Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
natriuretic peptide receptor 1
Synonyms:
NPR-A,  NPRA,  GC-A,  guanylyl cyclase-A

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Npr1 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 Npr1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:613881
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... OMIM:613252
Hypertension, Essential
Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure OMIM:145500
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:607482
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... OMIM:613286
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... OMIM:606685
Cardiomyopathy, Dilated, 2A
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:611880
Hyperaldosteronism, Familial, Type Iv
Hypertension, Hyperaldosteronism OMIM:617027
Cardiomyopathy, Dilated, 2B
Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate... OMIM:614672
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Familial Aortic Dissection
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... ORPHA:229
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... OMIM:605362
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Hydrops Fetalis, Nonimmune
Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis OMIM:236750
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... OMIM:613255
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Right ventricular dilata... ORPHA:2041
Sensorineural Deafness With Dilated Cardiomyopathy
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy ORPHA:217622
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnorm... ORPHA:563
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Hypertension, Paraganglioma OMIM:618464
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Hyperaldosteronism, Familial, Type Ii
Hypertension, Hyperaldosteronism OMIM:605635
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Aortic Aneurysm, Familial Thoracic 4
Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr... OMIM:132900
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating ACTH level, Hypertension, Increased circulating cor... OMIM:615962
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concent... OMIM:300257
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart ... ORPHA:422
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... ORPHA:99105
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Decreased circulat... OMIM:103900
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... OMIM:613642
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Preeclampsia/Eclampsia 1
Hypertension, Edema OMIM:189800
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... OMIM:614022
Fibromuscular Dysplasia, Arterial
Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudication, Aortic disse... OMIM:135580
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Hydrops fetalis, Abnormal ... ORPHA:45452
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Diabetes mellitus, Myocardial infarction OMIM:608320
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Asymmetric septal hypertrophy OMIM:192600
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Hypokalemia, Second degree at... OMIM:615474
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Ethanolaminosis
Cardiomegaly OMIM:227150
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Elevated circulating creatine ... OMIM:253700
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Heparin-Induced Thrombocytopenia
Myocardial infarction, Pulmonary embolism, Stroke, Cerebral ischemia, Increased serum serotonin ORPHA:3325
Long Qt Syndrome 3
Ventricular flutter, Nonimmune hydrops fetalis, Sudden cardiac death, Ventricular tachycardia, Hy... OMIM:603830
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Fetal Parvovirus Syndrome
Increased nuchal translucency, Hypertrophic cardiomyopathy, Ascites, Hydrops fetalis ORPHA:295
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Polycystic Kidney Disease 7
Hypertension OMIM:620056
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Elevated circulating creatine kinase concentration, Ankle flexion contracture, ... OMIM:608099
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... OMIM:608751
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... OMIM:618920
Apparent Mineralocorticoid Excess
Hypertension, Hypokalemia, Stroke, Abnormality of circulating cortisol level, Left ventricular hy... ORPHA:320
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Cardiac shunt, Maternal diabetes, Cardiomegaly, Tachypnea, A... ORPHA:860
Immunodeficiency 108 With Autoinflammation
Hyposegmentation of neutrophil nuclei, Epistaxis, Impaired neutrophil chemotaxis OMIM:260570
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... ORPHA:91387
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Tachypnea, Atrioventricular block, Right ventricular dilatat... ORPHA:99106
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal heart valve morphology, Abnormal coronary artery morphology, Ao... ORPHA:3400
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Cardiomyopathy, Familial Restrictive, 6
Tricuspid regurgitation, Hydrops fetalis, Ascites, Pulmonic stenosis, Restrictive cardiomyopathy,... OMIM:619433
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ... ORPHA:99103
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Right ventricular dilatation, Unroofed coronary sinus, Anomalous pulmonary v... ORPHA:99104
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh... ORPHA:1345
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Elevated circulating creatine kinase concentration, Congestive heart failure, Quadriceps muscle w... ORPHA:206546
