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Gene: Npr1 MGI:97371

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, Interphala... OMIM:613870
Achondrogenesis
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:932
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Increased circulating renin level, Decr... ORPHA:168558
Overlap Myositis
Proximal muscle weakness in upper limbs, Diabetes mellitus, Elevated circulating creatine kinase ... ORPHA:206572
Nephronophthisis 18
Hypertension OMIM:615862
Bartter Syndrome, Type 3
Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating renin level, Hypo... OMIM:607364
Cln3 Disease
T-wave inversion, Bradycardia, Increased circulating androgen concentration ORPHA:228346
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... OMIM:201750
Meningioma
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... ORPHA:2495
Familial Idiopathic Dilatation Of The Right Atrium
Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys... ORPHA:1677
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Marfan Syndrome
Skeletal muscle atrophy, Mitral valve calcification, Spontaneous pneumothorax, Congestive heart f... ORPHA:558
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Hydrops fetalis, Pleural effusion, Single umbilical artery, Hypertrophic cardiomy... OMIM:616897
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Prolonged QRS complex, Decreased response to growth hormone stimulation ... ORPHA:273
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Hypertension, Increased circulating cortisol level, Prima... OMIM:615830
Hyperkalemic Periodic Paralysis
Hyponatremia, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Conges... ORPHA:682
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Boomerang Dysplasia
Decreased response to growth hormone stimulation test, Hydrops fetalis, Polyhydramnios ORPHA:1263
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium mo... ORPHA:183
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Increased circulating NT-proB... OMIM:232300
Osteogenesis Imperfecta, Type Ii
Congestive heart failure, Pulmonary insufficiency, Premature birth, Nonimmune hydrops fetalis OMIM:166210
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased serum estradiol, El... OMIM:618117
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Pulmonary Arteriovenous Malformation
Transient ischemic attack, Epistaxis, Myocardial infarction, Cough, Dyspnea, Heart murmur, Telang... ORPHA:2038
Leydig Cell Hypoplasia
Hypergonadotropic hypogonadism, Female hypogonadism, Cryptorchidism, Testicular gonadoblastoma, I... ORPHA:755
Mitochondrial Complex I Deficiency, Nuclear Type 20
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Stroke OMIM:611126
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Congenital Aortic Valve Stenosis
Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Aortic valve calcification, Aort... ORPHA:3093
Renal Hypodysplasia/Aplasia 1
Hypertension, Oligohydramnios, Anhydramnios OMIM:191830
Bronchial Neuroendocrine Tumor
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Elevated circula... ORPHA:97287
Turner Syndrome Due To Structural X Chromosome Anomalies
Bicuspid aortic valve, Myocardial infarction, Atrial septal defect, Hashimoto thyroiditis, Premat... ORPHA:99413
Mosaic Monosomy X
Bicuspid aortic valve, Myocardial infarction, Atrial septal defect, Hashimoto thyroiditis, Premat... ORPHA:99228
Monosomy X
Bicuspid aortic valve, Myocardial infarction, Atrial septal defect, Hashimoto thyroiditis, Premat... ORPHA:99226
Turner Syndrome
Bicuspid aortic valve, Myocardial infarction, Atrial septal defect, Hashimoto thyroiditis, Premat... ORPHA:881
Combined Oxidative Phosphorylation Deficiency 20
Hyperalaninemia, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Respiratory insuffi... OMIM:615917
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Respiratory insuffici... ORPHA:1166
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Cardio... ORPHA:555874
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology, Pulmonary embolism ORPHA:745
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Increased serum pyruvate, Elevated circulating dodecanoylcarnitine concentration, Elevated circul... OMIM:619355
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Hypertens... ORPHA:347
Achondrogenesis Type 1B
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:93298
Avian Influenza
Respiratory distress, Elevated circulating creatine kinase concentration, Elevated circulating C-... ORPHA:454836
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... ORPHA:95430
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertension, Increased circulatin... OMIM:219080
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypertension, Hyperaldosteronism, Increased circulating renin level OMIM:612780
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hyp... ORPHA:73224
Alg6-Cdg
Puberty and gonadal disorders, Increased circulating androgen concentration ORPHA:79320
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Loeys-Dietz Syndrome 5
Decreased muscle mass, Scapular winging, Ventricular septal defect, Mitral regurgitation, Aortic ... OMIM:615582
Achondrogenesis Type 1A
Thickened nuchal skin fold, Hydrops fetalis, Polyhydramnios ORPHA:93299
Familial Pseudohyperkalemia
Hypertension ORPHA:90044
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... OMIM:615812
Pediatric-Onset Graves Disease
Hepatomegaly, Atrial fibrillation, Puberty and gonadal disorders, Congestive heart failure, Thyro... ORPHA:525731
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Cryptorchidism, Patent ductus arteriosus, Tachypnea, H... OMIM:614857
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... OMIM:619472
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Cardiac myxoma, Pituitary adenoma, Congestive ... OMIM:160980
45,X/46,Xy Mixed Gonadal Dysgenesis
Male infertility, Prolonged QT interval, Tachycardia, Streak ovary, Bicuspid aortic valve, Unilat... ORPHA:1772
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Hyperte... ORPHA:77296
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Emphysema, Chronic pulm... ORPHA:324
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Diabetes mellitus, Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracrania... ORPHA:136
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small hypothenar eminence, Streak ovary, Hypergonadotropic hypogonadism, Thenar muscle atrophy, N... ORPHA:2232
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Hypertension, Type II d... OMIM:604367
Addison Disease
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Increased circul... ORPHA:85138
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat... OMIM:300280
Weill-Marchesani Syndrome 2
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Elbow flexion cont... OMIM:608328
Congenital Myopathy 1B, Autosomal Recessive
Decreased fetal movement, Hydrops fetalis, Polyhydramnios OMIM:255320
Systemic Lupus Erythematosus 17
Raynaud phenomenon, Mitral regurgitation, Hypertensive crisis OMIM:301080
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Female infertility, Rhinorrhea, Situs inversus totalis, Wheezing, Bronchiectasis, R... OMIM:617577
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular failure, Dyspnea, Hypoxemia,... ORPHA:199241
Pheochromocytoma
Tachycardia, Hypercalcemia, Cerebral hemorrhage, Congestive heart failure, Hyperhidrosis, Episodi... OMIM:171300
Combined Oxidative Phosphorylation Defect Type 27
Nonimmune hydrops fetalis ORPHA:477774
Obesity Due To Sim1 Deficiency
Postural hypotension with compensatory tachycardia, Hyperinsulinemia, Hypotension ORPHA:369873
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Decreased serum insulin-like growth factor 1, Tachycardia, Ventricular septal defec... OMIM:614921
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Single umbilical artery, Hydrops fetalis, Polyhydramnios ORPHA:3405
East Syndrome
Hyperaldosteronism, Increased circulating renin level ORPHA:199343
Idiopathic Non-Lupus Full-House Nephropathy
Hypertension ORPHA:567544
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Increased intramy... OMIM:617228
Colchicine Poisoning
Hyponatremia, Respiratory distress, Myocarditis, Congestive heart failure, Hypovolemia, Abnormal ... ORPHA:31824
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Malignant Hyperthermia Of Anesthesia
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Hypercapnia, High-output congestive heart ... ORPHA:423
Nephronophthisis 2
Situs inversus totalis, Elevated circulating creatinine concentration, Hyperkalemia, Respiratory ... OMIM:602088
Gitelman Syndrome
Maternal diabetes, Hyperhidrosis, Prominent U wave, Abnormal T-wave, Hashimoto thyroiditis, Rayna... ORPHA:358
Neutral Lipid Storage Myopathy
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Chronic pancreatitis, Hand muscle weakness... ORPHA:98908
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Pericardial effusion, Restrictive cardiomyopathy, Hypoplasia of the thymus, Nonimmune hydrops fet... OMIM:619313
Diffuse Cutaneous Systemic Sclerosis
Dyspareunia, Telangiectasia of the skin, Congestive heart failure, Dyspnea, Flexion contracture, ... ORPHA:220393
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration... OMIM:201475
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... OMIM:302060
Gm1-Gangliosidosis, Type I
Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Dilated ca... OMIM:230500
Stiff Skin Syndrome
Hypertension, Type II diabetes mellitus ORPHA:2833
Meester-Loeys Syndrome
Mitral valve prolapse, Ascending tubular aorta aneurysm, Dilatation of the cerebral artery, Aorti... OMIM:300989
Hypocalcemia, Autosomal Dominant 1
Decreased circulating parathyroid hormone level, Hypokalemia, Hyperphosphatemia, Increased circul... OMIM:601198
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Productive cough, Situs inversus ... OMIM:615067
