardiomyopathy, Congesti... ORPHA:1344
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc... ORPHA:268
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Persistent fetal circulat... ORPHA:363705
Nephronophthisis 4
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubul... OMIM:606966
Mogs-Cdg
Generalized edema, Hepatosplenomegaly, Polyhydramnios, Cardiomegaly, Pulmonary edema, Left ventri... ORPHA:79330
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Hereditary Central Diabetes Insipidus
Weight loss, Polydipsia ORPHA:30925
Yellow Nail Syndrome
Lymphedema, Hypoplasia of lymphatic vessels, Pulmonary arterial hypertension, Recurrent respirato... ORPHA:662
Angioosteohypotrophic Syndrome
Telangiectasia of the skin, Venous malformation, Prominent superficial veins, Edema ORPHA:75508
Cocaine Intoxication
Diffuse alveolar hemorrhage, Hypotension, Aortic dissection, Prolonged QRS complex, Ischemic stro... ORPHA:90068
Catastrophic Antiphospholipid Syndrome
Pulmonary embolism, Arterial occlusion, Abnormal heart valve morphology, Transient ischemic attac... ORPHA:464343
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Second degree atrioventricular block, Ascites, Oligohydramnios, Ventricular septal defect, Nonimm... OMIM:617021
Keutel Syndrome
Recurrent sinusitis, Ventricular septal defect, Pulmonary artery stenosis, Pulmonary arterial hyp... ORPHA:85202
Pulmonary Hypertension, Primary, 2
Abnormally loud pulmonic component of the second heart sound, Pulmonary arterial hypertension, In... OMIM:615342
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Atrial fibrillation, Lef... OMIM:613876
Combined Oxidative Phosphorylation Deficiency 22
Pulmonary arterial hypertension, Congestive heart failure OMIM:616045
Congenital Fibrinogen Deficiency
Tachycardia, Left ventricular hypertrophy, Right ventricular hypertrophy, Internal hemorrhage ORPHA:335
Interatrial Communication
Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai... ORPHA:1478
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... OMIM:615248
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m... ORPHA:1345
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Hellp Syndrome
Generalized edema, Hypotension, Pleural effusion, Pulmonary edema, Internal hemorrhage, Cerebral ... ORPHA:244242
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Polyhydramnios, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance,... OMIM:612949
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int... OMIM:265120
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Arrhythm... ORPHA:154
Nephrogenic Diabetes Insipidus
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Failure to thrive, Polydip... ORPHA:223
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Pulmonary embolism, Cerebral hemorrhage OMIM:614514
Stuve-Wiedemann Syndrome 2
Camptodactyly, Pulmonary arterial hypertension, Congestive heart failure OMIM:619751
Varicose Veins
Varicose veins OMIM:192200
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Hand muscle weakness, Type 1 muscle fiber predominance, Myopathy, Pulmon... ORPHA:98915
Mucolipidosis Type Iii Alpha/Beta
Aortic regurgitation, Recurrent upper respiratory tract infections, Congestive heart failure, Dia... ORPHA:423461
Congenital Tricuspid Stenosis
Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ... ORPHA:95459
Heterotaxy, Visceral, 4, Autosomal
Common atrium, Total anomalous pulmonary venous return, Bilateral superior vena cava, Atrioventri... OMIM:613751
Senior-Loken Syndrome 3
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyu... OMIM:606995
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Ebstein Malformation Of The Tricuspid Valve
Ebstein anomaly of the tricuspid valve, Congestive heart failure, Chest pain, Cerebral ischemia, ... ORPHA:1880
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef... OMIM:613697
Microcephaly-Capillary Malformation Syndrome
Right ventricular hypertrophy, Atrial septal defect, Patent foramen ovale, Ventricular septal defect OMIM:614261
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Intraalveolar phos... OMIM:610913
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Oligohydramnios, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Arthrogry... OMIM:208085
Meige Disease
Facial edema, Predominantly lower limb lymphedema, Lymphedema, Peripheral edema, Pleural effusion... ORPHA:90186
Senior-Loken Syndrome 1