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... ORPHA:251274
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, Conges... OMIM:602390
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... ORPHA:1457
Nail-Patella-Like Renal Disease
Hypertension ORPHA:2613
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... OMIM:615703
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... ORPHA:90793
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Muscle fiber hyaline bodies, Elevated circulating creatine kinase concentra... OMIM:255160
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:605115
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Familial Cerebral Saccular Aneurysm
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... ORPHA:231160
Indomethacin Embryofetopathy
Cardiomyopathy, Premature birth, Hydrops fetalis, Oligohydramnios ORPHA:1909
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Polyhydramnios, Hydrops fetalis, Fetal pericardial effusion, Fetal pleural effusion OMIM:619462
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... OMIM:614980
Congenital Heart Block
Premature birth, First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Conges... ORPHA:60041
Cystic Hamartoma Of Lung And Kidney
Hypertension ORPHA:2111
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension ORPHA:2820
Congenital Myopathy 5 With Cardiomyopathy
Elevated circulating creatine kinase concentration, Sudden cardiac death, Centrally nucleated ske... OMIM:611705
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature pubarche, Premature thelarche, Isosexual precocio... ORPHA:90795
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Congenital Myopathy 8
Reduced vital capacity, Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive hea... OMIM:618654
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... ORPHA:404
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Focal Segmental Glomerulosclerosis 5
Hypertension OMIM:613237
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Coronary Artery Disease, Autosomal Dominant 2
Sudden cardiac death, Hypertension, Type II diabetes mellitus, Myocardial infarction OMIM:610947
Aortic Valve Disease 3
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... OMIM:618496
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Iga Nephropathy, Susceptibility To, 3
Hypertension OMIM:616818
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Ragged-red muscle fi... OMIM:540000
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Lacunar stroke, Hypertension, Transient ischemic attack OMIM:616779
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Neoplasm of the adrenal gland, ... ORPHA:231625
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... OMIM:601494
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hypertension OMIM:607832
Trimethylaminuria
Hypertension, Tachycardia OMIM:602079
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperaldosteronism, Increased circulating renin level, Hypotension OMIM:620125
Endocardial Fibroelastosis
Cryptorchidism, Congestive heart failure, Endocardial fibroelastosis, Restrictive cardiomyopathy,... ORPHA:2022
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Aortic Aneurysm, Familial Thoracic 9
Atrial fibrillation, Thoracic aortic aneurysm, Mitral valve prolapse, Ascending aortic dissection... OMIM:616166
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Elevated jugular venous pressure, Diabetes mellitus, Hypogonadotropic hypogonadism,... ORPHA:465508
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda... ORPHA:75566
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... OMIM:614473
Liddle Syndrome 2
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... OMIM:618114
Liddle Syndrome 3
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... OMIM:618126
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Hemochromatosis, Type 2B
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Cong... OMIM:613313
Atransferrinemia
Congestive heart failure OMIM:209300
Apparent Mineralocorticoid Excess
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... OMIM:218030
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Focal Segmental Glomerulosclerosis 2
Hypertension OMIM:603965
Attrv122I Amyloidosis
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... ORPHA:85451
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Reduced blood urea nitrogen, Elevated systolic blood pressure, Decreased serum crea... OMIM:300539
Liddle Syndrome 1
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... OMIM:177200
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Aortic Valve Disease 2
Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarc... OMIM:614823
Iga Nephropathy, Susceptibility To, 2
Hypertension OMIM:613944
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Abnormal circ... ORPHA:369929
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... ORPHA:90791
Aortic Aneurysm, Familial Thoracic 12
Aortic regurgitation, Bicuspid aortic valve, Spontaneous pneumothorax, Chronic pulmonary obstruct... OMIM:619825
Antithrombin Iii Deficiency
Arterial occlusion, Pulmonary embolism OMIM:613118
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... ORPHA:403
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Hydrops fetalis, Adrenal hypoplasia, Nonimmune hydrops fetalis, Polyhydramnios OMIM:613124
Chronic Thromboembolic Pulmonary Hypertension
Reduced vital capacity, Cardiac shunt, Elevated circulating C-reactive protein concentration, Pul... ORPHA:70591
Congenital Pulmonary Lymphangiectasia
Tricuspid regurgitation, Congestive heart failure, Hydrops fetalis, Chylopericardium, Pulmonic st... ORPHA:2414
