Gene Summary

Name:
X-linked inhibitor of apoptosis
Synonyms:
IAP3,  Api3,  Aipa,  ILP-1,  Birc4,  1110015C02Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
absent testes Xiaptm1a(EUCOMM)Hmgu HOM Early adult 3.83×10-11
increased IgG1 level Xiaptm1a(EUCOMM)Hmgu HOM   Early adult 2.19×10-05
increased circulating sodium level Xiaptm1a(EUCOMM)Hmgu HEM   Early adult 1.14×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes
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Viewing: all phenotypes

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 Xiap 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.

The table below shows human diseases associated to Xiap by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lymphoproliferative Syndrome, X-Linked, 2
Decreased circulating antibody level OMIM:300635

The table below shows human diseases predicted to be associated to Xiap by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cardiomyopathy, Familial Hypertrophic, 15
Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:613255
Endocardial Fibroelastosis
Endocardial fibroelastosis, Congestive heart failure, Cardiomyopathy OMIM:226000
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:604765
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Syncope OMIM:613694
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Syncope OMIM:613697
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:606685
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Cardiomyopathy, Dilated, 1J
Sudden cardiac death, Congestive heart failure, Abnormal left ventricular function, Dilated cardi... OMIM:605362
Cardiomyopathy, Dilated, 1Dd
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:613172
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function OMIM:609909
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Abnormal cardiac ventricular function, Congestive heart failure ORPHA:217622
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure OMIM:611880
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Congestive heart failure OMIM:613881
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis OMIM:192600
Cardiomyopathy, Dilated, 1B
Ventricular arrhythmia, Impaired myocardial contractility, Congestive heart failure, Dilated card... OMIM:600884
Cardiomyopathy, Dilated, 1A
Ventricular arrhythmia, Atrial flutter, Pericardial effusion, Atrial fibrillation, Congestive hea... OMIM:115200
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgG level, Increased circulating IgA level OMIM:144120
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome
Hyponatremia ORPHA:3225
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Cardiomyopathy, Dilated, 1Kk
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Ventricular septal h... OMIM:615248
Cardiomyopathy, Familial Hypertrophic, 26
Left atrial enlargement, Mitral regurgitation, Congestive heart failure, Atrial fibrillation OMIM:617047
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Sudden cardiac death, Con... OMIM:604169
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... OMIM:608751
Cardiomyopathy, Dilated, 2B
Dilated cardiomyopathy, Congestive heart failure, Atrial fibrillation OMIM:614672
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, ... ORPHA:45453
Cardiomyopathy, Dilated, 1D
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... OMIM:601494
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Increased circulating IgM level, Decreased circulating IgA level, Impaired Ig class... OMIM:608106
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Arrhythmia, Abnormal heart valve morphology, Hypertension, Pulmonary embolism, Congestive heart f... ORPHA:1345
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Hyperchlorhidrosis, Isolated
Hyperkalemia, Hyponatremia OMIM:143860
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Combined Oxidative Phosphorylation Deficiency 17
Congestive heart failure, Hypertrophic cardiomyopathy OMIM:615440
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia OMIM:611878
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, De... OMIM:606843
Hydrops Fetalis, Nonimmune
Congestive heart failure, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Familial Cutaneous Collagenoma
Angina pectoris, Congestive heart failure, Cardiomyopathy, Atrial septal defect ORPHA:53296
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Congestive heart failure, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy OMIM:617222
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Combined Oxidative Phosphorylation Deficiency 23
Cardiomyopathy, Arrhythmia, Congestive heart failure OMIM:616198
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Bundle branch block, Congestive heart failure, Heart block, Syncope ORPHA:871
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure OMIM:301021
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio... OMIM:607450
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Pericardial effusion, Abn... ORPHA:300751
Aorto-Ventricular Tunnel
Abnormal heart valve morphology, Heart murmur, Congestive heart failure, Ventricular hypertrophy ORPHA:3400
Congenital Left Ventricular Aneurysm
Arrhythmia, Abnormal T-wave, Congestive heart failure, Abnormal ST segment, Abnormal left ventric... ORPHA:1055
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis ORPHA:2022
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Cardiomyocyte hypertrophy, Ventricular tachycardia, Congestive heart failure, Edema, Dilated card... OMIM:605676
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... ORPHA:217607
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Decreased circulating IgG level OMIM:247630
Butyrylcholinesterase Deficiency
Myocardial infarction, Congestive heart failure ORPHA:132
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Palpitations, Anomalous pulmonary venous return, Cardiac conductio... ORPHA:99105
Mitochondrial Complex I Deficiency, Nuclear Type 11
Congestive heart failure, Hypertrophic cardiomyopathy OMIM:618234
Familial Atrial Myxoma
Pedal edema, Cardiac myxoma, Tricuspid regurgitation, Heart murmur, Congestive heart failure, Pul... ORPHA:615
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level OMIM:242870
Atrial Standstill