Riboflavin Transporter Deficiency
Hypertension, Hypogonadism, Diabetes insipidus ORPHA:97229
Coach Syndrome 2
Hypertension OMIM:619111
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypergonadotropic hypogonadism, Dysmenorrhea, Elevated circulating luteinizing hormone level, Dec... ORPHA:90796
Nephroblastoma
Hypertension ORPHA:654
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency, Abnormal cerebral vascular morphology, Pulmonary embolism ORPHA:743
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Pelvic girdle muscle atrophy, Elevated circulating luteinizing hormone level, Elevated circulatin... ORPHA:3044
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly, Decreased serum zinc, Hypogonadism, Decreased serum testosterone conc... OMIM:201100
Amoebiasis Due To Entamoeba Histolytica
Abnormal pericardium morphology, Congestive heart failure, Dyspnea, Hypoalbuminemia, Pleural empy... ORPHA:67
Pseudoxanthoma Elasticum
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of ... ORPHA:758
Insulin-Resistance Syndrome Type B
Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus, Fasting hyperinsu... ORPHA:2298
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Eisenmenger Syndrome
Respiratory distress, Elevated circulating C-reactive protein concentration, Ventricular tachycar... ORPHA:97214
Isolated Ectopia Lentis
Hypertension ORPHA:1885
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... ORPHA:3427
Hutchinson-Gilford Progeria Syndrome
Angina pectoris, Myocardial infarction, Precocious atherosclerosis, Congestive heart failure, Pre... OMIM:176670
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Paten... OMIM:618652
Atrial Septal Defect 4
Atrial septal defect, Patent foramen ovale, Coarctation of aorta OMIM:611363
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Crackles, Pericardial effusion, Nonproduct... ORPHA:79126
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Diabetes mellitus, Decreased serum iron, Flexion contracture, Abnormal heart morphology, Pulmonar... ORPHA:391372
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Tachypnea, Hypertension, Pulmonary arterial hypertension, Vascular dilatation OMIM:613320
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art... OMIM:609192
Hypoplastic Left Heart Syndrome
Mitral atresia, Maternal diabetes, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic... ORPHA:2248
Distal Duplication 14Q
Patent ductus arteriosus, Abnormal aortic morphology ORPHA:1705
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes... OMIM:241150
Monosomy 18Q
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Bilateral cry... ORPHA:1600
Double Outlet Right Ventricle
Hypoparathyroidism, Tachycardia, Ventricular septal defect, Tachypnea, Double outlet right ventri... ORPHA:3426
Telangiectasia, Hereditary Hemorrhagic, Type 5
Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia OMIM:615506
Familial Multiple Nevi Flammei
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar... ORPHA:624
Gaucher Disease, Type I
Hepatomegaly, Epistaxis, Splenomegaly, Dyspnea, Hypertension, Mitral regurgitation, Pulmonary art... OMIM:230800
Gitelman Syndrome
Prolonged QT interval, Rhabdomyolysis, Ventricular tachycardia, Hypokalemia, Increased circulatin... OMIM:263800
Galactosialidosis
Conjunctival telangiectasia, Nonimmune hydrops fetalis OMIM:256540
Woodhouse-Sakati Syndrome
Streak ovary, Premature ovarian insufficiency, Decreased response to growth hormone stimulation t... ORPHA:3464
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Mullerian Aplasia And Hyperandrogenism
Increased circulating dehydroepiandrosterone-sulfate concentration, Increased circulating androst... OMIM:158330
Werner Syndrome
Skeletal muscle atrophy, Telangiectasia of the skin, Myocardial infarction, Abnormal cerebral vas... ORPHA:902
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Trans... ORPHA:774
Hughes-Stovin Syndrome
Pulmonary embolism, Dyspnea, Vasculitis, Arterial stenosis, Cardiorespiratory arrest, Cough, Pulm... ORPHA:228116
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Pulmonary embolism, Hypothyroidism, Hypoalbuminemia, Budd-Chiari syndrome, Intestin... OMIM:226300
Rhabdoid Tumor
Hypertension, Internal hemorrhage ORPHA:69077
Diarrhea 1, Secretory Chloride, Congenital
Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating renin level OMIM:214700
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... ORPHA:99125
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Congestive heart failure, Neoplasm of the thyroid gland, Arteriovenous malf... ORPHA:137608
Schimke Immuno-Osseous Dysplasia
Transient ischemic attack, Abnormality of thyroid physiology, Congestive heart failure, Hyperlipi... ORPHA:1830
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hyperammonemia, Pleural effusion, Bradycardia, Hyperalaninemi... OMIM:614702
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac... OMIM:252011
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Telangiectasia of extensor surfaces, Faci... OMIM:137940
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Cerebral hemorrhage... ORPHA:276621
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension, Abnormal cerebral vascular morphology OMIM:152900
Robinow Syndrome
Ventricular septal defect, Cryptorchidism, Abnormal heart morphology, Coarctation of aorta, Pulmo... ORPHA:97360
Loeys-Dietz Syndrome
Cardiac arrest, Camptodactyly of finger, Arterial tortuosity, Patent ductus arteriosus, Aortic di... ORPHA:60030
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Diabetes mellitus, Congestive heart failure OMIM:229300
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Elevated circulating cre... ORPHA:268
Ochoa Syndrome
Hypertension ORPHA:2704
Vascular Ehlers-Danlos Syndrome
Internal hemorrhage, Peripheral arteriovenous fistula, Cryptorchidism, Respiratory insufficiency,... ORPHA:286
Prolactinoma
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Hypotension, Dela... ORPHA:2965
Meconium Aspiration Syndrome
Respiratory distress, Maternal diabetes, Neonatal asphyxia, Wheezing, Pneumothorax, Abnormal hear... ORPHA:70588
Lymphatic Malformation 1
Hyperkeratosis over edematous areas, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis OMIM:153100
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Congen... ORPHA:2519
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A... ORPHA:85450
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Medial calcification of large arteries, Abnormality of the endocrine system, Congestive heart fai... ORPHA:391487
Woodhouse-Sakati Syndrome
Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, Hypogonadotropic h... OMIM:241080
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Tachycardia, Tricuspid regurgitation, Congestive heart failure, Patent duct... ORPHA:505248
Ovarian Dysgenesis 5
Decreased serum estradiol, Primary amenorrhea, Elevated circulating follicle stimulating hormone ... OMIM:617690
Scorpion Envenomation
Bundle branch block, Increased circulating NT-proBNP concentration, Tachypnea, Hyperhidrosis, Pro... ORPHA:466677
Juvenile Paget Disease
Hypertension ORPHA:2801
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension OMIM:166300
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Premature birth, Nonimmune hydrops fetalis OMIM:618838
Stiff-Person Syndrome
Hypertension, Tachycardia, Diabetes mellitus OMIM:184850
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly OMIM:619259
Hemochromatosis, Neonatal
Nonimmune hydrops fetalis, Oligohydramnios OMIM:231100
Osteogenesis Imperfecta
Abnormal endocardium morphology, Aortic regurgitation, Neonatal respiratory distress, Cerebral he... ORPHA:666
Acquired Generalized Lipodystrophy
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Calf muscle pseudohypertrophy, Insulin-re... ORPHA:79086
Free Sialic Acid Storage Disease
Ascites, Hydrops fetalis ORPHA:834
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Elevated circulating... ORPHA:90060
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension, Elevat... OMIM:263400
Lymphatic Malformation 13
Nonimmune hydrops fetalis, Lymphedema, Fetal pericardial effusion, Mitral regurgitation, Single u... OMIM:620244
Alagille Syndrome 2
Hypertension, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Peripheral pulmonary ... OMIM:610205
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Hypertension, Pheochromocytoma, Adrenocortical adenoma,... ORPHA:139411
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Cardio... ORPHA:42
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Conges... OMIM:615895
Pancreatic insufficiency, combined exocrine
Congestive heart failure OMIM:260450
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Hyperinsulinemia, Hypertension, Respiratory failure, Myopathy ORPHA:363400
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Congestive heart failure, Stroke ORPHA:3077
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Reduced forced vital capacity, Z-band streaming, Coar... OMIM:619178
Antisynthetase Syndrome
Aortic regurgitation, Myositis, Telangiectasia of the skin, Elevated circulating creatine kinase ... ORPHA:81
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Hepatomegaly, Congestive heart failure, Patent ductus arteriosus, Splenomeg... OMIM:617303
Interstitial Lung Disease 2
Dyspnea, Cough, Decreased DLCO, Pulmonary arterial hypertension, Exertional dyspnea OMIM:178500
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Raynaud phenomenon, Congestive ... ORPHA:91139
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Palpebral edema, Edema, Pulmonary embolism, Facial edema, Pedal edema, Hypertension, Anasarca, Pl... ORPHA:567546
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... ORPHA:137675
Periodic Fever, Menstrual Cycle-Dependent
Increased circulating cortisol level OMIM:614674
Alg8-Cdg