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Decreased circulating renin ... OMIM:614492
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism, Hypotension OMIM:264350
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... OMIM:619326
Cardiomyopathy, Dilated, 2C
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy OMIM:618189
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, First degree atrioventricular block, Cardiomegaly, Atrioventricular block, ... OMIM:115197
Congenital Gerbode Defect
Crackles, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpholog... ORPHA:99095
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hyperaldosteronism, Increased circ... OMIM:177735
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Right ventricular dilatation, Restrictive ventilatory defect, Myopathy, Abnormal ci... ORPHA:369840
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Arterial Calcification, Generalized, Of Infancy, 1
Neonatal respiratory distress, Myocardial infarction, Cardiomegaly, Coronary artery calcification... OMIM:208000
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Cardiomegaly OMIM:300886
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Polyembryoma
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... ORPHA:180229
Functioning Gonadotropic Adenoma
Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu... ORPHA:91348
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... ORPHA:615
Hb Bart'S Hydrops Fetalis
Pericarditis, Polyhydramnios, Congestive heart failure, Hydrops fetalis, Oligohydramnios ORPHA:163596
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Fetal akinesia sequence, Dilated cardiomyopathy, Hydrops fetalis, Bradycardia, Hypertrophic cardi... OMIM:618815
Glomerulopathy With Fibronectin Deposits 2
Hypertension OMIM:601894
Aortic Aneurysm, Familial Thoracic 6
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... OMIM:611788
Ectopic Aldosterone-Producing Tumor
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertension, Hypokalemia, Adre... ORPHA:231632
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Increased circulating NT-p... ORPHA:57777
Maternally-Inherited Diabetes And Deafness
Congestive heart failure, Hypertension, Type II diabetes mellitus, Arrhythmia, Hypertrophic cardi... ORPHA:225
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertensi... ORPHA:231580
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Familial Cervical Artery Dissection
Diabetes mellitus, Transient ischemic attack, Carotid artery dissection, Subarachnoid hemorrhage,... ORPHA:36382
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Scapular winging, Descending aortic dissection, Bronchiectasis, Small thenar eminence, Ascending ... OMIM:620080
Congenital Left Ventricular Aneurysm
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Complete Atrioventricular Septal Defect
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Hyperhidr... ORPHA:1329
Renal Failure, Progressive, With Hypertension
Hypertension OMIM:161900
Pituicytoma
Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis... ORPHA:251623
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Butyrylcholinesterase Deficiency
Congestive heart failure, Myocardial infarction ORPHA:132
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:102200
Hyperaldosteronism, Familial, Type Iii
Hypertension, Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hyperalaninemia, Hepatomegaly, Apnea, Congestive heart failure, Bradycar... OMIM:619048
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Right ventricular dilata... OMIM:619705
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia OMIM:616198
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo... OMIM:615779
Hydrops Fetalis
Nonimmune hydrops fetalis, Polyhydramnios, Lymphedema, Pericardial effusion, Capillary leak, Asci... ORPHA:1041
Factor V Excess With Spontaneous Thrombosis
Peripheral arterial stenosis, Pulmonary embolism OMIM:134400
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocardi... ORPHA:3342
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... OMIM:115200
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Nuchal Bleb, Familial
Fetal cystic hygroma, Hydrops fetalis OMIM:257350
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Aortic Aneurysm, Familial Thoracic 7
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture OMIM:613780
Familial Bicuspid Aortic Valve
Aortic regurgitation, Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, He... ORPHA:402075
Moyamoya Disease With Early-Onset Achalasia
Raynaud phenomenon, Hypertension ORPHA:401945
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Orthopnea, Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, S... ORPHA:75249
Aortic Aneurysm, Familial Thoracic 8
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... OMIM:615436
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Abnormality of the amniotic fluid, Hypogonadism, Nonimmune hydrops fetalis OMIM:608540
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var... OMIM:614096
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal jugular vein morphology, Increased pulmonary vascular resistanc... ORPHA:275766
Lessel-Kubisch Syndrome
Hypertension, Hypogonadism OMIM:618681
Premature Ovarian Failure 16
Elevated circulating follicle stimulating hormone level, Premature ovarian insufficiency, Decreas... OMIM:618723
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:66628
Premature Ovarian Failure 17
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... OMIM:619146
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:613743
Pparg-Related Familial Partial Lipodystrophy
Dysmenorrhea, Maternal diabetes, Prominent veins on trunk, Hepatomegaly, Calf muscle pseudohypert... ORPHA:79083