Left ventricular noncompaction, Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic str... ORPHA:1344
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Atrial flutter, Congestive heart failure, Cardiomegaly OMIM:300886
Congenital Pulmonary Lymphangiectasia
Hydrops fetalis, Pleural effusion, Tricuspid regurgitation, Pulmonic stenosis, Congestive heart f... ORPHA:2414
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Congenital Tricuspid Stenosis
Hypotension, Tricuspid regurgitation, Tricuspid stenosis, Heart murmur, Congestive heart failure,... ORPHA:95459
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Hyponatremia, Decreased serum creatinine OMIM:300539
Iron Overload In Africa
Elevated transferrin saturation OMIM:601195
Atransferrinemia
Congestive heart failure OMIM:209300
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Short chordae tendineae of the mitral valve, Conge... OMIM:314400
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Atrioventricular Septal Defect 3
Inlet ventricular septal defect, Midsystolic murmur, Atrioventricular canal defect, Hypertension,... OMIM:600309
Ebstein Malformation Of The Tricuspid Valve
Arrhythmia, Atrial septal defect, Abnormal endocardium morphology, Imperforate tricuspid valve, A... ORPHA:1880
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Polyclonal elevation of IgM, Monoclonal immunoglobulin M proteinemia OMIM:153600
Maternally-Inherited Diabetes And Deafness
Arrhythmia, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy ORPHA:225
Arterial Calcification, Generalized, Of Infancy, 2
Myocardial infarction, Congestive heart failure, Hypertension OMIM:614473
Hemochromatosis, Type 2B
Congestive heart failure, Cardiomyopathy OMIM:613313
Myopathy, Myosin Storage, Autosomal Recessive
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:255160
Naxos Disease
Arrhythmia, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricular tachycardia, C... ORPHA:34217
Immunodeficiency 25
Increased circulating IgM level, Increased circulating IgE level, Decreased circulating IgG2 leve... OMIM:610163
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Tricuspid regurgitation, Congestive heart failure, Bicuspid aortic valve,... OMIM:613426
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia OMIM:616949
Combined Oxidative Phosphorylation Deficiency 22
Pulmonary arterial hypertension, Congestive heart failure OMIM:616045
Peripartum Cardiomyopathy
Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal cardiac atrium morphology... ORPHA:563
Hyperaldosteronism, Familial, Type Ii
Hypokalemia OMIM:605635
Dyskinesia, Familial, With Facial Myokymia
Dilated cardiomyopathy, Congestive heart failure OMIM:606703
Idiopathic Pulmonary Arterial Hypertension
Palpitations, Elevated pulmonary artery pressure, Increased pulmonary vascular resistance, Pedal ... ORPHA:275766
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Atrial septal defect, Ventricular septal defect, Congestive heart ... ORPHA:49827
Combined Oxidative Phosphorylation Deficiency 28
Polyhydramnios, Congestive heart failure OMIM:616794
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Congestive heart failure, Cardiomegaly OMIM:618654
Immunodeficiency, Common Variable, 7
Reduced isohemagglutinin level, Decreased circulating total IgG, Decreased circulating IgA level,... OMIM:614699
Klippel-Trénaunay Syndrome
Hydrops fetalis, Atrial septal defect, Prolonged bleeding time, Gastrointestinal hemorrhage, Inte... ORPHA:90308
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomyopathy OMIM:602390
Desminopathy
Supraventricular arrhythmia, Concentric hypertrophic cardiomyopathy, Sudden cardiac death, Atriov... ORPHA:98909
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Hypernatremia OMIM:125800
Morbid Obesity And Spermatogenic Failure
Myocardial infarction, Congestive heart failure, Hypertension OMIM:615703
Diabetes Insipidus, Nephrogenic, X-Linked
Hypernatremia OMIM:304800
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Congestive heart failure ORPHA:324588
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Hypertension, Con... OMIM:540000
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Decreased circulating IgG level, Decreased circulating Ig... OMIM:605258
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Bradycardia, Left ventricular hypertrophy, Ventricular hypertrophy OMIM:619048
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Hb Bart'S Hydrops Fetalis
Polyhydramnios, Hydrops fetalis, Pericarditis, Oligohydramnios, Congestive heart failure ORPHA:163596
Barth Syndrome
Arrhythmia, Endocardial fibroelastosis, Congestive heart failure, Dilated cardiomyopathy, Hypertr... OMIM:302060
Sandhoff Disease
Congestive heart failure ORPHA:796
Chronic Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia ORPHA:529799
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Hypertrophic cardiomyopathy ORPHA:91130
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hyperkalemia, Hyponatremia OMIM:614736
Complete Atrioventricular Septal Defect
Right ventricular failure, Elevated pulmonary artery pressure, Complete atrioventricular canal de... ORPHA:1329
Immunodeficiency, Common Variable, 14
Defective B cell differentiation, Decreased specific antibody response to vaccination, Decreased ... OMIM:617765
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Abnormal left ventricular function, Tricuspid regurgitation, Right atrial enlarge... ORPHA:99103
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:610600
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortened PR interval, Ascites,... OMIM:261740
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Right bundle branch block, Pericardial effusion, Left bundle branch bloc... OMIM:115197
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failure, Prolonged QT interv... OMIM:610198
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia OMIM:615508
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Right atrial enlargement, Pulmonary arterial hypertensio... ORPHA:99106
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:203400
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Increased circulating renin level, Hypochloremia OMIM:300971
Collagenoma, Familial Cutaneous
Atrial fibrillation, Tricuspid regurgitation, Congestive heart failure, Vasculitis, Right ventric... OMIM:115250