Premature birth, Edema, Hydrops fetalis, Ascites, Oligohydramnios ORPHA:79325
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Periorbital edema,... OMIM:616843
Keutel Syndrome
Pulmonary arterial hypertension, Pulmonary artery stenosis, Ventricular septal defect, Recurrent ... ORPHA:85202
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiac arrest, Cardiomegaly, C... OMIM:617713
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Ventricular septal defect, Decreased response to growth hormone s... OMIM:601808
Cirrhosis, Familial
Hypertension, Ascites, Pulmonary arterial hypertension OMIM:215600
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyperalaninemia, Limb hy... OMIM:619170
Adams-Oliver Syndrome 5
Splenomegaly, Right atrial enlargement, Pulmonic stenosis, Pulmonary arterial hypertension, Paten... OMIM:616028
Ectodermal Dysplasia-Syndactyly Syndrome 2
Hyperhidrosis, Cardiomegaly OMIM:613576
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Congestive heart failure, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia OMIM:605676
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased serum estradiol, El... OMIM:618187
Pulmonary Hypertension, Primary, 4
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... OMIM:615344
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Epistaxis, Congestive heart failure, Vascul... ORPHA:727
Allergic Bronchopulmonary Aspergillosis
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema ORPHA:1164
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Dyspnea, Bronchiectasi... OMIM:123700
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Ventricular septal defect, Bicuspid aortic valve, Premature thelarche, Atrioventricular block, Mi... ORPHA:371428
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... OMIM:602782
Arteriosclerosis, Severe Juvenile
Hypertension, Myocardial infarction, Delayed puberty OMIM:208060
Say-Barber-Miller Syndrome
Transient hypogammaglobulinemia of infancy, Decreased circulating antibody level, Abnormal T cell... ORPHA:3132
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus,... ORPHA:210122
Congenital Isolated Acth Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropin deficient adrenal i... ORPHA:199296
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Asthma, Re... OMIM:309900
Pulmonary Alveolar Microlithiasis
Nonproductive cough, Tachypnea, Increased circulating surfactant protein level, Oxygen desaturati... ORPHA:60025
S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Hydrops fetalis ORPHA:88618
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Dextrocardia, Elevated circulating alpha-fetoprotein concentration, Situs inversus ... OMIM:613095
Hereditary Pheochromocytoma-Paraganglioma
Positive regitine blocking test, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, H... ORPHA:29072
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... ORPHA:392
Infant Botulism
Hypertension, Xerostomia, Cardiac arrest, Hypotension ORPHA:178478
Alpha-Thalassemia
Hydrops fetalis ORPHA:846
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Crackles, Diffuse alveolar hemorrhage, Cardiomegaly, Dyspnea, Heart murmur, Hepatos... ORPHA:99931
Gm1 Gangliosidosis
Congestive heart failure, Premature birth, Hydrops fetalis, Cardiomyopathy ORPHA:354
Monosomy 18P
Hypertension, Hypothyroidism, Lymphedema ORPHA:1598
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Tricuspid regurgitation, Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus ar... ORPHA:1120
C3 Glomerulopathy
Hypertension ORPHA:329918
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... OMIM:255120
46,Xy Partial Gonadal Dysgenesis
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing ... ORPHA:251510
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Pneumonia, Raynaud phenomenon, Elevated circulating creatinine conce... ORPHA:247691
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Congestive heart failure, Tachycardia ORPHA:90033
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Facial palsy, Splenomegaly, Dyspnea, Pneumothorax, Bronchiectasis, Hypoxemia, Restr... OMIM:612387
Fanconi Renotubular Syndrome 5
Hypertension OMIM:618913
Spinal Arteriovenous Metameric Syndrome
Congestive heart failure, Spinal arteriovenous malformation, Arteriovenous malformation ORPHA:53721
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo... OMIM:614842
Familial Glucocorticoid Deficiency
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Decreased circulating c... ORPHA:361
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... OMIM:619702
Secondary Intestinal Lymphangiectasia
Right ventricular failure, Intestinal bleeding, Hypocholesterolemia, Constrictive pericarditis, S... ORPHA:90363
Methimazole Embryofetopathy
Ventricular septal defect, Abnormality of the thyroid gland, Coarctation of aorta, Abnormal aorti... ORPHA:1923
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Hyperprolinemia, Bradycardia, Pulmonary arterial hypertension, Increased total... OMIM:616299
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Hydrops fetalis ORPHA:766
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Secundum atrial sept... OMIM:614300
Sickle Cell Disease
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypoxemia, Hypertension, Stroke, Priapism OMIM:603903
Nestor-Guillermo Progeria Syndrome
Prominent superficial veins, Left atrial enlargement, Decreased serum leptin, Dyspnea, Flexion co... OMIM:614008
Lymphoid Interstitial Pneumonia
Hepatomegaly, Crackles, Raynaud phenomenon, Dyspnea, Wheezing, Bronchiectasis, Hypoxemia, Restric... ORPHA:79128
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Elevated circulating creatine kinase concentration, Cardiomegaly, Abnormal ... ORPHA:365
Lymphedema-Distichiasis Syndrome
Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Lymphedema, Chylothorax, Arrhythmia OMIM:153400
Neuroleptic Malignant Syndrome
Hyponatremia, Tachycardia, Elevated circulating creatine kinase concentration, Pulmonary embolism... ORPHA:94093
Estrogen Resistance Syndrome
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... ORPHA:785
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Secund... OMIM:608779
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Aortic regurgitation, Carotid artery dissection, Congenital diaphragmati... OMIM:208050
Leprechaunism
Hepatomegaly, Enlarged ovaries, Skeletal muscle atrophy, Hyperinsulinemia, Central hypothyroidism... ORPHA:508
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Tachycardia, Extraadrenal pheochromocytoma, Adrenal pheochromocyt... OMIM:115310
Alkaptonuria
Mitral valve calcification, Abnormal heart valve morphology, Myocardial infarction, Coronary arte... ORPHA:56
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Diabetes mellitus, Hyperthyroidism, Mitral valve prolapse, Hypertension, Aortic root aneurysm, Hy... ORPHA:449291
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Pituitary Adenoma 4, Acth-Secreting
Hypertension, Pituitary adenoma, Increased circulating ACTH level, Edema OMIM:219090
Heme Oxygenase 1 Deficiency
Hypertension, Epistaxis, Diffuse alveolar hemorrhage OMIM:614034
Mercury Poisoning
Hypertension, Tachycardia, Hypotension ORPHA:330021
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Tricuspid regurgitation, Crackles, Dyspnea, Asthma, Wheezing, Bronchiectasis, Mitra... OMIM:620233
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Facial palsy, Congestive heart fa... ORPHA:31826
Dominant Beta-Thalassemia
Hypoparathyroidism, Diabetes mellitus, Hypoplasia of the musculature, High-output congestive hear... ORPHA:231226
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrops fetalis OMIM:616738
Neuroendocrine Tumor Of The Colon
Tricuspid regurgitation, Right ventricular failure, Melena, Palpitations, Hypotension, Facial tel... ORPHA:100080
Adult Acute Respiratory Distress Syndrome
Shock, Vasculitis, Diabetic ketoacidosis, Hypotension, Pancreatitis ORPHA:70578
Autoimmune Polyendocrinopathy Type 1
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... ORPHA:3453
Limited Cutaneous Systemic Sclerosis
Foot joint contracture, Telangiectasia of the skin, Pulmonary arterial hypertension, Joint contra... ORPHA:220402
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure OMIM:178400
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Skeletal muscle atrophy, Transient ischemic attack, Supraventricular arrhyt... ORPHA:3260
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Skeletal muscle atrophy, Sc... ORPHA:98915
Mgat2-Cdg
Abnormality of the endocrine system, Arrhythmia, Hydrops fetalis, Reflex asystolic syncope ORPHA:79329
Nelson Syndrome
Increased urinary cortisol level, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormo... ORPHA:199244
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa... OMIM:619167
Familial Chylomicronemia Syndrome
Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Precocious atherosclerosis, Pulmonar... ORPHA:444490
Aarskog-Scott Syndrome
Cryptorchidism, Camptodactyly of finger, Congestive heart failure ORPHA:915
Pulmonary Hypertension, Primary, 3
Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Elevated pulmonary arte... OMIM:615343
Erdheim-Chester Disease
Hypogonadotropic hypogonadism, Abnormal pericardium morphology, Congestive heart failure, Dyspnea... ORPHA:35687
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Abnormal ci... OMIM:226990
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hypertension OMIM:612924
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,... ORPHA:293978
Bartter Syndrome Type 4
Hypertension, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating ren... ORPHA:89938
Tetanus
Hypertension, Tachycardia, Bradycardia ORPHA:3299
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Diastasis recti, Splenomegaly, Patent ductus arteriosus,... OMIM:608149
Brain-Lung-Thyroid Syndrome