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Impaired renal... OMIM:266900
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Bardet-Biedl Syndrome 9
Polydipsia, Obesity, Renal insufficiency, Polyphagia, Truncal obesity OMIM:615986
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly OMIM:619064
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:612336
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Hemorrhagic Fever-Renal Syndrome
Pneumonia, Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Palpitations, Pleural effus... ORPHA:340
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Polydipsia, Polyuria, Megacystis OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Polydipsia, Polyuria, Megacystis OMIM:304800
Meconium Aspiration Syndrome
Atelectasis, Aspiration pneumonia, Pulmonary arterial hypertension, Pneumothorax, Abnormal heart ... ORPHA:70588
Cardiomyopathy, Familial Hypertrophic, 21
Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop... OMIM:614676
Sengers Syndrome
Hypertrophic cardiomyopathy, Myopathy, Pulmonary arterial hypertension, Cardiac arrest, Sudden ca... OMIM:212350
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... OMIM:608751
Cutis Laxa, Autosomal Recessive, Type Ic
Peripheral pulmonary artery stenosis, Morgagni diaphragmatic hernia, Recurrent pneumonia, Atelect... OMIM:613177
Scorpion Envenomation
Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Cardiac condu... ORPHA:466677
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Cardiomegaly, Pulm... OMIM:619051
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Pulmonary edema, Prolonged QT interval, Cerebral ed... ORPHA:31826
Kagami-Ogata Syndrome
Diastasis recti, Splenomegaly, Polyhydramnios, Ventricular septal defect, Pulmonary arterial hype... OMIM:608149
Cardiomyopathy, Familial Hypertrophic, 18
Hypertrophic cardiomyopathy, Atrial fibrillation, Paroxysmal atrial fibrillation, Left ventricula... OMIM:613874
Congenital Heart Block
Exercise intolerance, Atrioventricular block, Second degree atrioventricular block, Third degree ... ORPHA:60041
Cystinosis
Nephropathy, Aminoaciduria, Polydipsia, Failure to thrive, Renal insufficiency, Renal tubular dys... ORPHA:213
Antisynthetase Syndrome
Aortic regurgitation, Xerostomia, Myositis, Pulmonary arterial hypertension, Telangiectasia of th... ORPHA:81
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation OMIM:614651
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Gastroin... OMIM:187300
Ogden Syndrome
Torsade de pointes, Ventricular septal defect, Pulmonary edema, Premature ventricular contraction... OMIM:300855
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hepatomegaly, Arthrogryposis multiplex congenita, Right ventricular hypertrophy, Ventricular sept... OMIM:613404
East Syndrome
Polydipsia, Abnormal urinary electrolyte concentration, Renal magnesium wasting, Renal sodium was... ORPHA:199343
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Br... ORPHA:95430
Kleine-Levin Syndrome
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... ORPHA:33543
Proteus Syndrome
Venous malformation, Splenomegaly OMIM:176920
Teratoma, Pineal
Polydipsia, Polyuria OMIM:273120
Atrial Septal Defect 1
Aortic valve stenosis, Second degree atrioventricular block, Secundum atrial septal defect, Tetra... OMIM:108800
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... OMIM:613838
Apparent Mineralocorticoid Excess
Nephrocalcinosis, Polydipsia, Failure to thrive, Renal insufficiency, Abnormal urine sodium conce... ORPHA:320
Oligomeganephronia
Unilateral renal agenesis, Abnormal nephron morphology, Polydipsia, Glomerulomegaly, Bilateral re... ORPHA:2260
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Ventricular hypertrophy, Second degree atrioventricular block, Ventricular septal defe... ORPHA:369929
Thymic Carcinoma
Palpebral edema, Abnormal vena cava morphology, Edema ORPHA:99868
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Aortic valve calcification, Abnormal pulse pressure, Increased QRS voltage... ORPHA:3093
Gaucher Disease, Type I
Aortic valve stenosis, Epistaxis, Mitral regurgitation, Splenomegaly, Pulmonary arterial hyperten... OMIM:230800
Lymphatic Malformation 6
Facial edema, Generalized edema, Chylothorax, Intestinal lymphangiectasia, Lymphedema, Ascites, P... OMIM:616843
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co... ORPHA:1686
Familial Thrombocytosis