Complete Androgen Insensitivity Syndrome
Male infertility, Testicular neoplasm, Elevated circulating luteinizing hormone level, Bilateral ... ORPHA:99429
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Increased circulati... OMIM:235200
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vascular... ORPHA:3287
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... ORPHA:179494
Scimitar Syndrome
Respiratory distress, Heart block, Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Coug... ORPHA:185
Glycogen Storage Disease Iv
Decreased fetal movement, Polyhydramnios, Portal hypertension, Edema, Hydrops fetalis, Cardiomyop... OMIM:232500
Mitochondrial Complex I Deficiency, Nuclear Type 30
Congestive heart failure OMIM:301021
Pseudohypoaldosteronism, Type Iia
Hypertension OMIM:145260
Igg4-Related Aortitis
Thoracic aortic aneurysm, Elevated circulating C-reactive protein concentration, Asthma, Abnormal... ORPHA:449400
Aortic Arch Interruption
Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Aortopulmonary wind... ORPHA:2299
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu... ORPHA:99050
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Congenital adrenal hyperplasia, Adrenogenita... OMIM:202010
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Hypoventilation, Calf muscle pseudohypertrophy, Elevated circulating creatine kinas... OMIM:310200
Aortic Aneurysm, Familial Thoracic 10
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... OMIM:617168
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Primary amen... OMIM:616030
Liddle Syndrome
Hypertension, Arrhythmia, Cerebral ischemia ORPHA:526
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation, Restrictive ventilatory defect, Limb-girdle muscular dystrophy, Myo... ORPHA:369847
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Peripheral arteriovenous fistula, Pulmonary embolism, ... ORPHA:90308
Polycystic Kidney Disease 5
Hypertension OMIM:617610
46,Xx Sex Reversal 5
Increased serum testosterone level OMIM:618901
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... ORPHA:439
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Sandhoff Disease
Splenomegaly, Congestive heart failure, Hepatomegaly ORPHA:796
Giant Cell Arteritis
Pericarditis, Diabetes insipidus, Epistaxis, Sudden cardiac death, Cough, Vasculitis, Hyperhidros... ORPHA:397
Fibronectin Glomerulopathy
Hypertension, Cerebral hemorrhage, Pedal edema ORPHA:84090
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysma... ORPHA:49827
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Intermittent... ORPHA:324604
Mass Syndrome
Aortic aneurysm, Ascending aortic dissection, Mitral valve prolapse OMIM:604308
Focal Segmental Glomerulosclerosis 1
Hypertension, Pleural effusion, Ascites, Edema OMIM:603278
Combined Oxidative Phosphorylation Deficiency 17
Congestive heart failure, Hypertrophic cardiomyopathy OMIM:615440
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level OMIM:619406
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Muscle fiber atrophy, Decreased muscle mass, Congestive heart failure, Recurrent pneumonia, Elbow... ORPHA:1900
Familial Dyskinesia And Facial Myokymia
Congestive heart failure, Dilated cardiomyopathy, Limb hypertonia, Facial myokymia ORPHA:324588
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Prolonged QTc interval, Hyp... ORPHA:90065
Glomerulopathy With Fibronectin Deposits 1
Hypertension OMIM:137950
Iga Nephropathy, Susceptibility To, 1
Hypertension OMIM:161950
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Primary amenorrhea, Hypop... OMIM:618841
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Partial absence ... OMIM:618986
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Familial Cutaneous Collagenoma
Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy ORPHA:53296
Familial Partial Lipodystrophy, Köbberling Type
Hypertension, Diabetes mellitus, Hyperinsulinemia ORPHA:79084
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Increased serum pyruvate, Congestive heart failure, Dyspnea, Dilated cardiomyopathy, Ragged-red m... ORPHA:1349
Ovarian Fibrothecoma
Metrorrhagia, Abnormal circulating hormone concentration, Increased serum testosterone level ORPHA:314478
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... OMIM:614839
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... ORPHA:95459
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Pulmonary embolism ORPHA:82
Transaldolase Deficiency
Hydrops fetalis, Edema, Telangiectasia ORPHA:101028
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Plantar telangiectasia, Predominantly lower limb lymphedema, Palpebral edema, Hydrops fetalis, Pa... ORPHA:69735
Cocaine Intoxication
Respiratory distress, Prolonged QRS complex, Elevated circulating creatine kinase concentration, ... ORPHA:90068
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Respiratory distress, Tricuspid regurgitation, Patent ductus arteri... OMIM:612863
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Nonproductive cough, Atrial septal defect, Pat... ORPHA:980
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Loeys-Dietz Syndrome 4
Torticollis, Bicuspid aortic valve, Arterial tortuosity, Pneumothorax, Mitral valve prolapse, Asc... OMIM:614816
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... ORPHA:99094
Grange Syndrome
Aortic regurgitation, Hypertension ORPHA:79094
Amyloidosis, Familial Visceral
Hypertension, Edema OMIM:105200
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... OMIM:619371
Desminopathy
Supraventricular arrhythmia, Sudden cardiac death, Respiratory insufficiency due to muscle weakne... ORPHA:98909
Combined Oxidative Phosphorylation Deficiency 28