Hypoadrenocorticism, Familial
Hyperkalemia, Hyponatremia OMIM:240200
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Cardiac conduction abnormality, Single ventricle, Supraventricular... ORPHA:216694
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Immunodeficiency 72 With Autoinflammation
Increased circulating IgG level, Increased circulating IgE level OMIM:618982
Non-Involuting Congenital Hemangioma
Congestive heart failure, Telangiectasia of the skin ORPHA:141179
Neuroleptic Malignant Syndrome
Hypocalcemia, Hypernatremia, Hyponatremia, Elevated circulating creatine kinase concentration, Hy... ORPHA:94093
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Decreased circulating total IgM, Decreased circulating I... OMIM:613493
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Webb-Dattani Syndrome
Hypernatremia OMIM:615926
Immunodeficiency 64
Increased circulating IgM level, Defective T cell proliferation, Increased circulating IgG level,... OMIM:618534
Myeloma, Multiple
Paraproteinemia OMIM:254500
Pyruvate Carboxylase Deficiency
Hypernatremia, Hypoglutaminemia, Increased serum pyruvate, Increased level of L-glutamic acid in ... ORPHA:3008
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Pleural effusion, Pedal edema, ... ORPHA:330001
Whim Syndrome 1
Abnormality of female external genitalia, Decreased circulating antibody level, Decreased circula... OMIM:193670
Congenital Muscular Dystrophy Due To Lmna Mutation
Congestive heart failure, Arrhythmia ORPHA:157973
Rapidly Involuting Congenital Hemangioma
Congestive heart failure, Telangiectasia of the skin ORPHA:141184
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Hypertension, Perimembr... ORPHA:1457
Nephrogenic Diabetes Insipidus
Hypernatremia ORPHA:223
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Congestive heart failure, Hypertension OMIM:208000
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Increased circulating IgG level OMIM:619220
Infantile Sialic Acid Storage Disease
Ascites, Congestive heart failure, Hydrops fetalis, Cardiomegaly OMIM:269920
Cardiogenic Shock
Low pulse pressure, Right ventricular failure, Hypotension, Abnormal left ventricular function, I... ORPHA:97292
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:177735
Mulibrey Nanism
Hydrops fetalis, Myocardial fibrosis, Congestive heart failure, Ascites, Cardiomegaly, Pericardia... OMIM:253250
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6, Decreased circulating IgG level, Increased circulating IgE l... OMIM:618944
Cednik Syndrome
Congestive heart failure ORPHA:66631
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Arrhythmia, Oligohydramnios, Abnormal aortic valve morphology, Abnormal pulmonary valve morpholog... ORPHA:1194
Muscular Dystrophy, Duchenne Type
Arrhythmia, Cardiomyopathy, Congestive heart failure, Dilated cardiomyopathy, Abnormal EKG OMIM:310200
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556037
American Trypanosomiasis
Arrhythmia, Achalasia, Congestive heart failure, Edema, Myocarditis, Periorbital edema, Cardiomyo... ORPHA:3386
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Congestive heart failure, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:212140
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Intermittent claudication, Angina pectoris, Restrictive cardiomyopat... OMIM:264800
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Pulmonary edema, Prolonged QTc interval, Syncope, Cardiogenic shock, Decr... ORPHA:66529
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy ORPHA:1349
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Wild Type Abeta2M Amyloidosis
Congestive heart failure, Gastrointestinal hemorrhage, Arrhythmia ORPHA:85446
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgE, Hypoplasia of the thymus, Agammaglobulinemia, Decreased circulating Ig... OMIM:300400
Refsum Disease, Classic
Congestive heart failure, Cardiomegaly, Cardiomyopathy, Arrhythmia OMIM:266500
Hemochromatosis, Type 1
Arrhythmia, Pleural effusion, Congestive heart failure, Cardiomegaly, Ascites, Telangiectasia, Ca... OMIM:235200
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Abnormal atrioventricular valve morphology, Tricuspid regurgitation, Aortic valve... ORPHA:324410
Pericardial Effusion, Chronic
Pericardial effusion, Constrictive pericarditis OMIM:260900
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:859
Polymyositis
Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Abnormal mitral valve morphology, Myocardi... ORPHA:732
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Heart murmur, Congestive heart failure, Edema, Bacterial endocarditis ORPHA:1054
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia OMIM:264350
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hyponatremia OMIM:618426
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest... OMIM:171420
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:556030
Acquired Aneurysmal Subarachnoid Hemorrhage
Ischemic stroke, ST segment depression, Hypertension, Myocardial infarction, Cerebral hemorrhage,... ORPHA:90065
Lymphatic Malformation 8
Polyhydramnios, Stillbirth, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Ge... OMIM:618773
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Polyhydramnios, Congestive heart failure, Atrial septal defect ORPHA:500533
Mitochondrial Complex I Deficiency, Nuclear Type 20
Dilated cardiomyopathy, Congestive heart failure, Cerebral edema, Hypertrophic cardiomyopathy OMIM:611126
Combined Oxidative Phosphorylation Defect Type 23
Severely reduced ejection fraction, Wolff-Parkinson-White syndrome, Congestive heart failure, Rig... ORPHA:444013
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgM level, Increased circulating IgA level, Increased circulating IgG level... OMIM:601859
Neurodegeneration, Infantile-Onset, Biotin-Responsive
Decreased circulating IgG level OMIM:618973
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Kimura Disease
Abnormal salivary gland morphology, Increased circulating IgE level ORPHA:482
Maternal Uniparental Disomy Of Chromosome X
Congestive heart failure, Predominantly lower limb lymphedema ORPHA:261519
Fabry Disease
Arrhythmia, Angina pectoris, Lymphedema, Hypertension, Myocardial infarction, Congestive heart fa... OMIM:301500