Transient ischemic attack, Cerebral ischemia, Splenomegaly, Pulmonary arterial hypertension, Sync... ORPHA:71493
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Pulmonary arterial hypertension, Hypertension, Vascular dilatation OMIM:613320
Eisenmenger Syndrome
Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Hepatomegaly, ... ORPHA:97214
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Telangiectasia, Hereditary Hemorrhagic, Type 4
Arteriovenous fistulas of celiac and mesenteric vessels, Spinal arteriovenous malformation, Right... OMIM:610655
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula... OMIM:615474
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... OMIM:618300
Foxp1 Syndrome
Abnormal heart morphology, Flexion contracture, Pulmonary arterial hypertension, Recurrent upper ... ORPHA:391372
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:210122
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Coarctation of aorta, Pulmonary arterial hypertension, Patent ductus arteriosus, Atrial septal de... OMIM:614857
Hyperaldosteronism, Familial, Type Iii
Hypercalciuria, Polydipsia, Polyuria OMIM:613677
Von Willebrand Disease
Epistaxis, Gastrointestinal hemorrhage, Gastrointestinal angiodysplasia, Muscle hemorrhage, Venou... ORPHA:903
Japanese Encephalitis
Skeletal muscle atrophy, Elbow flexion contracture, Distal lower limb muscle weakness, Pulmonary ... ORPHA:79139
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... OMIM:616749
Nephronophthisis 11
Tubular basement membrane disintegration, Nephronophthisis, Polydipsia, Stage 5 chronic kidney di... OMIM:613550
Parkes Weber Syndrome
Arteriovenous malformation, Vascular tortuosity, Lower limb muscle weakness, Venous malformation,... ORPHA:90307
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Polydipsia, Hypernatriuria, Failure to thrive, Decreased glomerular filtration ... OMIM:602522
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Polydipsia, Failure to thrive, Low-molecul... ORPHA:18
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Generalized edema, Pulmonary embolism, Intestinal lymphangiectasia, Budd-Chiari syndrome, Ascites... OMIM:226300
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly of finger, Elbow flexion contracture, Hepatosplenomegaly, Facial telangiectasia, Jo... OMIM:602782
Braddock Syndrome
Pulmonary fibrosis, Pulmonary arterial hypertension, Congenital muscular torticollis ORPHA:52047
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Dilated cardiomyopathy, Congestive heart failure, Pulmonary edema, Pericardial effusion, Sudden c... ORPHA:73224
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Proximal muscle weakness in lower limbs, Peripheral pulmonary artery stenosis, Aortic root aneury... ORPHA:280633
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Facial telangiectasia, Cerebral art... OMIM:600376
Hurler-Scheie Syndrome
Aortic regurgitation, Recurrent respiratory infections, Camptodactyly of finger, Contracture of t... OMIM:607015
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Tricuspid regurgitation, Pleural effusio... OMIM:620233
Mitochondrial Complex I Deficiency, Nuclear Type 37
Stroke-like episode, Pulmonary arterial hypertension, Skeletal muscle atrophy, Bradycardia OMIM:619272
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Arteriovenous malformation, Venous insufficiency, Congestive heart failure ORPHA:137608
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Arteriovenous malformation, Tetralogy of Fallot, Ascites, Portal hyp... ORPHA:974
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Bidirectional shunt, Oligohydramnios, Thoracic aortic aneurysm, Elevated pulmonary artery pressur... OMIM:619351
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Ped... ORPHA:2299
Hereditary Hemorrhagic Telangiectasia
Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Retinal telangiectasia, ... ORPHA:774
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Xerostomia, Splenomegaly, Joint swelling, Myositis, Hepatomegaly, Pu... ORPHA:809
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita... ORPHA:70591
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Polydipsia, Failure to thrive, Hyperphosphaturia, Hypercalciuria, Polyuria OMIM:239200
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Kaposi Sarcoma
Lymphedema, Abnormal lung morphology, Venous insufficiency ORPHA:33276