Increased serum pyruvate, Congestive heart failure, Respiratory failure, Ragged-red muscle fibers OMIM:616794
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Myositis, Scapular winging, Elevated circulating creatine kinase concent... ORPHA:206569
Plin1-Related Familial Partial Lipodystrophy
Hypertension, Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Abnormal circulat... ORPHA:280356
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Decreased circ... OMIM:610600
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E... ORPHA:556037
Infantile Sialic Acid Storage Disease
Congestive heart failure, Ascites, Premature birth, Hydrops fetalis OMIM:269920
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Hypertension, Abnormal aortic morphology, Hyperuricemia, Arrhythmia ORPHA:3222
Carnitine Deficiency, Systemic Primary
Respiratory distress, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomeg... OMIM:212140
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Pulmonary Hypertension, Primary, 5
Angina pectoris, Right ventricular failure, Exertional dyspnea, Syncope, Pulmonary arterial hyper... OMIM:265400
Preeclampsia
Elevated diastolic blood pressure, Hypertension, Elevated systolic blood pressure, Type I diabete... ORPHA:275555
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Cryptorchidism, Arterial stenosis, Cerebral artery atherosclerosis, Hypertension, Type I diabetes... ORPHA:1192
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... ORPHA:280679
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Accelerated atherosclerosis, Angina pectoris, Congestive heart failu... OMIM:264800
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension, Polyhydramnios, Dehydration OMIM:616069
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... OMIM:314400
Partial Androgen Insensitivity Syndrome
Male infertility, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Incre... ORPHA:90797
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Nonimmune hydrops fetalis, Pulmonary arterial hypertension OMIM:619003
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Hypertrophic ca... OMIM:618234
Naxos Disease
Sudden cardiac death, Congestive heart failure, Hyperhidrosis, Cardiomyopathy, Paroxysmal ventric... ORPHA:34217
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E... ORPHA:556030
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm OMIM:617349
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy, Myopathy ORPHA:91130
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension OMIM:600666
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163976
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Secondary... OMIM:228300
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Elevated circulating creatine kinase con... ORPHA:732
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Cryptorchidism, Effort-induced polymorphic vent... ORPHA:3282
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Abnormal ovarian physiology, Premature adrenarche, Hypogona... ORPHA:90794
Lipodystrophy, Familial Partial, Type 5
Hypertension, Diabetic ketoacidosis, Decreased adiponectin level, Decreased serum leptin OMIM:615238
Congenital Enterovirus Infection
Decreased fetal movement, Premature birth, Polyhydramnios, Fetal ascites, Pericardial effusion, M... ORPHA:292
Combined Oxidative Phosphorylation Deficiency 22
Hyperalaninemia, Congestive heart failure, Pulmonary arterial hypertension OMIM:616045
Autosomal Recessive Spastic Paraplegia Type 26
Skeletal muscle atrophy, Decreased serum testosterone concentration, Premature ovarian insufficiency ORPHA:101006
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased circulating luteinizing hormone level, Decreased ci... OMIM:614897
Primary Triglyceride Deposit Cardiomyovasculopathy
Elevated circulating creatine kinase concentration, Increased muscle lipid content, Abnormal card... ORPHA:565612
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Gonadoblastoma
Increased serum testosterone level ORPHA:206484
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Dysmenorrhea, Congestive heart failure, Sp... ORPHA:2348
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Hepatomegaly, Neonatal respiratory distress, Respiratory distress, Exocrine ... OMIM:260400
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
Denys-Drash Syndrome
Hypertension ORPHA:220
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Decreased circulating gonadotr... OMIM:614841
Adenohypophysitis
Hyponatremia, Decreased circulating cortisol level, Decreased female libido, Orthostatic hypotens... ORPHA:95512
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... ORPHA:444013
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Hepatomegaly, Abnormal pulmonary valve morphology, Camptodactyly of finger, Cryptorchidism, Conge... ORPHA:1194
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Hyperkalemia, Increased circulating renin level, Hypotension, Decreased circulating... OMIM:203400
Extracranial Carotid Artery Aneurysm
Diabetes mellitus, Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Upper lim... ORPHA:494424
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... ORPHA:95513
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Pneumonia, Cardiomegaly, Patent foramen ovale, ... OMIM:601005
47,Xyy Syndrome
Male infertility, Cryptorchidism, Increased circulating gonadotropin level, Oligozoospermia, Azoo... ORPHA:8
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Nonimmune hydrops fetalis, Fetal pericardial effusion, Hypertension, Second degree atrioventricul... OMIM:617021
Glutaric Aciduria Iii
Hypertension, Hyperthyroidism, Goiter OMIM:231690