Hypoparathyroidism, Thyroid dysgenesis, Thyroid hemiagenesis, Respiratory distress, Ventricular s... ORPHA:209905
Mucopolysaccharidosis Type 1
Sinusitis, Abnormal heart valve morphology, Apnea, Congestive heart failure, Splenomegaly, Abnorm... ORPHA:579
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hypertension OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hypertension OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hypertension OMIM:612926
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Acquired Idiopathic Sideroblastic Anemia
Splenomegaly, Congestive heart failure, Hepatomegaly ORPHA:75564
Parkes Weber Syndrome
Peripheral arteriovenous fistula, Subarachnoid hemorrhage, Cerebral arteriovenous malformation, V... ORPHA:90307
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral ischemia, Hypote... ORPHA:449285
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Hepatomegaly, Cardiomegaly, Asymmetric septal hypertrophy OMIM:252920
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Pericarditis, Acute pancreatitis, Portal hypertension, Pericardial effusion, Hepato... OMIM:619487
Martsolf Syndrome 1
Hypogonadotropic hypogonadism, Cardiac arrest, Congestive heart failure, Cryptorchidism, Cardiomy... OMIM:212720
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... ORPHA:284169
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, High-output congestive heart failure, Spleno... ORPHA:231222
Trisomy 13
Hydrops fetalis ORPHA:3378
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Aspira... ORPHA:258
Trisomy 1Q
Increased nuchal translucency, Hydrops fetalis, Polyhydramnios ORPHA:261344
Atypical Werner Syndrome
Skeletal muscle atrophy, Abnormal cerebral vascular morphology, Fasting hyperinsulinemia, Prematu... ORPHA:79474
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration, Mitral valve prolapse, Hypertension, Aortic root a... ORPHA:730
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Hepatomegaly, Cardiomegaly, Congestive heart failure, De... ORPHA:14
Bardet-Biedl Syndrome
Hypertension, Hypoplasia of the ovary, Hypogonadism ORPHA:110
Von Hippel-Lindau Disease
Pancreatic islet cell adenoma, Myocardial infarction, Myocarditis, Pancreatic endocrine tumor, Hy... ORPHA:892
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Hypothyroidism, Hydrops fetalis OMIM:613673
Perry Syndrome
Hypotension ORPHA:178509
Beta-Thalassemia Major
Hypoparathyroidism, Hepatomegaly, Diabetes mellitus, Hypoplasia of the musculature, High-output c... ORPHA:231214
Platyspondylic Dysplasia, Torrance Type
Hydrops fetalis, Polyhydramnios ORPHA:85166
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperaldosteronism OMIM:613090
Achondrogenesis, Type Ii
Polyhydramnios, Hydrops fetalis, Edema OMIM:200610
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Low-to-normal blood pressure, Hyperactive renin-angiotensin system, Hyperald... OMIM:601678
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:95613
Gm1 Gangliosidosis Type 1
Cardiomyopathy, Hydrops fetalis, Abnormal placenta morphology ORPHA:79255
Renal Hypoplasia
Hypertension, Premature birth, Dehydration ORPHA:93101
Sandhoff Disease
Hepatomegaly, Orthostatic hypotension, Skeletal muscle atrophy, Cardiomegaly, Hyperhidrosis, Hypo... OMIM:268800
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Diabetes mellitus, Hypomagnesemia, Respiratory insufficiency, Respiratory failure, ... OMIM:613845
Spastic Paraplegia Type 2
Pulmonary embolism ORPHA:99015
Tetrasomy 5P
Respiratory distress, Congestive heart failure, Aplasia/Hypoplasia of the abdominal wall musculat... ORPHA:3309
Congenital Disorder Of Glycosylation, Type Ia
Pericarditis, Hypergonadotropic hypogonadism, Nonimmune hydrops fetalis, Edema, Pericardial effus... OMIM:212065
Nephronophthisis 1
Hypertension OMIM:256100
Dysbetalipoproteinemia
Accelerated atherosclerosis, Decreased HDL cholesterol concentration, Acute pancreatitis, Diabete... ORPHA:412
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Alport Syndrome 2, Autosomal Recessive
Hypertension OMIM:203780
Poems Syndrome
Diabetes mellitus, Pericardial effusion, Abnormality of the endocrine system, Respiratory insuffi... ORPHA:2905
Lipodystrophy, Familial Partial, Type 2
Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertriglyceridemia, Prominent supe... OMIM:151660
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia OMIM:300971
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypertension, Hypothyroidism OMIM:617763
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Neonatal respiratory distress, Ventricular septal defect, Apnea, Flexion contracture... OMIM:614653
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly ORPHA:858
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hypertension OMIM:612925
Noonan Syndrome 9
Cryptorchidism, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta OMIM:616559
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Abnormal cardiac ventricular function, Congestive heart fai... ORPHA:90349
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Neonatal respiratory distress, Apnea, Elevated circulating creatine kinase concentr... OMIM:608836
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas... OMIM:600376
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus, Pituitary ade... ORPHA:97289
Aceruloplasminemia
Torticollis, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc... ORPHA:48818
Neuroendocrine Tumor Of The Rectum
Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Hypotensi... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Hypotensi... ORPHA:100082
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Pulmonary embolism, Hypoalbuminemia, Hypercholesterolemia, Abnormal circula... ORPHA:567548
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Multiple pancreatic beta-cell adenomas, Increa... ORPHA:79644
48,Xxxy Syndrome
Pulmonary embolism, Cryptorchidism, Asthma, Azoospermia, Hypogonadism, Infertility, Type II diabe... ORPHA:96263
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation OMIM:614651
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Respiratory distress, Pulmonary embolism, Dilated card... ORPHA:79282
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Atrioventricular canal defec... OMIM:265380
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
19P13.3 Microduplication Syndrome
Unilateral cryptorchidism, Pulmonary arterial hypertension, Precocious puberty, Ventricular septa... ORPHA:447980
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Congestive heart failure, Irregular menstruation, Respirator... OMIM:616482
Renal Hypoplasia, Bilateral
Hypertension, Premature birth, Edema, Oligohydramnios ORPHA:97362
Ulnar Agenesis And Endocardial Fibroelastosis
Hydrops fetalis OMIM:276822
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus, Pulmonary artery steno... ORPHA:251071
Necrobiosis Lipoidica
Granuloma, Telangiectasia of the skin, Abnormality of neutrophil physiology ORPHA:542592
Behçet Disease
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myositis, Myocardial infarction,... ORPHA:117
Schimke Immunoosseous Dysplasia
Transient ischemic attack, Bilateral cryptorchidism, Dyspnea, Elevated circulating thyroid-stimul... OMIM:242900
Familial Thrombocytosis
Transient ischemic attack, Splenomegaly, Peripheral arterial stenosis, Hyperhidrosis, Syncope, Ce... ORPHA:71493
Alagille Syndrome
Hepatomegaly, Ventricular septal defect, Telangiectasia of the skin, Cryptorchidism, Hypertension... ORPHA:52
Livedoid Vasculopathy
Diabetes mellitus, Telangiectasia of the skin, Pedal edema, Hypertension, Ischemic stroke, Graves... ORPHA:542643
49,Xxxxy Syndrome
Pulmonary embolism, Cryptorchidism, Asthma, Azoospermia, Hypogonadism, Infertility, Type II diabe... ORPHA:96264
Mucopolysaccharidosis, Type Vii
Cardiomyopathy, Hydrops fetalis OMIM:253220
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Hyperalaninemia, Hyperglycinemia, Pulmonary arterial hypertension OMIM:619059
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Renal artery aneurysm, Portal hypertension, Elevated circulating C-reactive protein... OMIM:615688
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Congestive heart failure, Splenomegaly, Vas... ORPHA:33226
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Diabetes insipidu... ORPHA:900
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defe... OMIM:306955
Mccune-Albright Syndrome
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... OMIM:174800
Analbuminemia
Hypotension OMIM:616000
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Bilateral cryptorchidism, Congestive heart failure, Pneumothorax, Right ... OMIM:617403
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... OMIM:610655
Renal Agenesis
Hypertension, Oligohydramnios ORPHA:411709
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Melas
Hypoparathyroidism, Wolff-Parkinson-White syndrome, Diabetes mellitus, Hypogonadotropic hypogonad... ORPHA:550
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hyp... ORPHA:534
Campomelia, Cumming Type
Oligohydramnios, Hydrops fetalis, Lymphedema ORPHA:1318
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Portal hypertension, Hematemesis, Dehydration, Hypertension, Oligohydramnios OMIM:263200
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Neonatal respiratory distress, Diaphragmatic eventration, Ventricular septal defect... OMIM:620025
Mucopolysaccharidosis Type 7
Ascites, Hydrops fetalis, Lymphedema ORPHA:584
Lead Poisoning
Decreased HDL cholesterol concentration, Decreased female libido, Abnormality of the menstrual cy... ORPHA:330015
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Hyperhidrosis, Abnormal ... ORPHA:99827
Primary Progressive Freezing Gait
Hypertension ORPHA:75567
Cardiac Valvular Dysplasia 1
Tricuspid regurgitation, Tricuspid stenosis, Edema, Valvular pulmonary stenosis, Hydrops fetalis,... OMIM:212093
Adenine Phosphoribosyltransferase Deficiency