Proximal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Polydipsia, Glycosuria, Hypernatriuria, Failure to thrive, Low-m... ORPHA:47159
Bardet-Biedl Syndrome 17
Polydipsia, Obesity, Stage 5 chronic kidney disease, Renal cyst, Polyuria, Micropenis OMIM:615994
Lymphatic Malformation 13
Lymphedema, Ascites, Mitral regurgitation, Patent foramen ovale, Nonimmune hydrops fetalis, Pulmo... OMIM:620244
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bilateral superior vena cava, Hypertrophic cardiomyopathy, Mitral atresia, Mitral regurgitation, ... OMIM:220111
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Arterial dissection, Recurrent pneumonia, Aortic dissection, Abnormal venous morphology, Congesti... ORPHA:1900
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent upper respiratory tract infections, Secundum atrial septal defect, Recurrent respirator... OMIM:612541
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopathy, Polydipsia,... ORPHA:411634
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypocalciuria, Enuresis, Polydipsia, Renal sodium wasting, Salt craving, Polyuria, Renal salt was... OMIM:612780
Hypomagnesemia 3, Renal
Chronic kidney disease, Hematuria, Macroscopic hematuria, Polydipsia, Sterile pyuria, Renal magne... OMIM:248250
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric... OMIM:613873
Diffuse Cutaneous Systemic Sclerosis
Hypertensive crisis, Xerostomia, Congestive heart failure, Telangiectasia of the skin, Pulmonary ... ORPHA:220393
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom... OMIM:163800
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pulmonary arterial hypertension OMIM:619059
Overlap Myositis
Proximal muscle weakness in upper limbs, Perifascicular muscle fiber atrophy, Abnormal heart morp... ORPHA:206572
Primary Ciliary Dyskinesia
Atelectasis, Atrial situs ambiguous, Abnormal inferior vena cava morphology, Abnormal heart morph... ORPHA:244
Diaphragmatic Hernia 4, With Cardiovascular Defects
Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Pulmonary hypoplasia, Aortic roo... OMIM:620025
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Dilated cardiomyopathy, Rhabdomyolysis, Ventricular septal defect, ... OMIM:614921
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Ventricular sept... ORPHA:2519
Cardiogenic Shock
Hypotension, Right ventricular failure, Edema, Abnormal left ventricular function, Congestive hea... ORPHA:97292
Viss Syndrome
Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Mitral valve prolapse, V... OMIM:619472
Senior-Boichis Syndrome
Chronic kidney disease, Renal hypoplasia, Polydipsia, Abnormal urinary electrolyte concentration,... ORPHA:84081
Gitelman Syndrome
Hypocalciuria, Enuresis, Renal magnesium wasting, Failure to thrive, Polydipsia, Salt craving, Po... OMIM:263800
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Chylothorax, Lymphedema, Tetralogy of Fallot, Ventricular se... OMIM:153400
Schimke Immuno-Osseous Dysplasia
Congestive heart failure, Atherosclerosis, Transient ischemic attack, Ischemic stroke, Cerebral i... ORPHA:1830
Systemic Sclerosis
Intestinal bleeding, Right ventricular failure, Abnormal pulmonary interstitial morphology, Nail ... ORPHA:90291
Infantile Nephropathic Cystinosis
Aminoaciduria, Polydipsia, Glycosuria, Failure to thrive, Low-molecular-weight proteinuria, Hyper... ORPHA:411629
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Lacunar stroke, Vascular granular osmiophilic material deposition, Stroke, Varicose veins OMIM:125310
Helix Syndrome
Hypocalciuria, Polydipsia, Renal insufficiency, Nephrolithiasis, Polyuria OMIM:617671
X-Linked Intellectual Disability, Nascimento Type
Peripheral pulmonary artery stenosis, Recurrent respiratory infections, Tetralogy of Fallot, Olig... ORPHA:163956
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery aneurysm, Aortic root aneurysm, Pulmonary artery dilatation, Vascular tortuosity... OMIM:614437
Liver Disease, Severe Congenital
Pneumonia, Ascites, Dilatation of the ventricular cavity, Splenomegaly, Patent foramen ovale, Ven... OMIM:619991
Structural Heart Defects And Renal Anomalies Syndrome
Interrupted aortic arch, Generalized edema, Tetralogy of Fallot, Right aortic arch, Truncus arter... OMIM:617478
Enlarged Parietal Foramina
Venous malformation, Abnormal cerebral vein morphology ORPHA:60015
Meacham Syndrome
Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Dextrocardia, Patent duct... OMIM:608978