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Cryptorchidism, Conges... OMIM:610198
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Epistaxis, Cerebral arteriovenous malformation, Pulmonary arteriovenous malformation, Telangiecta... OMIM:175050
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Skeletal muscle atrophy, Streak ovary, Increased circulating gonadotropin level, Testicular dysge... ORPHA:168563
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperaldosteronism, Increased circulating renin level OMIM:620126
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Hypogonadotropic hypogonadism, Anomalous origin of left coronary artery fro... ORPHA:2326
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Extraadrenal pheochromocytoma, Glomus jugular tumor, Adrenal pheochromocytoma, Chemo... OMIM:605373
Moyamoya Disease 6 With Or Without Achalasia
Raynaud phenomenon, Hypertension, Ischemic stroke OMIM:615750
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Wheezing, Hyperkalemia, Hypo... ORPHA:171876
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Congestive heart failure, Vent... OMIM:301500
Multisystemic Smooth Muscle Dysfunction Syndrome
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Cryptorchidism, ... OMIM:613834
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Congest... OMIM:275000
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia OMIM:606703
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Primary Membranoproliferative Glomerulonephritis
Hypertension, Myocardial infarction ORPHA:54370
Coproporphyria, Hereditary
Splenomegaly, Hypertension, Tachycardia, Hepatomegaly OMIM:121300
Polyendocrine-Polyneuropathy Syndrome
Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Central ... ORPHA:453533
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Congestive heart failure, Flexion contracture, Respiratory insufficiency... ORPHA:157973
Pseudohypoaldosteronism Type 2
Hypertension ORPHA:757
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Pseudohypoaldosteronism, Type Iib
Hypertension OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension OMIM:614495
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Decreased serum testoster... OMIM:300869
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163971
Craniofaciofrontodigital Syndrome
Respiratory distress, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly,... ORPHA:363705
Corticosteroid-Binding Globulin Deficiency
Hypertension, Decreased circulating cortisol level, Hypotension OMIM:611489
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Primary testicula... OMIM:115250
Maternal Uniparental Disomy Of Chromosome 6
Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level ORPHA:96181
Stuve-Wiedemann Syndrome 2
Respiratory distress, Congestive heart failure, Pulmonary arterial hypertension, Camptodactyly OMIM:619751
Congenital Generalized Lipodystrophy
Hepatomegaly, Prominent superficial veins, Diabetes mellitus, Precocious puberty in females, Hype... ORPHA:528
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Hepatomegaly, Skeletal muscle atrophy, Portal hypertension, Congestive hear... ORPHA:367
Tako-Tsubo Cardiomyopathy
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly elevated creatine kinase, Mil... ORPHA:66529
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Absence of pubertal development, Primary amenorrh... OMIM:273250
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... ORPHA:95619
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas... OMIM:615954
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Neonatal respiratory distress, Spinal muscular atrophy, Secundum atrial septal defect, Congestive... OMIM:616866
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis OMIM:619340
X-Linked Hypohidrotic Ectodermal Dysplasia
Type I diabetes mellitus, Hypertension, Anterior hypopituitarism ORPHA:181
Lipodystrophy, Familial Partial, Type 4
Hypertension, Insulin-resistant diabetes mellitus OMIM:613877
Moyamoya Disease 1
Inflammatory arteriopathy, Telangiectasia OMIM:252350
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Congestive heart failure, Stroke-like episode, Abnormal heart morphology, Respiratory failure, Hy... ORPHA:70472
Potocki-Shaffer Syndrome
Hypertension, Hypothyroidism, Delayed puberty ORPHA:52022
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... ORPHA:1330
Ovarian Hyperstimulation Syndrome
Increased circulating gonadotropin level, Hypovolemia, Increased serum testosterone level, Capill... ORPHA:64739
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary venous occlusion, Pulmonary arterial hypertension, Elevated jugular venous pressure, Ab... OMIM:265450
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, Elevated circulating growth hor... ORPHA:562
Premature Ovarian Failure 14
Decreased serum estradiol, Primary amenorrhea, Elevated circulating follicle stimulating hormone ... OMIM:618014
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Cardiomegaly ORPHA:88643
Generalized Arterial Calcification Of Infancy
Respiratory distress, Medial calcification of large arteries, Adrenal calcification, Cardiomegaly... ORPHA:51608
Cednik Syndrome
Congestive heart failure, Stroke, Hypogonadism ORPHA:66631
Combined Oxidative Phosphorylation Deficiency 57
Nonimmune hydrops fetalis, Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Nephrog... OMIM:620167
Ane Syndrome
Decreased serum insulin-like growth factor 1, Multiple joint contractures, Hypogonadotropic hypog... ORPHA:157954
Alstrom Syndrome
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Hypergonadotropic hy... OMIM:203800
Tricuspid Atresia
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... ORPHA:1209