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Increased circulating IgM level, Aplasia of the eccrine sweat gla... OMIM:300291
Central Diabetes Insipidus
Hyponatremia ORPHA:178029
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Hutchinson-Gilford Progeria Syndrome
Angina pectoris, Myocardial infarction, Congestive heart failure OMIM:176670
Immune-Mediated Necrotizing Myopathy
Palpitations, Congestive heart failure, Raynaud phenomenon, Myocarditis ORPHA:206569
Non-Functioning Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:94080
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia OMIM:214700
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Classic Multiminicore Myopathy
Mitral valve prolapse, Congestive heart failure, Right ventricular failure, Right ventricular hyp... ORPHA:324604
Liddle Syndrome 3
Hypokalemia OMIM:618126
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Gonadal dysgenesis, Decreased circulating IgG level, Decreased c... OMIM:611926
Babesiosis
Myocardial infarction, Congestive heart failure ORPHA:108
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Graves Disease, Susceptibility To, 1
Congestive heart failure OMIM:275000
Capillary Malformation-Arteriovenous Malformation
Abnormal bleeding, Abnormal heart morphology, Lymphedema, Epistaxis, Chylothorax, Congestive hear... ORPHA:137667
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Polyhydramnios, Congestive heart failure, Ascites, Nonimmune hydrops fetalis, Dilated cardiomyopa... ORPHA:367
Hyperkalemic Periodic Paralysis
Elevated circulating creatine kinase concentration, Hypokalemia, Hyponatremia, Hyperkalemia ORPHA:682
Drug-Induced Autoimmune Hemolytic Anemia
Congestive heart failure, Tachycardia ORPHA:90037
Hydrops Fetalis
Polyhydramnios, Arrhythmia, Abnormal heart morphology, Lymphedema, Pleural effusion, Pericardial ... ORPHA:1041
Congenital Isolated Acth Deficiency
Hyponatremia ORPHA:199296
Nephrosialidosis
Pericardial effusion, Ascites OMIM:256150
Acyl-Coa Dehydrogenase 9 Deficiency
Cerebellar hemorrhage, Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, Ce... ORPHA:99901
Osteogenesis Imperfecta, Type Ii
Pulmonary insufficiency, Congestive heart failure, Nonimmune hydrops fetalis OMIM:166210
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level OMIM:247800
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia ORPHA:91354
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level OMIM:312863
Chronic Thromboembolic Pulmonary Hypertension
Palpitations, Right ventricular failure, Cardiac shunt, Increased pulmonary vascular resistance, ... ORPHA:70591
Eosinophilic Granulomatosis With Polyangiitis
Endocarditis, Purpura, Abnormal pericardium morphology, Recurrent intrapulmonary hemorrhage, Hype... ORPHA:183
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Pulmonary insufficiency, Heart murmur, Congestive heart failure, Double out... ORPHA:2326
Immunodeficiency 14A, Autosomal Dominant
Increased circulating IgM level, Decreased circulating IgG2 level, Decreased specific pneumococca... OMIM:615513
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Increased circulating IgE level OMIM:615767
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Congestive heart failure, Cardiomyopathy ORPHA:52430
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:171876
Primary Lipodystrophy
Angina pectoris, Hypertension, Congestive heart failure, Cardiomyopathy ORPHA:90970
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Ventricular septal defect, Aortopulmonary window, Left ventricular outflow ... ORPHA:99050
Primary Effusion Lymphoma
Pleural effusion, Pericardial effusion ORPHA:48686
Carney Complex, Type 1
Congestive heart failure, Cardiac myxoma OMIM:160980
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Congestive heart failure ORPHA:3077
Autoimmune Hemolytic Anemia
Arrhythmia, Congestive heart failure ORPHA:98375
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Hyponatremia, Hyperuricemia OMIM:613845
Friedreich Ataxia
Abnormal EKG, Abnormal echocardiogram, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:229300
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Spontaneous he... ORPHA:774
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia ORPHA:83601
Scimitar Syndrome
Anomalous pulmonary venous return, Tricuspid atresia, Truncus arteriosus, Single ventricle, Atria... ORPHA:185
Gm1-Gangliosidosis, Type I
Hydrops fetalis, Abnormal heart valve morphology, Congestive heart failure, Dilated cardiomyopath... OMIM:230500
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating antibody level OMIM:618495
Mental Retardation, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Colchicine Poisoning
Hypophosphatemia, Hypocalcemia, Hyponatremia, Abnormal blood ion concentration, Hypokalemia, Hypo... ORPHA:31824
Hartsfield Syndrome
Hypernatremia OMIM:615465
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgG ... ORPHA:169154
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Immunodeficiency 27A
Increased circulating IgG level, Increased circulating IgM level OMIM:209950
Hereditary Coproporphyria
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79273
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level OMIM:314000
Porphyria Due To Ala Dehydratase Deficiency
Hyponatremia, Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin ... ORPHA:100924
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Oligohydramnios, Secundum atrial septal defect, Congestive heart failure, Patent foramen ovale, C... OMIM:616866
Amoebiasis Due To Entamoeba Histolytica
Constrictive pericarditis, Pleural effusion, Abnormal pericardium morphology, Pleural empyema, Co... ORPHA:67
Microscopic Polyangiitis
Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Vascu... ORPHA:727
Pancreatic insufficiency, combined exocrine
Congestive heart failure, Anasarca OMIM:260450
Lymphatic Malformation 7
Atrial septal defect, Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fe... OMIM:617300
Congenital Tricuspid Valve Dysplasia
Abnormal tricuspid valve leaflet morphology, Anomalous pulmonary venous return, Pericardial effus... ORPHA:555874
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Mitochondrial Trifunctional Protein Deficiency
Dilated cardiomyopathy, Congestive heart failure, Hydrops fetalis, Arrhythmia OMIM:609015