Tetrasomy 5P
Congestive heart failure, Pulmonary arterial hypertension, Aplasia/Hypoplasia of the abdominal wa... ORPHA:3309
Liposarcoma
Varicose veins ORPHA:69078
Schimke Immunoosseous Dysplasia
Transient ischemic attack, Cerebral ischemia, Stroke, Pulmonary arterial hypertension, Arterioscl... OMIM:242900
Spastic Paraplegia Type 2
Recurrent respiratory infections, Pulmonary embolism ORPHA:99015
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Atherosclerosis, Mitral regurgitation, Right bundle branch block, Left atrial ... OMIM:614008
19P13.3 Microduplication Syndrome
Pulmonary arterial hypertension, Ventricular septal defect ORPHA:447980
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Spontaneous pneumothorax, Vertebral artery aneurysm, Arterial tortuosity... OMIM:619656
Clapo Syndrome
Lymphedema, Venous malformation, Varicose veins ORPHA:168984
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Cardiomyopathy, Absent muscle fiber merosin, Atelectasis, Reduced left ventri... ORPHA:258
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Facial edema, Pulmonary embolism, Edema, Anasarca, Ascites, Pleural effusion, Respiratory tract i... ORPHA:567546
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy, Right ventricular ... OMIM:300967
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Familial Hyperaldosteronism Type Iii
Hypercalciuria, Polydipsia ORPHA:251274
Marfanoid Habitus With Situs Inversus
Aortic regurgitation, Aortic root aneurysm, Situs inversus totalis, Mitral valve prolapse, Persis... OMIM:609008
Cirrhosis, Familial
Ascites, Pulmonary arterial hypertension, Hypertension OMIM:215600
Poems Syndrome
Visceromegaly, Ascites, Pleural effusion, Splenomegaly, Pulmonary arterial hypertension, Hepatome... ORPHA:2905
Gaucher Disease Type 3
Aortic valve calcification, Abnormal heart valve morphology, Splenomegaly, Pulmonary arterial hyp... ORPHA:77261
Polycythemia Vera
Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Budd-Chiari syndrome, Portal hyperten... ORPHA:729
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Patent foramen ovale, Pulmonary arterial hypertension, Atrial septal defect, Polyhydramnios, Recu... OMIM:620186
17Q23.1Q23.2 Microdeletion Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Congenital contracture, Patent ductus arte... ORPHA:261279
Cystinosis, Nephropathic
Aminoaciduria, Generalized aminoaciduria, Polydipsia, Glycosuria, Failure to thrive, Failure to t... OMIM:219800
Lymphoid Interstitial Pneumonia
Bronchiectasis, Subpleural interstitial thickening, Pulmonary venous hypertension, Respiratory tr... ORPHA:79128
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Macroglossia, Recurrent respiratory infections, Congestive heart failure, Hypertrophic cardiomyop... ORPHA:505248
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Tricuspid regurgitation, Abnormal left ventricle morphology, Right ventricular hypertrophy, Paten... ORPHA:466791
Livedoid Vasculopathy
Ischemic stroke, Venous insufficiency, Telangiectasia of the skin, Varicose veins, Abnormal capil... ORPHA:542643
Familial Cold Urticaria
Polydipsia ORPHA:47045
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Medial calcification of large arteries, Retinal hemorrhage, Coronary art... ORPHA:51608
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Aortic arch aneurysm, Abdominal aortic aneurysm, Mitral regurgitation, Coro... OMIM:617168
Basel-Vanagaite-Smirin-Yosef Syndrome
Recurrent pneumonia, Contracture of the proximal interphalangeal joint of the 3rd finger, Ventric... ORPHA:464738
Basel-Vanagaite-Smirin-Yosef Syndrome
Recurrent pneumonia, Pulmonary arterial hypertension, Atrial septal defect, Ventricular septal de... OMIM:616449
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Increased urinary potassium ORPHA:231580
Autosomal Dominant Spastic Paraplegia Type 10
Leg muscle stiffness, Lower limb muscle weakness, Distal lower limb amyotrophy, Dupuytren contrac... ORPHA:100991
Bartter Syndrome, Type 2, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Small for... OMIM:241200
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent upper respiratory tract infections, Medial calcification of large arteries, Congestive ... ORPHA:391487
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Patent foramen ovale, Ventricular septal defect, Pulmonary arterial hyperten... ORPHA:209905