Hypertension, Atrial fibrillation ORPHA:976
Lethal Congenital Contracture Syndrome 10
Oligohydramnios, Hypoplasia of the thymus, Hydrops fetalis, Fetal akinesia sequence OMIM:617022
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Metrorrhagia, Epistaxis, Intracranial hemorrha... ORPHA:99147
Triosephosphate Isomerase Deficiency
Respiratory distress, Skeletal muscle atrophy, Respiratory insufficiency due to muscle weakness, ... OMIM:615512
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Bangstad Syndrome
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... ORPHA:1227
Bartter Syndrome, Type 2, Antenatal
Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating renin level, Low-... OMIM:241200
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... OMIM:231005
Porphyria, Acute Intermittent
Hypertension, Tachycardia OMIM:176000
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Decreased response to growth hormone stimulation test, Patent foramen ... ORPHA:444077
Cholestasis, Progressive Familial Intrahepatic, 5
Pleural effusion, Ascites, Nonimmune hydrops fetalis OMIM:617049
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Neonatal respiratory distress, Elevated circulating creatine kinase concentration, ... ORPHA:228308
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Hypertension, Decreased fetal movement OMIM:619758
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Increased serum beta-hexosaminidase, Diastasis recti, Cardiom... OMIM:252500
Birk-Landau-Perez Syndrome
Hypertension, Single umbilical artery OMIM:617595
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Abnormal aortic morphology, Ventricular septal defect ORPHA:2516
Beta-Ketothiolase Deficiency
Hypertension, Dehydration, Hypotension, Edema ORPHA:134
Neuroendocrine Tumor Of Stomach
Tricuspid regurgitation, Right ventricular failure, Hematemesis, Increased circulating ACTH level... ORPHA:100075
Posterior Urethral Valve
Hypertension, Fetal pyelectasis, Oligohydramnios ORPHA:93110
Kawasaki Disease
Pericarditis, Abnormal heart valve morphology, Myocarditis, Congestive heart failure, Vasculitis,... ORPHA:2331
Vici Syndrome
Elevated circulating creatine kinase concentration, Congestive heart failure, Dilated cardiomyopa... OMIM:242840
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertension, Arterioven... ORPHA:974
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Hyperbilirubinemia, Pulmonary embolism OMIM:185000
Dyssegmental Dysplasia, Silverman-Handmaker Type
Single umbilical artery, Hydrops fetalis, Increased placental thickness ORPHA:1865
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Transaldolase Deficiency
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Asthma, Telangie... OMIM:606003
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... OMIM:212138
Prader-Willi Syndrome
Decreased fetal movement, Diabetes mellitus, Decreased response to growth hormone stimulation tes... ORPHA:739
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Intraalveolar phospholipid accumulation... OMIM:265120
Diabetic Embryopathy
Ventricular septal defect, Cryptorchidism, Aplasia/Hypoplasia of the abdominal wall musculature, ... ORPHA:1926
Geleophysic Dysplasia 2
Hepatomegaly, Tricuspid stenosis, Respiratory insufficiency, Mitral valve prolapse, Mitral regurg... OMIM:614185
Systemic Sclerosis
Pericarditis, Elevated circulating creatine kinase concentration, Nail bed telangiectasia, Right ... ORPHA:90291
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Congestive heart... ORPHA:506
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Friedreich Ataxia 2
Abnormal EKG, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Diabetic ketoacid... OMIM:601992
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... OMIM:606519
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Ascites, Hydrops fetalis OMIM:614091
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Cryptorchidism, Hyperammonemia, Respiratory insufficiency, Hypertension, Arrhythmia, Hyperalanine... OMIM:614052
Wiedemann-Rautenstrauch Syndrome
Hyperthyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... ORPHA:3455
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Skeletal muscle atrophy, Stroke-like episode, Bradycardia, Pulmonary arteri... OMIM:619272
Low Phospholipid-Associated Cholelithiasis
Hypertension, Diabetes mellitus ORPHA:69663
Carey-Fineman-Ziter Syndrome 1
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Hypoplasia of the mu... OMIM:254940
Gaucher Disease Type 3
Pericardial effusion, Pulmonary arterial hypertension, Hydrops fetalis, Delayed puberty ORPHA:77261
Pearson Syndrome
Hypoparathyroidism, Diabetes mellitus, Decreased response to growth hormone stimulation test, Car... ORPHA:699
Postinfectious Vasculitis
Abnormal circulating protein concentration, Cerebral vasculitis, Pneumonia, Elevated circulating ... ORPHA:48435
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Neoplasm of the... ORPHA:99889
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Prominent superficial veins, Cor triatriatum, Secundum atrial septal defect, Crypto... OMIM:612541
Geleophysic Dysplasia 1
Hepatomegaly, Tricuspid stenosis, Camptodactyly of finger, Congestive heart failure, Aortic valve... OMIM:231050
Achondrogenesis, Type Ia
Increased nuchal translucency, Hydrops fetalis, Polyhydramnios, Absence of stomach bubble on feta... OMIM:200600
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypertension, Hypopl... OMIM:100300
Nipah Virus Disease
Hypotension ORPHA:99825
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Nonimmune hydrops fetalis OMIM:618265
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Abnormal circulating c... OMIM:620306
Microphthalmia, Syndromic 9
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arterio... OMIM:601186
Caudal Regression Syndrome
Hypertension, Maternal diabetes ORPHA:3027
Cantu Syndrome
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus, Congenital h... OMIM:239850
Mosaic Trisomy 9
Single umbilical artery, Hydrops fetalis, Polyhydramnios, Oligohydramnios ORPHA:99776
Serotonin Syndrome
Hypertension, Tachycardia, Hypotension ORPHA:43116
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Skeletal muscle atro... OMIM:256040
Pseudoleprechaunism Syndrome, Patterson Type
Premature adrenarche, Diabetes mellitus, Increased circulating androgen concentration ORPHA:2976
Pulmonary Hypertension, Primary, 2
Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Abnormally loud pulmoni... OMIM:615342
Classic Homocystinuria
Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Intracranial hemorrhage, Hypertens... ORPHA:394
Meacham Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Cryptorchidis... ORPHA:3097
Nephronophthisis-Like Nephropathy 1
Hypertension OMIM:613159
Farber Disease
Joint swelling, Ascites, Hydrops fetalis ORPHA:333
Joubert Syndrome 14
Intracranial hemorrhage, Hypertension, Ventricular septal defect OMIM:614424
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Splenomegaly, Pulmonary venous hypertension, Abnorm... ORPHA:3202
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Respiratory failure, Impaired myocardial contrac... ORPHA:158687
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abnormal sperm motility, F... ORPHA:1359
Meacham Syndrome
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of the right hemidiaphrag... OMIM:608978
Alpha-N-Acetylgalactosaminidase Deficiency
Recurrent pneumonia, Cardiomegaly ORPHA:3137
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... ORPHA:49041
Gaucher Disease, Perinatal Lethal
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Desquamatio... OMIM:608013
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Perianal abscess, Leukocytosis, Bone marrow hypocellularity, Abnormality ... ORPHA:2968
Hurler-Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Camptodactyly of finger, Thenar muscle atrophy, Splenomegaly,... OMIM:607015
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Hypoplasia of the thymus, Increased serum testosterone level OMIM:264090
Yellow Nail Syndrome
Sinusitis, Dyspnea, Bronchiectasis, Hypoplasia of lymphatic vessels, Rhinitis, Cough, Pulmonary a... ORPHA:662
Gaucher Disease Type 1
Hepatomegaly, Pericardial effusion, Splenomegaly, Pulmonary arterial hypertension, Delayed pubert... ORPHA:77259
Neuroblastoma, Susceptibility To, 1
Hypertension OMIM:256700
Aa Amyloidosis
Hypothyroidism, Hypotension, Adrenal insufficiency ORPHA:85445
17Q23.1Q23.2 Microdeletion Syndrome
Dyspnea, Patent ductus arteriosus, Congenital contracture, Atrial septal defect, Pulmonary arteri... ORPHA:261279
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myositis, Myocarditis, Splenomegaly, Dys... ORPHA:809
Braddock Syndrome
Pulmonary arterial hypertension, Neonatal respiratory distress, Congenital muscular torticollis ORPHA:52047
Blau Syndrome
Hypertension, Pericarditis, Cystoid macular edema, Joint swelling OMIM:186580
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Mitral valv... OMIM:616564
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep... OMIM:614947
Paternal Uniparental Disomy Of Chromosome 1
Hypertension, Delayed puberty ORPHA:251004
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly ORPHA:391428
Coach Syndrome 1
Splenomegaly, Hypertension, Portal hypertension, Hepatomegaly OMIM:216360
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating cortisol level, Premature ovarian insufficiency, Orthos... ORPHA:199299
Cranioectodermal Dysplasia 2
Hypertension, Hydrops fetalis, Polyhydramnios OMIM:613610
Autosomal Dominant Dopa-Responsive Dystonia
Hypertension, Hypothyroidism ORPHA:98808
Autosomal Dominant Hypocalcemia
Congestive heart failure, Hyperphosphatemia, Hypocalcemia, Hypotension, Hypomagnesemia, Arrhythmi... ORPHA:428
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Elevated circulating 2-hydroxybutyric acid concentration, Respiratory ... OMIM:605711
Methylcobalamin Deficiency Type Cble
Hypertension ORPHA:2169
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Stroke-like episode, Cardiomyopathy, Impotence, Orthostatic hypotension due to auto... OMIM:105210
Generalized Pustular Psoriasis
Hyponatremia, Elevated circulating C-reactive protein concentration, Congestive heart failure, Hy... ORPHA:247353
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hypertriglyceridemia, Epistaxis, Hyperlipidemia, Irregular menstruation, Thyroiditi... ORPHA:79259
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Intracranial hemorrhage, Abnormal mitral valve morphology, Raynaud phenome... ORPHA:740
Williams Syndrome
Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Myocardial infarction,... ORPHA:904
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperaldosteronism OMIM:602522
Alport Syndrome 1, X-Linked
Hypoparathyroidism, Hypertension OMIM:301050
Schneckenbecken Dysplasia
Nonimmune hydrops fetalis, Polyhydramnios OMIM:269250
Primary Sclerosing Cholangitis
Hepatomegaly, Spider hemangioma, Portal hypertension, Congestive heart failure, Splenomegaly, Dil... ORPHA:171
Inhalational Anthrax
Internal hemorrhage, Hypotension ORPHA:247257
Greenberg Dysplasia
Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Increased nucha... OMIM:215140
46,Xx Sex Reversal 2
Azoospermia, Decreased serum testosterone concentration OMIM:278850
Mogs-Cdg
Respiratory distress, Hepatomegaly, Hypoventilation, Apnea, Cardiomegaly, Hepatosplenomegaly, Hyd... ORPHA:79330
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart ORPHA:2001
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Neuroendocrine Neoplasm Of Appendix
Hepatomegaly, Tricuspid stenosis, Heart murmur, Adrenocorticotropic hormone excess, Palpitations,... ORPHA:100079
Hurler Syndrome
Hepatomegaly, Abnormal heart valve morphology, Angina pectoris, Camptodactyly of finger, Splenome... ORPHA:93473
Fibrochondrogenesis 1
Hydrops fetalis OMIM:228520
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Increased urinary cortisol level, Hyperparathyroidism, Pituitary nul... ORPHA:913
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Congestive heart failure, Recurrent pneumonia, Flexion contracture OMIM:616271
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Nonimmune hydrops fetalis, Lymphedema, Periorbital edema, Pericardial effusion, Thyroid lymphangi... OMIM:235510
Porphyria Variegata
Inappropriate antidiuretic hormone secretion, Hypertension, Tachycardia ORPHA:79473
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Tricuspid regurgitation, Hydrops fetalis OMIM:263520
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Hyperhidrosis, Intracranial hemorrhage, Cough, Internal hemorrhage, Elevate... ORPHA:340
Cutaneous Mastocytoma
Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans ORPHA:79455
Systemic Capillary Leak Syndrome
Pericarditis, Myocarditis, Hypotension, Arrhythmia, Pancreatitis ORPHA:188
Listeriosis
Respiratory distress, Pericarditis, Pneumonia, Myocarditis, Congestive heart failure, Rhabdomyoly... ORPHA:533
Yunis-Varon Syndrome
Polyhydramnios, Increased nuchal translucency, Hydrops fetalis, Renovascular hypertension, Hypert... ORPHA:3472
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis OMIM:217085
Oligomeganephronia
Hypertension, Premature birth, Dehydration ORPHA:2260
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Neonatal respiratory distress, Mitral atresia, Patent ductus arteriosus, Double outlet right vent... OMIM:618164
Fg Syndrome Type 1
Progressive flexion contractures, Cryptorchidism, Mitral valve prolapse, Coarctation of aorta, Sm... ORPHA:93932
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypertension, Orthostatic hypotension, Tachycardia OMIM:223900
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure ORPHA:508542
Testicular Agenesis
Vanishing testis, Decreased serum testosterone concentration, Increased circulating gonadotropin ... ORPHA:325124
Poliomyelitis
Respiratory failure requiring assisted ventilation, Skeletal muscle atrophy, Hypoplasia of the mu... ORPHA:2912
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Cryptorchidism, Pate... OMIM:605275
Mucopolysaccharidosis Type 2
Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly,... ORPHA:580
Autoimmune Lymphoproliferative Syndrome
Vasculitis, Thyroiditis, Hydrops fetalis, Thyroid carcinoma, Thyroid adenoma ORPHA:3261
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypertension, Hypotension OMIM:174000
Glycogen Storage Disease Ia
Hepatomegaly, Decreased muscle mass, Hyperlipidemia, Hypertension, Hyperuricemia, Delayed puberty... OMIM:232200
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... OMIM:131100
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... OMIM:620300
Fragile X-Associated Tremor/Ataxia Syndrome
Hypertension, Hypothyroidism, Hypotension ORPHA:93256
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Acute respiratory distress syndrome, Portal hypertension, Patent foramen ovale, Cryptorchidism, P... OMIM:620005
Congenital Myopathy 22B, Severe Fetal
Decreased fetal movement, Nonimmune hydrops fetalis, Polyhydramnios, Breech presentation, Pleural... OMIM:620369
Somatostatinoma
Gastrointestinal hemorrhage, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone... ORPHA:97283
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... ORPHA:542323
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Dilate... OMIM:619573
Mucopolysaccharidosis Type 2, Severe Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sp... ORPHA:217085
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Abnormal vena cava morpholog... ORPHA:163956
Acrocardiofacial Syndrome
Hyperthyroidism, Ventricular septal defect, Mitral stenosis, Camptodactyly of finger, Cryptorchid... ORPHA:2008
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hypertension, Premature birth, Oligohydramnios OMIM:616914
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Splenomegaly, Spontaneous hemolytic crises, Nonspheroc... OMIM:613470
Ppoma
Gastrointestinal hemorrhage, Hepatomegaly, Elevated circulating growth hormone concentration, Abn... ORPHA:97278
Incontinentia Pigmenti
Telangiectasia of the skin, Camptodactyly of finger, Congestive heart failure, Retinal hemorrhage... ORPHA:464
Von Hippel-Lindau Syndrome
Hypertension, Pheochromocytoma, Paraganglioma OMIM:193300
Bardet-Biedl Syndrome 1
Diabetes mellitus, Nephrogenic diabetes insipidus, Asthma, Hypertension, Hypogonadism, Left ventr... OMIM:209900
Wagro Syndrome
Hypertension OMIM:612469
Methemoglobinemia And Ambiguous Genitalia
Decreased circulating dehydroepiandrosterone-sulfate concentration, Elevated circulating luteiniz... OMIM:250790
Xfe Progeroid Syndrome
Hypertension, Ascites OMIM:610965
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodactyly of finger, Sp... ORPHA:217093
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
3Q29 Microdeletion Syndrome
Pulmonary arterial hypertension, Patent ductus arteriosus, Subvalvular aortic stenosis ORPHA:65286
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Congestive heart failure, Dilatation of the ventricular cavity, Bronchiecta... ORPHA:90348
Galloway-Mowat Syndrome 3
Hypertension, Edema, Oligohydramnios OMIM:617729
Spondyloenchondrodysplasia
Decreased response to growth hormone stimulation test, Raynaud phenomenon, Vasculitis, Hypertensi... ORPHA:1855
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Respiratory distress, Conjugated hyperbilirubinemia, Congestive heart failure, ... OMIM:617156
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Pneumonia, Pericardial effusion, Increased circulating ferritin concentration, Hema... OMIM:615846
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Recurrent pneumonia, Ventricular septal de... OMIM:616449
Dengue Fever
Gastrointestinal hemorrhage, Cerebral hemorrhage, Epistaxis, Hypotension ORPHA:99828
Multiple Benign Circumferential Skin Creases On Limbs
Cryptorchidism, Congestive heart failure ORPHA:2505
Paroxysmal Nocturnal Hemoglobinuria
Decreased serum iron, Myocardial infarction, Pulmonary embolism, Dyspnea, Hypertension, Impotence... ORPHA:447
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hypertension OMIM:235400
African Trypanosomiasis
Abnormal EKG, Pericarditis, Hepatomegaly, Abnormality of the menstrual cycle, Abnormality of the ... ORPHA:3385
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Pate... OMIM:270100
Fucosidosis
Hepatomegaly, Decreased muscle mass, Cardiomegaly, Hyperhidrosis, Hypothyroidism ORPHA:349
Grfoma
Gastrointestinal hemorrhage, Hepatomegaly, Elevated circulating growth hormone concentration, Neo... ORPHA:97261
Fraser Syndrome 3
Sonographic non-visualized fetal bladder, Ascites, Nonimmune hydrops fetalis, Oligohydramnios OMIM:617667
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Small intestine carcinoid, Pal... ORPHA:100078
Scalp-Ear-Nipple Syndrome
Type I diabetes mellitus, Hypertension, Palpebral edema ORPHA:2036
Renal Tubular Dysgenesis
Hypotension OMIM:267430
Anemia, Congenital Dyserythropoietic, Type Ia
Hydrops fetalis OMIM:224120
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Respiratory failure requiring assisted ventilation, Thoracic aortic aneurysm, Patent ductus arter... OMIM:619351
Vipoma
Hepatomegaly, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating growth hormon... ORPHA:97282
Familial Dysautonomia
Hypertension, Orthostatic hypotension, Tachycardia ORPHA:1764
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Tricuspid regurgitation, Pneumonia, Splenomegaly, Flexion contracture, Cardiomyopat... OMIM:253200
Staphylococcal Necrotizing Pneumonia
Shock, Diabetes mellitus, Hypotension, Increased circulating procalcitonin concentration ORPHA:36238
Encephalocraniocutaneous Lipomatosis
Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid valve prolap... ORPHA:2396