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Hypoplasia of the thymus, Reduc... OMIM:617241
Immunodeficiency 70
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619281
Spinal Arteriovenous Metameric Syndrome
Congestive heart failure ORPHA:53721
Symptomatic Form Of Hemochromatosis Type 1
Arrhythmia, Joint swelling, Elevated jugular venous pressure, Congestive heart failure, Cardiomeg... ORPHA:465508
Igg4-Related Submandibular Gland Disease
Prostatitis, Enlarged lacrimal glands, Increased circulating IgE level, Sialadenitis, Increased c... ORPHA:449432
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hyperchloriduria, Hypochloremia OMIM:613090
Mitochondrial Trifunctional Protein Deficiency
Arrhythmia, Tricuspid regurgitation, Congestive heart failure, Left ventricular hypertrophy, Mitr... ORPHA:746
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:427
Herpes Simplex Virus Encephalitis
Hyponatremia, Elevated circulating C-reactive protein concentration ORPHA:1930
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Congestive heart failure, Cardiomegaly, Cardiomyopathy OMIM:619259
Igg4-Related Aortitis
Increased circulating antibody level, Complement deficiency, Increased circulating IgE level, Inc... ORPHA:449400
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Congestive heart failure ORPHA:137608
Snakebite Envenomation
Hyponatremia ORPHA:449285
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgM level, Increased circulating IgA level, Increased circulating IgG level... OMIM:603909
Aarskog-Scott Syndrome
Congestive heart failure ORPHA:915
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, Impaired T cell function, Decreased circulating IgG level, Decre... OMIM:607594
Immunodeficiency, Common Variable, 2
Impaired T cell function, Decreased circulating IgG level, Decreased circulating IgA level, Parti... OMIM:240500
Familial Partial Lipodystrophy, Dunnigan Type
Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:2348
Pheochromocytoma
Positive regitine blocking test, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Congest... OMIM:171300
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Increased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre... ORPHA:276
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Tachycardia ORPHA:90033
African Iron Overload
Congestive heart failure, Abnormal heart morphology ORPHA:139507
Diarrhea 10, Protein-Losing Enteropathy Type
Hypocalcemia, Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypomagnesemia OMIM:618183
Fabry Disease
Conjunctival telangiectasia, Arrhythmia, Bundle branch block, Abnormal myocardium morphology, Ang... ORPHA:324
Congenital Generalized Lipodystrophy
Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:528
Pparg-Related Familial Partial Lipodystrophy
Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy ORPHA:79083
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Intracranial hemorrhage, Mitral valve calcification, Hypertension, Aorti... ORPHA:363618
Myotonic Dystrophy 2
Oligospermia, Elevated circulating follicle stimulating hormone level, Decreased circulating tota... OMIM:602668
Histiocytoid Cardiomyopathy
Ventricular septal defect, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, V... ORPHA:137675
Yellow Fever
Arrhythmia, Gastrointestinal hemorrhage, Hypotension, Dehydration, Congestive heart failure ORPHA:99829
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Elevated circulating luteinizing hormone level, Blind vagina, Aplasia of the... ORPHA:90797
Sporadic Pheochromocytoma/Secreting Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:276621
Cutis Laxa, Autosomal Recessive, Type Iid
Atrial septal defect, Congestive heart failure, Right bundle branch block, Hypertrophic cardiomyo... OMIM:617403
Acquired Idiopathic Sideroblastic Anemia
Abnormal bleeding, Congestive heart failure ORPHA:75564
Diffuse Cutaneous Systemic Sclerosis
Hypertensive crisis, Telangiectasia of the skin, Xerostomia, Congestive heart failure, Pulmonary ... ORPHA:220393
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Purpura, Pleural effusion, Pedal edema, Epistaxis, Congestive heart ... ORPHA:33226
Tubular Renal Disease-Cardiomyopathy Syndrome
Pericardial effusion, Sudden cardiac death, Congestive heart failure, Pulmonary edema, Dilated ca... ORPHA:73224
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Immunodeficiency, Common Variable, 6
Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r... OMIM:613496
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Pulmonary arterial hypertension, Congestive heart failure OMIM:616482
Pediatric-Onset Graves Disease
Palpitations, Oligohydramnios, Sinus tachycardia, Atrial fibrillation, Hypertension, Congestive h... ORPHA:525731
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Multiple Acyl-Coa Dehydrogenase Deficiency
Congestive heart failure, Abnormal heart morphology, Cardiomyopathy, Arrhythmia ORPHA:26791
Martsolf Syndrome 1
Congestive heart failure, Cardiac arrest, Cardiomyopathy OMIM:212720
Boutonneuse Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:83313
Chromosome 18Q Deletion Syndrome
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Congestive heart failure,... OMIM:601808
Immunodeficiency 60
Decreased circulating IgE, Decreased circulating total IgM, Decreased circulating IgG level, Decr... OMIM:618394
Liddle Syndrome 2
Decreased circulating renin level, Hypokalemia OMIM:618114
Leigh Syndrome With Cardiomyopathy
Cardiac conduction abnormality, Pulmonic stenosis, Congestive heart failure, Dilated cardiomyopat... ORPHA:70474
Cholera
Hypocalcemia, Hypokalemia, Hyponatremia, Abnormal blood ion concentration ORPHA:173
Lymphoproliferative Syndrome, X-Linked, 1
Increased circulating IgM level, Decreased circulating antibody level, Dysgammaglobulinemia, Decr... OMIM:308240
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, De... OMIM:308230
Adrenal Hypoplasia, Congenital
Hyponatremia OMIM:300200
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Angiostrongyliasis
Increased circulating IgG level, Increased circulating IgM level, Increased circulating specific ... ORPHA:74
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hyperchloriduria, Hypochloremia OMIM:602522
Wolcott-Rallison Syndrome
Hyperammonemia, Hyperbilirubinemia, Hyponatremia, Hypoalbuminemia ORPHA:1667
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular outflow tract obstruction, Heart murmur, Shortened PR interval, Cardiomegaly, Le... ORPHA:308552
Gm1 Gangliosidosis
Hydrops fetalis, Ventricular septal defect, Abnormal heart morphology, Congestive heart failure, ... ORPHA:354
Candidiasis, Familial, 2
Increased circulating IgE level OMIM:212050
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Congestive heart failure, Cerebral edema, Left ventricular hypertrophy OMIM:619355
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgG level, Increased circulating IgA level OMIM:617388
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hyponat... OMIM:603553
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level OMIM:615285
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Atrial septal defect, Patent foramen ovale, Abnormal heart morphology, Tricuspid regurgitation, C... ORPHA:505248
Infant Botulism
Hyponatremia ORPHA:178478
Mucopolysaccharidosis-Plus Syndrome
Atrial septal defect, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:617303
Mucopolysaccharidosis, Type Ii
Abnormal heart valve morphology, Congestive heart failure OMIM:309900
Multiple Benign Circumferential Skin Creases On Limbs
Congestive heart failure, Edema ORPHA:2505
Friedreich Ataxia And Congenital Glaucoma
Abnormal echocardiogram, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Muscul... OMIM:229310
Necrotizing Enterocolitis
Hyponatremia ORPHA:391673
Monosomy 18Q
Secundum atrial septal defect, Left-to-right shunt, Dysplastic pulmonary valve, Aortic valve sten... ORPHA:1600
Scorpion Envenomation
Cardiogenic shock, Arrhythmia, Bundle branch block, Cardiac conduction abnormality, Purpura, T-wa... ORPHA:466677
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level OMIM:251190
Schimke Immuno-Osseous Dysplasia
Ischemic stroke, Hypertension, Congestive heart failure, Cerebral ischemia, Pulmonary arterial hy... ORPHA:1830
Mirage Syndrome
Hyperkalemia, Hyponatremia OMIM:617053
Legionnaires Disease
Hyponatremia ORPHA:549
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Hypouricemia, Elevated circulating creatinine concentration, Hypo... ORPHA:411634
Triglyceride Deposit Cardiomyovasculopathy
Palpitations, Arrhythmia, Coronary artery stenosis, Angina pectoris, Low-output congestive heart ... ORPHA:565612
Ethylene Glycol Poisoning
Hypotension, Atrial fibrillation, Hypertension, Congestive heart failure, Tachycardia, Prolonged ... ORPHA:31826
Arterial Tortuosity Syndrome
Hypertension, Telangiectasia of the skin, Myocardial infarction, Congestive heart failure, Cardia... ORPHA:3342
Porphyria Variegata
Hyponatremia, Abnormal circulating porphyrin concentration ORPHA:79473
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Restrictive cardiomyopathy, Pericardial effusion, Endocardial fibroelastosis, Right atrial enlarg... OMIM:619313
Alstrom Syndrome
Dilated cardiomyopathy, Congestive heart failure, Hypertension OMIM:203800
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyperkalemia, Hyponatremia, Increased circulating renin level ORPHA:90791
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Friedreich Ataxia 2
Abnormal echocardiogram, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Muscul... OMIM:601992
Lymphangiectasia, Intestinal
Decreased circulating IgG level OMIM:152800
Vici Syndrome
Dilated cardiomyopathy, Congestive heart failure, Left ventricular hypertrophy, Cardiomyopathy OMIM:242840
Congenital Disorder Of Glycosylation, Type Iie
Congestive heart failure, Abnormal heart morphology OMIM:608779
Whipple Disease
Hyponatremia ORPHA:3452
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia ORPHA:361
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Ventricular arrhythmia, Supraventricular arrhythmia, Abnormal atrioventricular conduction, Conges... ORPHA:280365
Mucopolysaccharidosis Type 1
Abnormal heart valve morphology, Congestive heart failure, Abnormal aortic valve morphology, Hype... ORPHA:579
Pulmonary Capillary Hemangiomatosis
Right ventricular failure, Elevated pulmonary artery pressure, Pleural effusion, Hemothorax, Peri... ORPHA:199241
Tetrasomy 5P
Pulmonary arterial hypertension, Heart murmur, Congestive heart failure ORPHA:3309
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Lack of T cell function, Increased circulating IgE level ORPHA:277
Hereditary Pheochromocytoma-Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:29072
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Palpebral edema, Heart murmur, Congestive heart failure, Cardiomegaly, Hype... OMIM:252500
Malignant Hyperthermia Of Anesthesia
Ventricular extrasystoles, Ventricular tachycardia, Cardiomyocyte mitochondrial proliferation, Su... ORPHA:423
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Hyperkalemia, Hyponatremia ORPHA:90790
Immunodeficiency 43
Decreased circulating IgG level OMIM:241600
Acute Adrenal Insufficiency
Hyponatremia, Hyperuricemia, Increased circulating renin level, Hypercalcemia, Hyperkalemia ORPHA:95409
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypercalcemia, Hyperuricemia ORPHA:199299
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating antibody level, Decreased circulating IgG level, Decreased circulating IgA ... OMIM:617062
Angioosteohypertrophic Syndrome
Gastrointestinal hemorrhage, Lymphedema, Telangiectasia of the skin, Pulmonary embolism, Congesti... ORPHA:2346
Erdheim-Chester Disease
Joint swelling, Pleural effusion, Abnormal aortic valve morphology, Abnormal pericardium morpholo... ORPHA:35687
Mu-Heavy Chain Disease
Increased circulating antibody level ORPHA:100024
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level OMIM:178610
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Abnormal bleeding, Congestive heart failure, Arterial rupture, Mitral valve prolapse, Bruising su... ORPHA:1900
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level OMIM:202700
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgG level, Increased circulating IgA level OMIM:615934
Seckel Syndrome 10
Congestive heart failure, Ventricular hypertrophy, Hypertension OMIM:617253
Immunodeficiency 23
Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgM level OMIM:615816
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating antibody level OMIM:618048
Urban-Rogers-Meyer Syndrome
Cryptorchidism, Hypogonadism, Increased circulating IgE level, Hypoplasia of penis ORPHA:3409
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased circulating IgG level, Decreased lymphocyte proli... ORPHA:169160
Autoimmune Hepatitis
Increased circulating antibody level, Increased circulating IgG level ORPHA:2137
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgE level, Abnormal serum interleukin level, Decreased specific anti-polysa... ORPHA:3261
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Ischemic stroke, Lip telangiectasia, Spontaneous, recurrent epistaxi... OMIM:610655
Pulmonary Fibrosis, Idiopathic
Increased circulating antibody level OMIM:178500
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Pericardial ef... ORPHA:26793
Idiopathic Hypereosinophilic Syndrome
Joint swelling, Supraventricular arrhythmia, Intracranial hemorrhage, Pleural effusion, Vasculiti... ORPHA:3260
Kawasaki Disease
Arrhythmia, Pericarditis, Abnormal heart valve morphology, Congestive heart failure, Edema, Doubl... ORPHA:2331
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Congestive heart failure, Noncompaction cardiomyopathy, Tricuspid regurgitation ORPHA:508542
Autoimmune Lymphoproliferative Syndrome, Type V
Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating IgG ... OMIM:616100
Adenohypophysitis
Hyponatremia ORPHA:95512
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Elevated circulating creatinine concentration, Hypokalemia, Hyponatremia, Unconjugated hyperbilir... ORPHA:90038
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:615577
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased serum complement C3, Increased circulating antibody level, Decreased serum complement C... OMIM:615559
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia ORPHA:293978
Immunodeficiency 67
Increased circulating IgE level OMIM:607676
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Avian Influenza
Pleural effusion, Congestive heart failure ORPHA:454836
Pituitary Apoplexy
Hyponatremia ORPHA:95613
Geleophysic Dysplasia 1
Tricuspid stenosis, Aortic valve stenosis, Congestive heart failure, Mitral stenosis OMIM:231050
Panhypophysitis
Hyponatremia ORPHA:95513
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Decreased lymphocyte apoptosis OMIM:614470
Addison Disease
Hyponatremia, Hyperuricemia, Increased circulating renin level, Hypercalcemia, Hyperkalemia ORPHA:85138
Shigellosis
Hyponatremia, Abnormal blood ion concentration ORPHA:810
Werner Syndrome
Myocardial infarction, Congestive heart failure, Hypertension, Telangiectasia of the skin ORPHA:902
Chilblain Lupus
Increased circulating antibody level ORPHA:90280
Leigh Syndrome
Ventricular septal defect, Congestive heart failure, Hypertrophic cardiomyopathy ORPHA:506
Pgm3-Cdg
Increased circulating IgE level, Increased circulating IgG level, Increased circulating IgA level... ORPHA:443811
Triosephosphate Isomerase Deficiency
Congestive heart failure OMIM:615512
Familial Dysautonomia
Hyponatremia ORPHA:1764
Autosomal Recessive Cutis Laxa Type 1
Supravalvular aortic stenosis, Abnormal cardiac ventricular function, Congestive heart failure, D... ORPHA:90349
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Congestive heart failure, Bruising susceptibility, Gastrointestinal hemorrhage, Arterial rupture OMIM:225400
Tsh-Secreting Pituitary Adenoma
Ventricular arrhythmia, Palpitations, Supraventricular arrhythmia, Hypotension, Pericardial effus... ORPHA:91347
Japanese Encephalitis
Hyponatremia ORPHA:79139
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Decreased serum complement factor B, Abnormal salivary gland morphology, Polycy... ORPHA:2298
Autosomal Dominant Hypocalcemia
Hypotension, Congestive heart failure, Arrhythmia ORPHA:428
Igg4-Related Kidney Disease
Prostatitis, Increased circulating IgG1 level, Increased circulating IgE level, Sialadenitis, Abn... ORPHA:449395
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Ventricular septal defect, Pericardial effusion, Bradycardia, Hypertrophic cardiomyopathy OMIM:618775
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Decreased lymphocyte proli... ORPHA:331206
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia, Hyponatremia ORPHA:167
Acute Intermittent Porphyria
Hyponatremia ORPHA:79276
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hyperkalemia, Hyponatremia, Abnormal circulating cholesterol concentration, Increased circulating... ORPHA:168558
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Atrial septal defect, Right ventricular fail... ORPHA:99125
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hyperkalemia, Hyponatremia, Abnormal circulating cholesterol concentration, Increased circulating... ORPHA:289548
Weill-Marchesani Syndrome 2
Ventricular septal defect, Pulmonic stenosis, Aortic valve stenosis, Congestive heart failure, Mi... OMIM:608328
Sheehan Syndrome
Hyponatremia ORPHA:91355
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level OMIM:600351
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Abnormal echocardiogram, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Muscul... OMIM:302900
Aceruloplasminemia
Congestive heart failure ORPHA:48818
Caffey Disease
Increased circulating antibody level ORPHA:1310
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Increased circulating renin level, Hypokalemia, Hypochloremia, Hypomagnesemia ORPHA:89938
Bloom Syndrome
Cryptorchidism, Azoospermia, Decreased circulating IgA level, Decreased circulating total IgM, De... OMIM:210900
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgE level, Defective T cell proliferation, Anoperineal fistula, Decreased T... OMIM:618213
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Pleural effusion, Pericardial effusion, Granulomatous coronary arteritis, Hypertension OMIM:108050
Abetalipoproteinemia
Abnormal bleeding, Congestive heart failure, Cardiomegaly, Prolonged prothrombin time ORPHA:14
Lysosomal Acid Lipase Deficiency
Hyperkalemia, Hypercholesterolemia, Hyponatremia, Hypertriglyceridemia ORPHA:275761
Aicardi-Goutieres Syndrome 7
Increased circulating antibody level OMIM:615846
Holoprosencephaly
Hyponatremia ORPHA:2162
Hepatocellular Carcinoma
Hyperbilirubinemia, Hyponatremia, Hypokalemia, Hypercalcemia, Hypoalbuminemia ORPHA:88673
Incontinentia Pigmenti
Telangiectasia of the skin, Congestive heart failure, Cerebral ischemia, Pulmonary arterial hyper... ORPHA:464
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:275350
Multiple Myeloma
Decreased circulating antibody level, Increased circulating IgG level, Increased circulating IgA ... ORPHA:29073
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Pulmonary arterial hypertension, Congestive heart failure, Renovascular hypertension, Patent fora... ORPHA:391487
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Lip telangiectasia, Melena, Cerebral hemorrhage, High-output congest... OMIM:187300
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Abnormality of the ductus choledochus, Increased circulating IgM... ORPHA:562639
Diamond-Blackfan Anemia 1
Atrial septal defect, Tricuspid stenosis, Congestive heart failure, Ventricular septal defect OMIM:105650
Ataxia-Telangiectasia
Defective B cell differentiation, Decreased circulating IgG2 level, Female hypogonadism, Hypoplas... OMIM:208900
Infection-Related Hemolytic Uremic Syndrome
Hyperkalemia, Hypocalcemia, Hyponatremia ORPHA:544482
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
Listeriosis
Endocarditis, Arteritis, Pericarditis, Congestive heart failure, Myocarditis ORPHA:533
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypoammonemia, Hypercholesterolemia, Hyponatremia, Hypokalemia ORPHA:534
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Arrhythmia, High-output congestive heart failure ORPHA:231226
Netherton Syndrome
Decreased circulating IgG level, Increased circulating IgE level OMIM:256500
Marfan Syndrome
Aortic regurgitation, Tricuspid regurgitation, Congestive heart failure, Tricuspid valve prolapse... OMIM:154700
Neutral Lipid Storage Myopathy
Congestive heart failure, Cardiomyopathy ORPHA:98908
Primary Sclerosing Cholangitis
Spider hemangioma, Pleural effusion, Congestive heart failure, Palmar telangiectasia, Ascites, Po... ORPHA:171
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Partial IgA deficiency, Lack of T cell function, Rectovaginal fistula, Decreased lymphocyte proli... ORPHA:35078
Tick-Borne Encephalitis
Increased circulating IgG level, Abnormality of serum cytokine level, Increased circulating IgM l... ORPHA:297
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Aplasia of the ovary, Breast hypoplasia... ORPHA:2232
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased circulating IgA level ORPHA:275
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Patent foramen ovale, Ventricular septal defect, Abnormal heart morphology, Congestive heart fail... ORPHA:444077
Coccidioidomycosis
Increased circulating IgM level, Abnormal sperm morphology, Increased circulating IgG level, Abno... ORPHA:228123
Spinocerebellar Ataxia Type 7
Congestive heart failure ORPHA:94147
Proteasome-Associated Autoinflammatory Syndrome 1
Epididymitis, Increased serum interferon-gamma level, Increased circulating antibody level, Eleva... OMIM:256040
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Aplasia of the thymus, Increased circulating IgE level, Decreased circulating IgG2 level, Absent ... OMIM:102700
Beta-Thalassemia Intermedia
Pulmonary arterial hypertension, High-output congestive heart failure ORPHA:231222
Cystinosis, Nephropathic
Decreased plasma carnitine, Hypophosphatemic rickets, Hyponatremia OMIM:219800
Beta-Thalassemia Major
Dilated cardiomyopathy, Arrhythmia, High-output congestive heart failure ORPHA:231214
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased lymphocyte proliferation in response to anti-CD3, Decreased circulating IgG level, Part... OMIM:618986
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level ORPHA:69126
Vici Syndrome
Decreased circulating IgG level, Decreased circulating IgG2 level ORPHA:1493
Williams Syndrome
Abnormal endocardium morphology, Mitral regurgitation, Increased nuchal translucency, Cerebral is... ORPHA:904
Hallermann-Streiff Syndrome
Congestive heart failure ORPHA:2108
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Marfan Syndrome
Mitral valve calcification, Mitral valve prolapse, Congestive heart failure ORPHA:558
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Hyperlipidemia ORPHA:293987
Igg4-Related Ophthalmic Disease
Prostatitis, Enlarged lacrimal glands, Increased circulating IgE level, Sialadenitis, Abnormality... ORPHA:449563
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Increased serum bile acid concentration ORPHA:731
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Decreased circulating IgG level OMIM:608809
Carney Complex
Congestive heart failure, Cardiac myxoma, Hypertension associated with pheochromocytoma ORPHA:1359
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level OMIM:313900
Igg4-Related Pachymeningitis
Complement deficiency, Increased circulating IgG4 level, Parotitis ORPHA:449427
Lymphoproliferative Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level OMIM:613011
Singleton-Merten Syndrome 1
Mitral valve calcification, Aortic valve stenosis, Congestive heart failure, Cardiomegaly, Aortic... OMIM:182250
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyperkalemia, Hyponatremia, Hypochloremia ORPHA:90794
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c... OMIM:614700
Tularemia
Increased circulating antibody level ORPHA:3392
African Trypanosomiasis
Arrhythmia, Pericarditis, Congestive heart failure, Third degree atrioventricular block, Second d... ORPHA:3385
Leishmaniasis
Increased circulating antibody level ORPHA:507
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c... ORPHA:221139
Parkes Weber Syndrome
Subarachnoid hemorrhage, Abnormal bleeding, Bounding pulse, High-output congestive heart failure ORPHA:90307
Congenital Disorder Of Glycosylation, Type Ia
Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Decreased circulating IgG level,... OMIM:212065
Pyoderma Gangrenosum
Increased circulating antibody level ORPHA:48104
Say-Barber-Miller Syndrome
Cryptorchidism, Decreased circulating antibody level, Impaired neutrophil chemotaxis, Hypogonadis... ORPHA:3132
Brucellosis
Epididymitis, Increased circulating IgG level, Orchitis, Increased circulating IgM level ORPHA:1304
Atypical Werner Syndrome
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