Fg Syndrome Type 1
Mitral valve prolapse, Coarctation of aorta, Pulmonary arterial hypertension, Progressive flexion... ORPHA:93932
Loeys-Dietz Syndrome 4
Aortic root aneurysm, Aortic dissection, Arterial tortuosity, Dilatation of the cerebral artery, ... OMIM:614816
Lysosomal Acid Lipase Deficiency
Hypotension, Ascites, Hepatosplenomegaly, Coronary artery atherosclerosis, Stroke, Pulmonary arte... ORPHA:275761
ERI1-related disease
Tricuspid regurgitation, Pulmonary arterial hypertension, Abnormal heart morphology, Ventricular ... OMIM:608739
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Polydipsia, Polyuria, Nephrolithiasis OMIM:617994
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Facial paralysis OMIM:605711
Adams-Oliver Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Ventricular septal defect, Pu... OMIM:100300
Simpson-Golabi-Behmel Syndrome, Type 1
Total anomalous pulmonary venous return, Cardiomyopathy, Abnormal lung lobation, Diastasis recti,... OMIM:312870
3Q29 Microdeletion Syndrome
Pulmonary arterial hypertension, Subvalvular aortic stenosis, Patent ductus arteriosus ORPHA:65286
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Torticollis, Varicose veins OMIM:314300
Mucopolysaccharidosis, Type Vi
Pneumonia, Macroglossia, Recurrent upper respiratory tract infections, Sinus tachycardia, Cardiom... OMIM:253200
Trichorhinophalangeal Syndrome, Type Ii
Recurrent pneumonia, Recurrent upper respiratory tract infections, Recurrent respiratory infectio... OMIM:150230
Crimean-Congo Hemorrhagic Fever
Retinal hemorrhage, Hepatomegaly, Tachycardia, Diffuse alveolar hemorrhage, Bundle branch block, ... ORPHA:99827
Geleophysic Dysplasia 2
Aortic valve stenosis, Mitral regurgitation, Mitral stenosis, Mitral valve prolapse, Pulmonary ar... OMIM:614185
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Abnormality of the pulmonary vasculature, Arrhythmia, Varico... ORPHA:33001
Dermatomyositis
Vasculitis, Periorbital edema, Sinus tachycardia, Inflammatory myopathy, EMG: myopathic abnormali... ORPHA:221
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormal cerebral vascular morphology, Telangiectasia of the skin, Abnormal venous morphology, En... ORPHA:276280
Renal Nutcracker Syndrome
Dilatation of mesenteric artery, Renal artery stenosis, Vulval varicose vein, Syncope, Orthostati... ORPHA:71273
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Type 2 muscle fiber atrophy OMIM:613845
Melas
Dilated cardiomyopathy, Cardiomyopathy, Concentric hypertrophic cardiomyopathy, Hypertrophic card... ORPHA:550
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Abnormal heart morphology, Strok... ORPHA:79282
Gaucher Disease Type 1
Ascites, Hepatosplenomegaly, Portal hypertension, Splenomegaly, Pulmonary arterial hypertension, ... ORPHA:77259
Foix-Alajouanine Syndrome
Lower limb muscle weakness, Distal lower limb amyotrophy, Venous malformation, Distal lower limb ... ORPHA:79093
Idiopathic Steroid-Resistant Nephrotic Syndrome
Periorbital edema, Pulmonary embolism, Respiratory tract infection, Edema ORPHA:567548
Parathyroid Carcinoma
Nephrocalcinosis, Polydipsia, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithias... ORPHA:143
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal aortic arch morphology, Abnormality of the pulmonary veins, Abnor... ORPHA:2306
Pediatric-Onset Graves Disease
Polyphagia, Polydipsia, Failure to thrive, Hyperactivity ORPHA:525731
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Third degree atrioventricular block, Anasarca, Biventricular hypertrophy,... OMIM:619573
Osteogenesis Imperfecta, Type Iii
Pulmonary arterial hypertension OMIM:259420
Stuve-Wiedemann Syndrome 1
Pulmonary hypoplasia, Elbow flexion contracture, Oligohydramnios, Knee flexion contracture, Pulmo... OMIM:601559
Encephalocraniocutaneous Lipomatosis
Aortic valve stenosis, Interrupted aortic arch, Abnormal aortic morphology, Tricuspid valve prola... ORPHA:2396
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Aortic valve calcification, Bacterial endocarditis, Hepatosplenomegaly, Calcification of the aort... ORPHA:2072
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Acute kidney injury, Multicystic kidney dysplasia, Polydipsia, Renal agenesis, Horseshoe kidney, ... ORPHA:93111
Carey-Fineman-Ziter Syndrome 1
Hypoplasia of the musculature, Skeletal muscle atrophy, Pectoralis hypoplasia, Myopathy, Weakness... OMIM:254940
Sarcoidosis, Susceptibility To, 1
Emphysema, Pericardial effusion, Pleural effusion, Splenomegaly, Pulmonary arterial hypertension,... OMIM:181000
Proteus-Like Syndrome
Bronchogenic cyst, Splenomegaly, Venous insufficiency ORPHA:2969
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Obesity, Polydipsia ORPHA:3157
Developmental Delay With Or Without Dysmorphic Facies And Autism
Congenital diaphragmatic hernia, Patent foramen ovale, Ventricular septal defect, Coarctation of ... OMIM:618454
Arima Syndrome
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Pr... OMIM:243910
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Splenomegaly, High-output congestive heart failure, Pulmonary arterial hypert... ORPHA:231222
Diffuse Alveolar Hemorrhage
Pulmonary fibrosis, Irregular septal thickening on pulmonary HRCT, Pulmonary venous hypertension ORPHA:90060
Glomuvenous Malformation
Venous malformation, Arteriovenous malformation, Gastrointestinal arteriovenous malformation ORPHA:83454
Juvenile Polyposis Syndrome
Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Arteriovenous malformation, Anasarca, Trans... ORPHA:2929
Toxic Epidermal Necrolysis
Abnormality of the urethra, Polydipsia, Renal insufficiency, Weight loss, Dysphagia, Dysuria ORPHA:537
Pulmonary Alveolar Microlithiasis
Right ventricular failure, Bronchitis, Interlobular septal thickening, Subpleural interstitial th... ORPHA:60025
Renal Cysts And Diabetes Syndrome
Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Stage 5 chronic kidney disease, Ureterop... OMIM:137920
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Tricuspid regurgitation, Pulmonary arterial hypertension, Atrial septal defect, Ventricular septa... OMIM:620663
Familial Hyperaldosteronism Type I
Polydipsia ORPHA:403
Marshall-Smith Syndrome
Recurrent upper respiratory tract infections, Aspiration pneumonia, Ventricular septal defect, Pr... OMIM:602535
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Recurrent respiratory infections, Pulmonary arterial hypertension, Patent ductus arteriosus ORPHA:2282
Fontaine Progeroid Syndrome
Tricuspid regurgitation, Abnormal heart morphology, Oligohydramnios, Bicuspid aortic valve, Aorti... OMIM:612289
Erdheim-Chester Disease
Polydipsia, Renal insufficiency, Hydronephrosis, Weight loss, Dysuria ORPHA:35687
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Pulmonary arterial hypertension, Congestive heart failure OMIM:616482
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Mitral regurgitation,... ORPHA:740
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Heart murmur, Abnormal vena cava morphology, Ventricular septal defect ORPHA:166035
Whipple Disease
Cachexia, Polydipsia, Anorexia ORPHA:3452
Hyperparathyroidism-Jaw Tumor Syndrome
Nephrocalcinosis, Polydipsia, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithias... ORPHA:99880
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Prolonged QT interval, Flexion contracture, Pulmonary arterial hypertension, Camptodactyly OMIM:620029
Ehlers-Danlos Syndrome, Vascular Type
Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Dilatation of the cerebral artery, Arteria... OMIM:130050
Gitelman Syndrome
Focal segmental glomerulosclerosis, Enuresis, Polydipsia, Failure to thrive, Renal tubular acidos... ORPHA:358
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Venous malformation, Splenomegaly OMIM:612918
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Pulmonary embolism, Skeletal muscle atrophy, Angioedema, Congestive heart... ORPHA:3260
Blau Syndrome
Xerostomia, Camptodactyly of finger, Large vessel vasculitis, Splenomegaly, Joint swelling, Aorti... ORPHA:90340
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Vascular dilatation, Varicose veins, Camptodactyly, Pulmonic stenosis OMIM:618343
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Gastrointestinal hemorrhage, Pulmonary embolism, Arteriovenous malformation, Cerebral ischemia, H... ORPHA:394
15Q Overgrowth Syndrome
Contracture of the proximal interphalangeal joint of the 2nd finger, Tricuspid regurgitation, Con... ORPHA:314585
Hallermann-Streiff Syndrome
Recurrent pneumonia, Telangiectasia, Pulmonary arterial hypertension, Recurrent respiratory infec... OMIM:234100
Incontinentia Pigmenti
Congestive heart failure, Camptodactyly of finger, Cerebral ischemia, Telangiectasia of the skin,... ORPHA:464
Gaucher Disease
Aortic valve calcification, Cherry red spot of the macula, Abnormal pericardium morphology, Abnor... ORPHA:355
Thymic Neuroendocrine Tumor
Abnormal vena cava morphology, Prominent veins on trunk ORPHA:97289
Biliary, Renal, Neurologic, And Skeletal Syndrome
Unbalanced atrioventricular canal defect, Ventricular septal defect, Dextrocardia, Hepatomegaly, ... OMIM:619534
H Syndrome
Bronchiectasis, Hepatosplenomegaly, Abnormal cardiovascular system physiology, Facial telangiecta... ORPHA:168569
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Pulmonary arterial hypertension, Bradycardia, Hepatomegaly, Tachycardia, Cardiac arrest OMIM:277400
Behçet Disease
Aortic regurgitation, Vasculitis, Gastrointestinal hemorrhage, Pulmonary embolism, Cerebral ische... ORPHA:117
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Shoulder flexion contracture, Skeletal muscle hypertrophy, Hip contractu... ORPHA:800
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Pulmonary embolism, Splenomegaly OMIM:185000
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Aortic root aneurysm, Congestive heart failure, Abnormal heart morphology, Aspiration pneumonia, ... ORPHA:444077
Degcags Syndrome
Pneumonia, Hepatosplenomegaly, Polyhydramnios, Patent foramen ovale, Ventricular septal defect, P... OMIM:619488
Wolfram Syndrome
Nephropathy, Abnormality of the urinary system, Polydipsia, Recurrent urinary tract infections, D... ORPHA:3463
Autosomal Recessive Malignant Osteopetrosis
Abnormal pulmonary valve morphology, Splenomegaly, Pulmonary artery stenosis, Pulmonary arterial ... ORPHA:667
Geleophysic Dysplasia 1
Aortic valve stenosis, Joint contracture of the hand, Congestive heart failure, Camptodactyly of ... OMIM:231050
Holt-Oram Syndrome
Atrioventricular dissociation, Mitral regurgitation, Mitral valve prolapse, Sinus bradycardia, Ve... OMIM:142900
Lipodystrophy, Familial Partial, Type 7
Spontaneous pneumothorax, Lower limb muscle weakness, Pleural effusion, Pulmonary arteriovenous m... OMIM:606721
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral regurgitat... OMIM:613795
Panhypophysitis
Polydipsia, Hyposthenuria ORPHA:95513
Glycogen Storage Disease Ic
Spider hemangioma, Recurrent upper respiratory tract infections, Pulmonary arterial hypertension,... OMIM:232240
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Renal artery stenosis, Increased nuchal translucency, Ventri... ORPHA:3472
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Portal hypertension, Patent foramen ovale, Pulmonary arterial hypertension, Atrial septal defect,... OMIM:620005
Ctcf-Related Neurodevelopmental Disorder
Pulmonary hemorrhage, Mitral regurgitation, Joint contracture of the 5th finger, Coarctation of a... ORPHA:363611
Menkes Disease
Gastrointestinal hemorrhage, Arterial stenosis, Venous insufficiency, Aplasia/Hypoplasia of the a... ORPHA:565
17Q11 Microdeletion Syndrome
Rhabdomyosarcoma, Hypertrophic cardiomyopathy, Dilatation of the cerebral artery, Abnormal heart ... ORPHA:97685
Sickle Cell Anemia
Pulmonary arterial hypertension, Ischemic stroke ORPHA:232
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormal aortic arch morphology, Interphalangeal joint contracture of finger, Hypertrophic cardio... ORPHA:96334
Sturge-Weber Syndrome
Conjunctival telangiectasia, Pulmonary embolism, Abnormal cerebral vascular morphology, Stroke ORPHA:3205
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic valve stenosis, Aortic regurgitation, Ventricular hypertrophy, Camptodactyly of finger, Tr... OMIM:143095
48,Xxxy Syndrome
Recurrent respiratory infections, Pulmonary embolism ORPHA:96263
Tetrasomy 9P
Pulmonary hypoplasia, Juxtaductal coarctation of the aorta, Abnormal mitral valve morphology, Pat... ORPHA:3310
49,Xxxxy Syndrome
Recurrent respiratory infections, Pulmonary embolism ORPHA:96264
Dehydrated Hereditary Stomatocytosis
Splenomegaly, Pulmonary venous hypertension, Edema ORPHA:3202
Von Hippel-Lindau Syndrome
Epididymal cyst, Papillary cystadenoma of the epididymis, Multiple renal cysts OMIM:193300
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Pulmonary embolism, Aspiration pneumonia, Rhabdomyolysis, Arrhy... ORPHA:94093
Melnick-Needles Syndrome
Tricuspid valve prolapse, Recurrent respiratory infections, Pulmonary arterial hypertension, Mitr... OMIM:309350
Classical-Like Ehlers-Danlos Syndrome Type 2
Aortic root aneurysm, Prominent veins on trunk, Mitral valve prolapse, Carotid artery stenosis, V...