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Elevated circulating alpha-fetoprotein concentration, Patent ductus arteriosus, Hydrocele testis,... ORPHA:280633
Glycogen Storage Disease Ic
Hypertension, Pulmonary arterial hypertension, Spider hemangioma, Delayed puberty OMIM:232240
Hardikar Syndrome
Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Portal hyp... OMIM:301068
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Bone-marrow foam cells, Precocious ath... ORPHA:275761
Hennekam Syndrome
Lymphedema, Pericardial effusion, Hydrops fetalis, Chylothorax, Ascites ORPHA:2136
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Hyperkalemia,... ORPHA:90790
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis OMIM:226100
Whipple Disease
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Myocarditis, Hypotension, Erect... ORPHA:3452
Scrub Typhus
Myocarditis, Hypotension, Hyperhidrosis ORPHA:83317
Pyruvate Kinase Deficiency Of Red Cells
Nonimmune hydrops fetalis OMIM:266200
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Bilateral fetal pyelectasis, Polyhydramnios, Breech presentation, Hydrops fetalis, Fetal distress OMIM:300868
Cantú Syndrome
Patent ductus arteriosus, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Acute Intermittent Porphyria
Hyponatremia, Proximal muscle weakness in upper limbs, Tachycardia, Respiratory insufficiency, Hy... ORPHA:79276
Diamond-Blackfan Anemia 1
Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Coarctation of aorta, Sm... OMIM:105650
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal respiratory distress, Neonatal insulin-dependent diabetes mellitus, Ventri... ORPHA:96191
Pseudohypoparathyroidism Type 1A
Calcinosis, Prolonged QT interval, Hypergonadotropic hypogonadism, Decreased response to growth h... ORPHA:79443
Scalp-Ear-Nipple Syndrome
Cardiac myxoma, Congestive heart failure, Hypohidrosis, Hypertension, Supraventricular tachycardia OMIM:181270
Papillorenal Syndrome
Hypertension, Edema OMIM:120330
Alexander Disease
Diabetes mellitus, Sudden cardiac death, Precocious puberty, Hypertension, Hypotension, Hypothyro... ORPHA:58
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Cerebral artery stenosis, Rhabdomyosarcoma, Precocious puberty, Abnor... ORPHA:97685
Sturge-Weber Syndrome
Conjunctival telangiectasia, Stroke, Abnormal cerebral vascular morphology, Pulmonary embolism ORPHA:3205
Ogden Syndrome
Bicuspid aortic valve, Apnea, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Ven... OMIM:300855
Hunter-Macdonald Syndrome
Aortic regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse, Hyp... OMIM:611962
Glycogen Storage Disease Ib
Hepatomegaly, Splenomegaly, Hypertension, Delayed puberty, Enlarged kidney OMIM:232220
Multiple Pterygium Syndrome, Escobar Variant
Decreased fetal movement, Hydrops fetalis OMIM:265000
Alport Syndrome 3A, Autosomal Dominant
Hypertension OMIM:104200
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Cryptorchidism, Patent ductus arteriosus, Genera... OMIM:139210
Pearson Marrow-Pancreas Syndrome
Type I diabetes mellitus, Hydrops fetalis, Dehydration OMIM:557000
Somatomammotropinoma
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... ORPHA:314769
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arterio... OMIM:618454
Myhre Syndrome
Precocious puberty, Cryptorchidism, Skeletal muscle hypertrophy, Hypertension, Abnormal cardiac s... ORPHA:2588
Keutel Syndrome
Sinusitis, Ventricular septal defect, Hypertension, Pulmonary artery hypoplasia, Pulmonic stenosi... OMIM:245150
Blomstrand Lethal Chondrodysplasia
Premature birth, Hydrops fetalis, Polyhydramnios ORPHA:50945
Pagod Syndrome
Sudden cardiac death, Congenital diaphragmatic hernia, Situs inversus totalis, Pulmonary artery h... ORPHA:991
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, P... OMIM:182250
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hypertension ORPHA:1555
Marshall-Smith Syndrome
Ventricular septal defect, Apnea, Bilateral cryptorchidism, Cryptorchidism, Patent ductus arterio... OMIM:602535
Chromosome 5Q12 Deletion Syndrome
Hypotension OMIM:615668
Pde4D Haploinsufficiency Syndrome
Cryptorchidism, Elevated circulating parathyroid hormone level, Hypotension ORPHA:439822
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... ORPHA:1435
Glucagonoma
Gastrointestinal hemorrhage, Hepatomegaly, Diabetes mellitus, Elevated circulating growth hormone... ORPHA:97280
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Cryptorchidism, Decreased serum testosterone concentration ORPHA:495875
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Diabetes mellitus, Pneumonia, Myocarditis, Dyspnea, Hyperkalemia, Hypertension, Ple... ORPHA:544482
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Alport Syndrome
Dyspnea, Renal glomerular foam cells, Stridor, Hypertension, Abnormal aortic morphology, Cough, A... ORPHA:63
Senior-Boichis Syndrome
Hypertension, Ascites, Portal hypertension ORPHA:84081
Tuberous Sclerosis Complex
Respiratory distress, Pancreatic endocrine tumor, Pituitary adenoma, Parathyroid hyperplasia, Car... ORPHA:805
Hereditary Elliptocytosis
Hydrops fetalis ORPHA:288
Multiple Endocrine Neoplasia Type 2
Paraganglioma of head and neck, Thyroid C cell hyperplasia, Primary hyperparathyroidism, Parathyr... ORPHA:653
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrops fetalis, Polyhydramnios OMIM:616546
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Apnea, Abnormal pulmonary valve morphology, Splenomegaly, Pulmonary artery stenosis... ORPHA:667
Blau Syndrome
Pericarditis, Facial palsy, Camptodactyly of finger, Splenomegaly, Dyspnea, Xerostomia, Large ves... ORPHA:90340
Cockayne Syndrome Type 1
Hepatomegaly, Foot joint contracture, Cryptorchidism, Hypohidrosis, Hypertension, Increased blood... ORPHA:90321
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Recurrent pneumonia, Left superior vena cava draining to coronary sinu... ORPHA:464738
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Spontaneous, recurrent epistaxis, Abnormal dense granu... OMIM:214500
Gaucher Disease
Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium m... ORPHA:355
Acromegaly
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... ORPHA:963
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent... OMIM:201810
Heart Block, Congenital
Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... OMIM:234700
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Apnea, Rhabdomyosarcoma, Coarctation of aorta, Abnormal aortic morphology, ... ORPHA:1052
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hypertension, Myocardial infarction, Dehydration ORPHA:90038
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... OMIM:300967
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Hypertension, Hypokalemia, Hypocalcemia, Renal artery ste... OMIM:617913
Aicardi-Goutières Syndrome
Myositis, Diabetes mellitus, Multiple joint contractures, Cardiomegaly, Raynaud phenomenon, Calci... ORPHA:51
Hallermann-Streiff Syndrome
Cryptorchidism, Congestive heart failure, Respiratory insufficiency, Tracheomalacia, Hypothyroidism ORPHA:2108
Legionnaires Disease
Pericarditis, Myocarditis, Hypotension, Arrhythmia, Pancreatitis ORPHA:549
Au-Kline Syndrome
Thickened nuchal skin fold, Breech presentation, Fetal pericardial effusion, Hypertension, Single... OMIM:616580
Mycophenolate Mofetil Embryopathy
Hydrops fetalis ORPHA:268249
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Torticollis, Ventricular septal defect, Bicuspid aortic valve, Congestive h... OMIM:619475
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar muscle atrophy, Ab... ORPHA:2463
Dermatomyositis
Pericarditis, Telangiectasia of the skin, Myocardial infarction, Myocarditis, Vasculitis, Respira... ORPHA:221
Alström Syndrome
Respiratory distress, Decreased response to growth hormone stimulation test, Elevated circulating... ORPHA:64
Relapsing Fever
Tachycardia, Epistaxis, Hypotension ORPHA:91547
Carnitine-Acylcarnitine Translocase Deficiency
Cardiomyopathy, Arrhythmia, Ventricular tachycardia, Hypotension ORPHA:159
Pierson Syndrome
Hypertension, Retinal hemorrhage, Edema, Oligohydramnios OMIM:609049
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired oxidative... OMIM:618935
Meningococcal Meningitis
Shock, Hypotension ORPHA:33475
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly ORPHA:79280
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Secundum atrial septal defect, Conjugated hyperbilirubinemia, Prim... OMIM:619534
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Bicuspid aortic valve, Mitral atresia, Tachypnea, Aortic valve atresia, Hyperammonemia, Coarctati... OMIM:220111
Carey-Fineman-Ziter Syndrome
Hypertensive crisis ORPHA:1358
Phace Syndrome
Cerebral arteriovenous malformation, Abnormal heart morphology, Coarctation of aorta, Aortic root... ORPHA:42775
Apert Syndrome
Hypertension ORPHA:87
Necrotizing Enterocolitis
Shock, Bradycardia, Hypotension ORPHA:391673
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Congestive heart failure, Recurrent pneumonia, Arterial rupture, Res... OMIM:225400
Fetal Akinesia Deformation Sequence 1
Decreased fetal movement, Premature birth, Nonimmune hydrops fetalis, Polyhydramnios, Fetal akine... OMIM:208150
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Mitral valve calcification, Aortic valve calcification, Splenom... ORPHA:2072
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Tachypnea, Respiratory insufficiency, Hepato... OMIM:618278
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hypotension ORPHA:79456
Aggressive Systemic Mastocytosis
Hypotension, Gastrointestinal hemorrhage, Portal hypertension ORPHA:98850
Liver Disease, Severe Congenital
Cardiomegaly, Abnormal left ventricular function, Hypocalcemia, Elevated hepatic iron concentrati... OMIM:619991
22Q11.2 Deletion Syndrome
Abnormal aortic arch morphology, Hypoplasia of the thymus, Hypocalcemia, Atrial septal defect, Hy... ORPHA:567