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Elevated circulating phytanic acid concentration, Limb mu... OMIM:266500
Spastic Paraplegia 26, Autosomal Recessive
Upper limb muscle weakness, Decreased serum testosterone concentration, Lower limb muscle weaknes... OMIM:609195
Cryoglobulinemia, Familial Mixed
Hypertension, Anasarca OMIM:123550
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Varicose veins, Pulmonic stenosis, Camptodactyly, Vascular dilatation OMIM:618343
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly ORPHA:85447
Lymphatic Malformation 12
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Fetal pericardial effusion,... OMIM:620014
Mulibrey Nanism
Congestive heart failure, Ascites, Hydrops fetalis OMIM:253250
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Flexion contracture, Elevated circulating creatinine concentration, Hyperte... OMIM:616733
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Tachycardia, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, ... OMIM:168000
Müllerian Aplasia And Hyperandrogenism
Primary amenorrhea, Increased serum testosterone level ORPHA:247768
Mitochondrial Trifunctional Protein Deficiency 1
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... OMIM:609015
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hydrops fetalis, Polyhydramnios ORPHA:2204
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Pheochromocyto... OMIM:171420
Non-Involuting Congenital Hemangioma
Congestive heart failure, Prominent superficial veins, Peripheral arteriovenous fistula, Telangie... ORPHA:141179
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Oligohydramnios, Atrial flutter, Hydrops fetalis, Lymphedema OMIM:601927
Aapoaiv Amyloidosis
Atrial flutter, Diabetes mellitus, Abnormal cardiac ventricular function, Atrial fibrillation, Ca... ORPHA:439232
Ganglioneuroma
Gastrointestinal hemorrhage, Hypertension, Abnormality of the adrenal glands, Neoplasm of the adr... ORPHA:251992
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Dysmenorrhea, Precocious at... ORPHA:280365
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... OMIM:600649
Dietary Iron Overload Disease
Hepatomegaly, Diabetes mellitus, Increased circulating ferritin concentration, Abnormal thyroid m... ORPHA:139507
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Dk1-Cdg
Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac... ORPHA:91131
Gaisböck Syndrome
Diabetes mellitus, Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Splenomegaly, Dy... ORPHA:90041
Postorgasmic Illness Syndrome
Hypertension, Xerostomia, Palpitations ORPHA:279947
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Dyspnea, Cough, Decreased DLCO, Pulmonary arterial hypertension OMIM:234810
Combined Oxidative Phosphorylation Deficiency 42
Cardiomyopathy, Decreased circulating cortisol level, Premature birth, Nonimmune hydrops fetalis OMIM:618839
Coarctation Of Aorta
Hypoplastic left heart, Coarctation of aorta OMIM:120000
49,Xxxyy Syndrome
Abnormality of the testis size, Increased circulating gonadotropin level, Primary gonadal insuffi... ORPHA:261534
Erythrocytosis, Familial, 1
Hypertension, Cerebral hemorrhage, Myocardial infarction OMIM:133100
Neuraminidase Deficiency
Facial edema, Cardiomyopathy, Ascites, Hydrops fetalis OMIM:256550
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema OMIM:618773
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Facial hy... ORPHA:308552
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Congest... ORPHA:52430
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy, Decreased circulating cortisol level, Premature birth, Nonimmune hyd... OMIM:618835
Senior-Loken Syndrome
Hypertension ORPHA:3156
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Sinusitis, Pneumonia, Facial palsy, Abnormality of the adrenal glands, Arrhy... ORPHA:68
Catastrophic Antiphospholipid Syndrome
Abnormal heart valve morphology, Angina pectoris, Myocardial infarction, Pulmonary embolism, Tran... ORPHA:464343
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Acute pancreatitis, Skeletal muscle atrophy, Scapular winging, Elevated circulating... ORPHA:26791
Sneddon Syndrome
Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Hypertension, Stroke, Ischemic stroke OMIM:182410
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive azoospermia, Cryptorchidism, ... ORPHA:432
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Elevated circulating acylcarnitine concentration, Congestive heart failure,... ORPHA:99901
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Respirator... ORPHA:746
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Hypercalcemia, Cerebral hemorrhage, Episodic hyperhidrosis, Conge... ORPHA:94080
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Congestive heart failu... ORPHA:363618
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Congestive heart failure, Dyspnea, Heart murmur, Stroke, Bacterial endocard... ORPHA:1054
Pseudohypoaldosteronism, Type Iie
Hypertension, Pseudohypoaldosteronism OMIM:614496
Sneddon Syndrome
Intracranial hemorrhage, Hypertension ORPHA:820
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Shortened... OMIM:261740
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hypertension, Mitral regurgitation OMIM:173900
Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Hypovolemia, Adrenal insufficiency, Increase... ORPHA:427
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly, Hyperprolinemia, Pulmonary arterial hypertension, Hyperalaninemia OMIM:619064
Rapidly Involuting Congenital Hemangioma
Congestive heart failure, Prominent superficial veins, Peripheral arteriovenous fistula, Telangie... ORPHA:141184
Achondrogenesis, Type Ib
Breech presentation, Polyhydramnios, Hydrops fetalis, Edema OMIM:600972