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
Denys-Drash Syndrome
Hypertension OMIM:194080
Familial Osteodysplasia, Anderson Type
Hypertension ORPHA:2769
Phocomelia, Schinzel Type
Hydrops fetalis ORPHA:2879
Hallermann-Streiff Syndrome
Hypertension, Pulmonary arterial hypertension, Telangiectasia OMIM:234100
Beare-Stevenson Cutis Gyrata Syndrome
Hypertension OMIM:123790
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Hypertriglyceridemia, Spontaneous pneumothorax, Pulmonary arteriovenous ... OMIM:606721
Holoprosencephaly
Hyponatremia, Diabetes mellitus, Ventricular septal defect, Abnormal pulmonary valve morphology, ... ORPHA:2162
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Diastasis recti, Cardiomegaly, Cryptorchidism, Adrenocor... OMIM:130650
Osteogenesis Imperfecta, Type Iii
Pulmonary arterial hypertension OMIM:259420
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Aplasia of the thymus, Facial palsy, Patent foramen ovale, Congenital hypothyroidism, Hydrocele t... OMIM:620186
Fryns Syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Abnormal aortic arch morphology, Abnormal cardia... ORPHA:2059
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pericardial effusion, Splenomegaly, Dyspnea, Bronchiectasis, Hypoxemia, Restrictive... OMIM:181000
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ... OMIM:245600
Renal Dysplasia
Hypertension, Oligohydramnios ORPHA:93108
Stuve-Wiedemann Syndrome 1
Apnea, Pulmonary arterial medial hypertrophy, Elbow flexion contracture, Respiratory insufficienc... OMIM:601559
Acute Transverse Myelitis
Orthostatic hypotension, Decreased circulating copper concentration, Subarachnoid hemorrhage, Upp... ORPHA:139417
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Prolonged QT interval, Flexion contracture, Stridor, Camptodactyly, Pulmonary arterial hypertension OMIM:620029
Cockayne Syndrome A
Anhidrosis, Hepatomegaly, Hip contracture, Cryptorchidism, Splenomegaly, Irregular menstruation, ... OMIM:216400
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Epistaxis, Thrombocytopenia, Splenomegaly, Vacuolate... ORPHA:167
Fontaine Progeroid Syndrome
Atrial septal defect, Prominent superficial veins, Tricuspid regurgitation, Bicuspid aortic valve... OMIM:612289
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Cryptorchidism, Absent pulmonary artery, Patent ductus arteriosus, Coa... OMIM:600460
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Ventricular septal defect, Precocious puberty, Cryptorchidism, Patent ductus arteri... OMIM:270400
Schwartz-Jampel Syndrome
Hip contracture, Skeletal muscle atrophy, Apnea, Elevated circulating creatine kinase concentrati... ORPHA:800
Acute Radiation Syndrome
Hypotension, Telangiectasia ORPHA:454831
Degcags Syndrome
Hepatomegaly, Tachycardia, Diaphragmatic eventration, Ventricular septal defect, Pneumonia, Trach... OMIM:619488
Fucosidosis
Hepatomegaly, Anhidrosis, Cardiomegaly, Splenomegaly, Flexion contracture, Macroglossia, Cherry r... OMIM:230000
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Cryptorchidism, Muscula... OMIM:210710
Neurofibromatosis, Type I
Parathyroid adenoma, Hypertension, Pheochromocytoma OMIM:162200
Williams-Beuren Syndrome
Diabetes mellitus, Bicuspid aortic valve, Ventricular septal defect, Hypercalcemia, Portal hypert... OMIM:194050
Cockayne Syndrome
Anhidrosis, Hepatomegaly, Diabetes mellitus, Skeletal muscle atrophy, Cryptorchidism, Splenomegal... ORPHA:191
Fanconi Anemia
Abnormality of the hypothalamus-pituitary axis, Cryptorchidism, Patent ductus arteriosus, Azoospe... ORPHA:84
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect... OMIM:143095
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... ORPHA:249
Niemann-Pick Disease Type C
Ascites, Hydrops fetalis, Fetal ascites ORPHA:646
Orofaciodigital Syndrome I
Hypertension, Vascular dilatation, Abnormal heart morphology OMIM:311200
Lujo Hemorrhagic Fever
Shock, Myocarditis, Hyperhidrosis, Subconjunctival hemorrhage, Bradycardia, Hypotension ORPHA:319213
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Secundum atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Bicuspi... OMIM:613355
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension, Hyperhidrosis OMIM:608643
Tetrasomy 9P
Pericarditis, Juxtaductal coarctation of the aorta, Myositis, Dextrocardia, Raynaud phenomenon, C... ORPHA:3310
Ctcf-Related Neurodevelopmental Disorder
Cryptorchidism, Patent ductus arteriosus, Coarctation of aorta, Mitral regurgitation, Joint contr... ORPHA:363611
Pmm2-Cdg
Pericarditis, Angina pectoris, Intracranial hemorrhage, Impaired neutrophil chemotaxis, Hypertrop... ORPHA:79318
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Atrioventricular block, Upper airw... ORPHA:581
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Multiple joint contractures, Cardiomegaly, Cryptorchidism, Macroglossia, Arthrogryp... OMIM:618143
Proteus Syndrome
Thymus hyperplasia, Decreased muscle mass, Testicular neoplasm, Sudden cardiac death, Neoplasm of... ORPHA:744
Bohring-Opitz Syndrome
Apnea, Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contractur... ORPHA:97297
Systemic Lupus Erythematosus
Raynaud phenomenon, Hypertension ORPHA:536
Spinocerebellar Ataxia Type 7
Congestive heart failure ORPHA:94147
Bacterial Toxic-Shock Syndrome
Shock, Tachycardia, Myocarditis, Capillary leak, Hypotension ORPHA:36234
Hepatoerythropoietic Porphyria
Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema ORPHA:95159
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Hypoxemia, Cryptorchidism, Patent ductus arteriosus, Pulmonary arterial hypertension ORPHA:2282
Hennekam-Beemer Syndrome
Arrhythmia, Telangiectasia of the skin, Hypotension ORPHA:2135
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Hypoplastic left heart, Tetralog... OMIM:618748
15Q Overgrowth Syndrome
Tricuspid regurgitation, Contracture of the proximal interphalangeal joint of the 2nd finger, Mit... ORPHA:314585
Congenital Disorder Of Glycosylation, Type Iim
Hypertension, Oligohydramnios OMIM:300896
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Dilated cardiomyopathy, Cardiac arrest, Hypotension ORPHA:20
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Portal hypertension, Hypertension, Ascites, Oligohydramnios ORPHA:731
Cholera
Hypovolemic shock, Tachycardia, Hypotension ORPHA:173
2Q37 Microdeletion Syndrome
Tracheomalacia, Abnormal aortic morphology, Congenital diaphragmatic hernia ORPHA:1001
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Ventricular septal defect, Interphalangeal joint contracture of finger, Diastasis r... ORPHA:96334
Igg4-Related Kidney Disease
Pericarditis, Elevated circulating C-reactive protein concentration, Abnormality of the anterior ... ORPHA:449395
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Diastasis recti, Elevated circulating alpha-fetoprotein ... ORPHA:116
Sepsis In Premature Infants
Tachycardia, Bradycardia, Hypotension ORPHA:90051
Arima Syndrome
Hypertension OMIM:243910
Cockayne Syndrome B
Splenomegaly, Hypertension, Arrhythmia, Hepatomegaly OMIM:133540
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hypertension, Edema OMIM:266920
Yunis-Varon Syndrome
Premature birth, Polyhydramnios, Hydrops fetalis, Heart murmur, Cardiomyopathy, Pulmonary arteria... OMIM:216340
Congenital Erythropoietic Porphyria
Abnormality of the amniotic fluid, Nonimmune hydrops fetalis, Edema ORPHA:79277
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Syncope, Hypotension ORPHA:98849
Melnick-Needles Syndrome
Pulmonary arterial hypertension, Tricuspid valve prolapse, Mitral valve prolapse OMIM:309350
Hellp Syndrome
Cerebral hemorrhage, Internal hemorrhage, Hypotension ORPHA:244242
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transient ischemic attack, Epistax... ORPHA:2929
Autosomal Recessive Robinow Syndrome
Ventricular septal defect, Abnormal pulmonary valve morphology, Camptodactyly of finger, Cryptorc... ORPHA:1507
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Anhidrosis, ST segment depression, Hypotension, Abnormal T-wave, Abnormal ... ORPHA:466650
Neurofibromatosis Type 1
Abnormality of the endocrine system, Precocious puberty, Hypertension, Pheochromocytoma, Delayed ... ORPHA:636
Diamond-Blackfan Anemia
Nonimmune hydrops fetalis ORPHA:124
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypocalcemia, Secondary hyperpa... ORPHA:2785
Orofaciodigital Syndrome Type 1
Hypertension ORPHA:2750
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess OMIM:233710
Cog1-Cdg
Pulmonary arterial hypertension, Atrial septal dilatation, Hepatosplenomegaly ORPHA:263508
Marburg Hemorrhagic Fever
Shock, Tachycardia, Pericarditis, Orchitis, Pancreatitis, Hypovolemia, Capillary leak, Subconjunc... ORPHA:99826
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess OMIM:233690
Hereditary Angioedema Type 1
Hypotension ORPHA:100050
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Hypertension, Hydromyelia, Corneal neovascularization, Oligohydramnios OMIM:308205
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Granuloma, Rectal abscess OMIM:306400
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hydrops fetalis ORPHA:93271
Leptospirosis
Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctival hemorrhage... ORPHA:509
Acute Liver Failure
Shock, Gastrointestinal hemorrhage, Intracranial hemorrhage, Adrenal insufficiency, Hypotension ORPHA:90062
Plague
Hematemesis, Tachycardia, Arrhythmia, Hypotension ORPHA:707

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Npr1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Npr1.

No publications found that use IMPC mice or data for Npr1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Npr1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Npr1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Npr1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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