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... OMIM:613795
49,Xyyyy Syndrome
Abnormality of the testis size, Increased circulating gonadotropin level, Azoospermia, Primary go... ORPHA:99330
Abdominal Obesity-Metabolic Syndrome 4
Hypertension, Type II diabetes mellitus, Myocardial infarction OMIM:618620
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Decreased muscle mass, Facial hypotonia, Congestive heart failure, Atrial septal defect, Diabetes... ORPHA:500533
Diffuse Neonatal Hemangiomatosis
Ascites, Premature birth, Hydrops fetalis, Polyhydramnios ORPHA:2123
Chondrodysplasia, Blomstrand Type
Fetal ascites, Premature birth, Hydrops fetalis, Polyhydramnios OMIM:215045
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Hyperammonemia, Pulmonary arteria... OMIM:619051
Lipodystrophy, Familial Partial, Type 1
Hypertension, Insulin-resistant diabetes mellitus OMIM:608600
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Seckel Syndrome 10
Ventricular hypertrophy, Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Elevated he... OMIM:617253
Central Hypoventilation Syndrome, Congenital, 3
Episodic hypertension OMIM:619483
Acute Adrenal Insufficiency
Hyponatremia, Decreased circulating cortisol level, Decreased female libido, Orthostatic hypotens... ORPHA:95409
Ciliary Dyskinesia, Primary, 40
Reduced forced expiratory volume in one second, Situs inversus totalis, Reduced respiratory cilia... OMIM:618300
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility OMIM:266265
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Adrenocorticotropic ho... ORPHA:91354
Polyarteritis Nodosa
Pericarditis, Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Cardiomy... ORPHA:767
Fetal Gaucher Disease
Intracranial hemorrhage, Decreased fetal movement, Hydrops fetalis, Fetal akinesia sequence ORPHA:85212
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Thyroid C cell hyperplasia, Hypertension, Increased circulating cortisol lev... OMIM:171400
Atrial Septal Defect 9
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve OMIM:614475
Alg9-Cdg
Hepatomegaly, Torticollis, Tricuspid regurgitation, Ventricular septal defect, Hypoplasia of the ... ORPHA:79328
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308700
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:612336
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Capillary Malformation-Arteriovenous Malformation
Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformation, Abnormality of ... ORPHA:137667
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Atrial fibrillation, Arterial dissection, Camptodactyly of finger, Arterial... ORPHA:284984
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:610168
Marfan Syndrome
Aortic regurgitation, Decreased muscle mass, Tricuspid regurgitation, Bicuspid aortic valve, Cong... OMIM:154700
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hypertension OMIM:618061
Paroxysmal Hemicrania
Hypertension, Diabetes mellitus, Palpebral edema ORPHA:157835
Cutis Marmorata Telangiectatica Congenita
Hypertension, Telangiectasia OMIM:219250
Babesiosis
Hepatomegaly, Myocardial infarction, Congestive heart failure, Splenomegaly, Respiratory insuffic... ORPHA:108
Progeria-Short Stature-Pigmented Nevi Syndrome
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Multiple joint contractures, Sup... ORPHA:2959
Total Anomalous Pulmonary Venous Return 1
Pulmonary arterial hypertension, Total anomalous pulmonary venous return, Dextrocardia OMIM:106700
American Trypanosomiasis
Hepatomegaly, Myocarditis, Congestive heart failure, Splenomegaly, Dyspnea, Cardiomyopathy, Cough... ORPHA:3386
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Nonimmune hydrops fetalis, Predominantly lower limb lymphedema, Palmar telangiectasia, Palpebral ... OMIM:607823
Pseudo-Torch Syndrome 3
Apnea, Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentration, Respirato... OMIM:618886
Sialidosis Type 2
Ascites, Hydrops fetalis, Pedal edema ORPHA:87876
Sengers Syndrome
Premature ovarian insufficiency, Cardiac arrest, Sudden cardiac death, Respiratory insufficiency,... OMIM:212350
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Diabetes mellitus, Elevated circulating creatine kinase concentration, H... OMIM:615980
Homozygous Familial Hypercholesterolemia
Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A... ORPHA:391665
Rabson-Mendenhall Syndrome
Increased pineal volume, Precocious puberty, Insulin-resistant diabetes mellitus, Fasting hyperin... ORPHA:769
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... OMIM:616185
Wild Type Attr Amyloidosis
Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Pleural effusion, Br... ORPHA:330001
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Congenital diaphragmatic hernia, Atrial septal defect, Pulmonary arteria... OMIM:300887
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Primary amenorrhea, Secondary amenorrhea, Decreased ... OMIM:620311
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Tachypnea, Reduced left ... OMIM:616501
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Congestive heart failure, Abnormal tendon morphology, Macroglossia, ... ORPHA:85446
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Increased circul... ORPHA:289548
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Congestive heart failure, Tachycardia ORPHA:90037
Maternal Uniparental Disomy Of Chromosome X
Camptodactyly of finger, Congestive heart failure, Flexion contracture, Azoospermia, Primary gona... ORPHA:261519
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Respiratory insufficiency, Coarctat... OMIM:601612
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction