Gene: Xiap MGI:107572

Gene Summary

Name:

X-linked inhibitor of apoptosis

Synonyms:

Api3, IAP3, ILP-1, Birc4, 1110015C02Rik, Aipa

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.

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
increased IgG1 level		Xiap^{tm1a(EUCOMM)Hmgu}	HOM		Early adult	2.19×10^-05
absent testes		Xiap^{tm1a(EUCOMM)Hmgu}	HOM		Early adult	3.83×10^-11

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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.

Human diseases associated with Xiap (1 diseases)
Human diseases predicted to be associated with Xiap (512 diseases)

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	Matching phenotypes	Source
Cardiomyopathy, Dilated, 1M	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, End...	OMIM:607482
Cardiomyopathy, Dilated, 2A	Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Myofiber disarray, I...	OMIM:611880
Cardiomyopathy, Dilated, 1Ee	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en...	OMIM:613252
Cardiomyopathy, Familial Hypertrophic, 15	Apical hypertrophic cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic ...	OMIM:613255
Cardiomyopathy, Dilated, 1Ff	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventr...	OMIM:613286
Cardiomyopathy, Dilated, 1Dd	Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h...	OMIM:613172
Cardiomyopathy, Dilated, 1L	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Inc...	OMIM:606685
Cardiomyopathy, Dilated, 1Hh	Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure	OMIM:613881
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car...	OMIM:604765
Cardiomyopathy, Dilated, 1P	Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure	OMIM:609909
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no...	OMIM:613424
Cardiac Lipidosis, Familial	Cardiomyopathy, Congestive heart failure	OMIM:212080
Cardiomyopathy, Dilated, 1J	Abnormal left ventricular function, Dilated cardiomyopathy, Sudden cardiac death, Congestive hear...	OMIM:605362
Cardiomyopathy, Dilated, 1Z	Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure	OMIM:611879
Left Ventricular Noncompaction 10	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon...	OMIM:615396
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
Retinal Telangiectasia And Hypogammaglobulinemia	Reduced delayed hypersensitivity, Decreased circulating IgG level	OMIM:267900
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa...	OMIM:601493
Cardiomyopathy, Dilated, 1K	Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure	OMIM:605582
Cardiomyopathy, Dilated, 1B	Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea...	OMIM:600884
Left Ventricular Noncompaction 8	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:615373
Cardiomyopathy, Dilated, 1Gg	Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti...	OMIM:613642
Cardiomyopathy, Dilated, 1U	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:613694
Cardiomyopathy, Dilated, 1Bb	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:612877
Cardiomyopathy, Familial Hypertrophic, 1	Asymmetric septal hypertrophy, Arrhythmia, Subvalvular aortic stenosis, Congestive heart failure	OMIM:192600
Cardiomyopathy, Dilated, 2B	Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti...	OMIM:614672
Cardiomyopathy, Dilated, 2J	Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Secundum atrial sept...	OMIM:620635
Carvajal Syndrome	Dilated cardiomyopathy, Congestive heart failure	ORPHA:65282
Cardiomyopathy, Dilated, 1Kk	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati...	OMIM:615248
Cardiomyopathy, Dilated, 1O	Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he...	OMIM:608569
Cardiomyopathy, Familial Hypertrophic, 8	Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy...	OMIM:608751
Cardiomyopathy, Dilated, 1Oo	Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l...	OMIM:620247
Cardiomyopathy, Dilated, 1V	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef...	OMIM:613697
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	OMIM:613251
Long Qt Syndrome 13	Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced...	OMIM:613485
Immunodeficiency 86	Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level	OMIM:619549
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi...	ORPHA:45453
Left Ventricular Noncompaction 1	Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula...	OMIM:604169
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ...	OMIM:604400
Cardiomyopathy, Dilated, 1G	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula...	OMIM:604145
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb...	OMIM:608106
Immune Deficiency, Familial Variable	Decreased circulating IgG level, Decreased circulating IgA level	OMIM:146830
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo...	OMIM:618052
Immunodeficiency 24	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:615897
Cardiomyopathy, Dilated, 2F	Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac...	OMIM:619747
Cardiomyopathy, Dilated, 1A	Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov...	OMIM:115200
Congenital Heart Defects, Multiple Types, 2	Aortic valve stenosis, Aortic regurgitation, Myxomatous mitral valve degeneration, Congestive hea...	OMIM:614980
Loeffler Endocarditis	Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Endocardial fibrosis, Co...	ORPHA:75566
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m...	ORPHA:1345
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev...	OMIM:606843
Cardiomyopathy, Dilated, 1Nn	Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit...	OMIM:615916
Cardiomyopathy, Familial Hypertrophic, 11	Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop...	OMIM:612098
Familial Cutaneous Collagenoma	Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure	ORPHA:53296
Familial Isolated Dilated Cardiomyopathy	Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Arrhythm...	ORPHA:154
Immunoerythromyeloid Hypoplasia	Decreased circulating IgG level	OMIM:242880
Familial Progressive Cardiac Conduction Defect	Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Heart block	ORPHA:871
Mitochondrial Complex I Deficiency, Nuclear Type 30	Neonatal death, Congestive heart failure	OMIM:301021
Sudden Cardiac Failure, Infantile	Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d...	OMIM:617222
Hydrops Fetalis, Nonimmune	Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure	OMIM:236750
Aorto-Ventricular Tunnel	Abnormal heart valve morphology, Heart murmur, Ventricular hypertrophy, Congestive heart failure	ORPHA:3400
Congenital Heart Block	Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block...	ORPHA:60041
Cardiomyopathy, Familial Hypertrophic, 26	Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca...	OMIM:617047
Coronary Arterial Fistula	Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria...	ORPHA:2041
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Myofiber disarray, Pulmonary edema, Left bundle branch block, Right atri...	OMIM:115197
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Atrial fibrillation, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter, Congestive heart f...	ORPHA:300751
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Tricuspid regurgitation, Ascites, Pleural effusion, Pulmonary arterial ...	ORPHA:2414
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level	OMIM:235550
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnorm...	ORPHA:1055
Isolated Right Ventricular Hypoplasia	Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le...	ORPHA:439
Familial Atrial Myxoma	Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,...	ORPHA:615
Cardiomyopathy, Familial Hypertrophic, 6	Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card...	OMIM:600858
Atrial Standstill	Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Left ventricular no...	ORPHA:1344
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent...	OMIM:601494
Endocardial Fibroelastosis	Endocardial fibroelastosis, Restrictive cardiomyopathy, Congestive heart failure	ORPHA:2022
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Atrial Septal Defect, Sinus Venosus Type	Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ...	ORPHA:99105
Combined Oxidative Phosphorylation Deficiency 23	Hypertrophic cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure	OMIM:616198
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Fixed Subaortic Stenosis	Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Paroxysmal atrial fibrill...	ORPHA:3092
Combined Oxidative Phosphorylation Deficiency 8	Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction...	OMIM:614096
Hereditary Butyrylcholinesterase Deficiency	Myocardial infarction, Congestive heart failure	ORPHA:132
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C...	OMIM:616117
Congenital Gerbode Defect	Bacterial endocarditis, Elevated right atrial pressure, Pedal edema, Right ventricular failure, H...	ORPHA:99095
Combined Oxidative Phosphorylation Deficiency 17	Hypertrophic cardiomyopathy, Congestive heart failure	OMIM:615440
Immunodeficiency 95	Decreased circulating IgG3 level, Increased circulating IgG3 level	OMIM:619773
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes	Decreased circulating IgG level	OMIM:242870
Arterial Calcification, Generalized, Of Infancy, 2	Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regurgitation, Reduced ...	OMIM:614473
Lymphoma, Hodgkin, Classic	Polyclonal elevation of IgM	OMIM:236000
Cardiac Valvular Dysplasia, X-Linked	Aortic regurgitation, Congestive heart failure, Tricuspid regurgitation, Short chordae tendineae ...	OMIM:314400
Attrv122I Amyloidosis	Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti...	ORPHA:85451
Cardiomyopathy, Dilated, 1Y	Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ...	OMIM:611878
Ebstein Malformation Of The Tricuspid Valve	Ebstein anomaly of the tricuspid valve, Congestive heart failure, Cerebral ischemia, Imperforate ...	ORPHA:1880
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Congestive heart failure	OMIM:300886
Immunodeficiency, Common Variable, 4	Decreased circulating total IgM, Decreased circulating IgG level, Complete or near-complete absen...	OMIM:613494
Asthma, Short Stature, And Elevated Iga	Increased circulating IgA level	OMIM:208600
Congenital Tricuspid Stenosis	Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ...	ORPHA:95459
Cirrhotic Cardiomyopathy	Abnormal bleeding, Congestive heart failure, Ascites, Elevated pulmonary artery pressure, Ventric...	ORPHA:57777
Histiocytosis, Familial Lipochrome	Increased circulating antibody level	OMIM:235900
Congenitally Uncorrected Transposition Of The Great Arteries	Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A...	ORPHA:860
Immunodeficiency 25	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:610163
Peripartum Cardiomyopathy	Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ...	ORPHA:563
Atransferrinemia	Congestive heart failure	OMIM:209300
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Left ventricular hypertrophy, Dilated cardiomyopathy, Congestive heart failure	ORPHA:206546
Immunodeficiency, Common Variable, 7	Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul...	OMIM:614699
Familial Dyskinesia And Facial Myokymia	Dilated cardiomyopathy, Congestive heart failure	ORPHA:324588
Macroglobulinemia, Waldenstrom, Susceptibility To, 1	Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM	OMIM:153600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure	OMIM:608099
Idiopathic Pulmonary Arterial Hypertension	Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res...	ORPHA:275766
Naxos Disease	Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ...	ORPHA:34217
Congenital Myopathy 5 With Cardiomyopathy	Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Severely reduced left v...	OMIM:611705
Stuve-Wiedemann Syndrome 2	Neonatal death, Pulmonary arterial hypertension, Stillbirth, Congestive heart failure	OMIM:619751
Congenital Myopathy 8	Cardiomegaly, Congestive heart failure	OMIM:618654
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Ventricular septal defect, Paroxysmal atrial tachycardia, Atrial septal...	ORPHA:49827
Combined Oxidative Phosphorylation Deficiency 28	Polyhydramnios, Congestive heart failure	OMIM:616794
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Ascites, Abnormal tric...	ORPHA:90308
Hemochromatosis, Type 2A	Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure	OMIM:602390
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Oligohydramnios, Polyhydramnios, Hydrops fetalis, Pericarditis	ORPHA:163596
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Congestive heart failure, Arrhythmia, Left ventricular hypertrophy, Wolff-Parkinson-White syndrom...	OMIM:540000
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Ventricular hypertrophy, Left ventricular hypertrophy, Congestive heart failure, Bradycardia	OMIM:619048
Combined Oxidative Phosphorylation Deficiency 22	Pulmonary arterial hypertension, Congestive heart failure	OMIM:616045
Desminopathy	Atrioventricular block, Concentric hypertrophic cardiomyopathy, Congestive heart failure, Suprave...	ORPHA:98909
Sandhoff Disease	Congestive heart failure	ORPHA:796
Morbid Obesity And Spermatogenic Failure	Hypertension, Myocardial infarction, Congestive heart failure	OMIM:615703
Cardiomyopathy, Dilated, 1S	Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Congestive heart failure, Tricusp...	OMIM:613426
Mitochondrial Complex I Deficiency, Nuclear Type 11	Hypertrophic cardiomyopathy, Congestive heart failure, Wolff-Parkinson-White syndrome	OMIM:618234
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Dilated cardiomyopathy, Sinus tachycardia, Congestive heart failure, Hypertrophic cardiomyopathy,...	OMIM:255160
Atrial Septal Defect, Ostium Primum Type	Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ...	ORPHA:99106
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Hypertrophic cardiomyopathy, Low-output congestive heart failure	ORPHA:91130
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Primum atrial septal defect, Atrioventricular block, ...	ORPHA:1329
Atrial Septal Defect, Ostium Secundum Type	Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Ped...	ORPHA:99103
Immunodeficiency, Common Variable, 14	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:617765
Hemochromatosis, Type 2B	Cardiomyopathy, Congestive heart failure	OMIM:613313
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt...	ORPHA:216694
Immunodeficiency 61	Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased circulating IgG4 level	OMIM:300310
Non-Involuting Congenital Hemangioma	Telangiectasia of the skin, Congestive heart failure	ORPHA:141179
Agammaglobulinemia 10, Autosomal Dominant	Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c...	OMIM:619707
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Decreased circulating IgG level, Increased circulating IgE level, Hypopituitarism, Decreased circ...	ORPHA:98813
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased circulating IgE level, Increased circulating IgG level	OMIM:618982
Caspase 8 Deficiency	Decreased circulating IgG level, Decreased circulating IgA level, Reduced CD95-induced lymphocyte...	OMIM:607271
Deafness, Neural, With Atypical Atopic Dermatitis	Increased circulating IgE level	OMIM:221700
Immunodeficiency 44	Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level	OMIM:616636
Glycogen Storage Disease Of Heart, Lethal Congenital	Biventricular hypertrophy, Pulmonary edema, Increased myocardial glycogen content, Ventricular fi...	OMIM:261740
Interatrial Communication	Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai...	ORPHA:1478
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Increased circulating IgG level, Increased circulating IgM level	OMIM:619220
Collagenoma, Familial Cutaneous	Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ...	OMIM:115250
Agammaglobulinemia 4, Autosomal Recessive	Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c...	OMIM:613502
3-Methylglutaconic Aciduria, Type V	Dilated cardiomyopathy, Congestive heart failure, Noncompaction cardiomyopathy, Atrial septal def...	OMIM:610198
Naxos Disease	Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca...	OMIM:601214
Immunodeficiency 64 With Lymphoproliferation	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Defec...	OMIM:618534
Whim Syndrome 1	Abnormal female external genitalia morphology, Decreased circulating IgG level, Decreased circula...	OMIM:193670
Danon Disease	Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul...	OMIM:300257
Wild Type Attr Amyloidosis	Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Pleur...	ORPHA:330001
Immunodeficiency, Common Variable, 5	Chronic decreased circulating total IgG	OMIM:613495
Myeloma, Multiple	Paraproteinemia	OMIM:254500
Rapidly Involuting Congenital Hemangioma	Telangiectasia of the skin, Congestive heart failure	ORPHA:141184
Infantile Sialic Acid Storage Disease	Ascites, Hydrops fetalis, Cardiomegaly, Congestive heart failure	OMIM:269920
Aortic Arch Interruption	Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Pedal edema, Systolic heart m...	ORPHA:2299
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin	Decreased circulating IgA level	OMIM:235500
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Dilated cardiomyopathy, Congestive heart failure	OMIM:606703
Dk1-Cdg	Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Interstitial cardiac...	ORPHA:91131
Aorta Coarctation	Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor...	ORPHA:1457
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Hypertension, Congestive heart failure	ORPHA:1349
Ige Responsiveness, Atopic	Increased circulating IgE level	OMIM:147050
Severe Combined Immunodeficiency, X-Linked	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Hypoplasia ...	OMIM:300400
Lymphatic Malformation 8	Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric...	OMIM:618773
Tako-Tsubo Cardiomyopathy	Dilatation of the ventricular cavity, Mitral regurgitation, Pulmonary edema, Arrhythmia, Ventricu...	ORPHA:66529
Neutropenia, Chronic Familial	Increased circulating antibody level	OMIM:162700
Aneurysm Of Sinus Of Valsalva	Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Heart murmur, Edema	ORPHA:1054
Mulibrey Nanism	Congestive heart failure, Ascites, Cardiomegaly, Pericardial constriction, Hydrops fetalis, Myoca...	OMIM:253250
Congenital Muscular Dystrophy Due To Lmna Mutation	Arrhythmia, Congestive heart failure	ORPHA:157973
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi...	OMIM:264800
Long-Olsen-Distelmaier Syndrome	Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Ventricular sept...	OMIM:620609
Immunodeficiency 89 And Autoimmunity	Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati...	OMIM:619632
Cardiac Diverticulum	Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co...	ORPHA:1686
Combined Cellular And Humoral Immune Defects With Granulomas	Decreased circulating IgG level	OMIM:233650
Cednik Syndrome	Congestive heart failure	ORPHA:66631
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Congestive heart failure, Hypertrophic cardiomyopathy, Oligohydramnios, Abnormal pulmonary valve ...	ORPHA:1194
Hemochromatosis, Type 1	Cardiomyopathy, Congestive heart failure, Ascites, Pleural effusion, Telangiectasia, Cardiomegaly...	OMIM:235200
Carnitine Deficiency, Systemic Primary	Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Endocardial fibroelastosis...	OMIM:212140
American Trypanosomiasis	Periorbital edema, Cardiomyopathy, Congestive heart failure, Arrhythmia, Achalasia, Myocarditis, ...	ORPHA:3386
Transcobalamin Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:859
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypertrophic cardiomyopathy, Abnormal heart morphology, Congestive heart failure	ORPHA:70472
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections	Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Increased cir...	OMIM:618944
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure	ORPHA:85446
Hydrops Fetalis	Generalized edema, Lymphedema, Ascites, Abnormal heart morphology, Pleural effusion, Nonimmune hy...	ORPHA:1041
Immunodeficiency, Common Variable, 3	Decreased circulating total IgM, Decreased circulating IgA level, Reduced isohemagglutinin level,...	OMIM:613493
Polymyositis	Vasculitis, Gastrointestinal hemorrhage, Abnormal atrioventricular conduction, Dilated cardiomyop...	ORPHA:732
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Atrial flutter, Congestive heart failure, Tricuspid regurgitation, Mitral ...	ORPHA:324410
Laubry-Pezzi Syndrome	Aortic regurgitation, Congestive heart failure, Palpitations, Patent foramen ovale, Mildly reduce...	ORPHA:99094
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Polyhydramnios, Atrial septal defect, Congestive heart failure	ORPHA:500533
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:611926
Cardiogenic Shock	Hypotension, Right ventricular failure, Edema, Abnormal left ventricular function, Congestive hea...	ORPHA:97292
Immunodeficiency 62	Decreased circulating total IgM, Decreased circulating IgG level, Reduced isohemagglutinin level,...	OMIM:618459
Immunodeficiency 18	Decreased circulating total IgM, Defective T cell proliferation, Abnormal circulating IgG level, ...	OMIM:615615
Acquired Aneurysmal Subarachnoid Hemorrhage	Vasospasm, Congestive heart failure, Ischemic stroke, Cerebral ischemia, ST segment depression, H...	ORPHA:90065
Refsum Disease, Classic	Cardiomegaly, Arrhythmia, Cardiomyopathy, Congestive heart failure	OMIM:266500
Sodium-Dependent Multivitamin Transporter Deficiency	Decreased circulating IgG level	OMIM:618973
Combined Oxidative Phosphorylation Defect Type 23	Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection...	ORPHA:444013
Autoimmune Lymphoproliferative Syndrome	Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve...	OMIM:601859
Immunodeficiency 35	Increased circulating IgE level	OMIM:611521
Hutchinson-Gilford Progeria Syndrome	Angina pectoris, Myocardial infarction, Congestive heart failure	OMIM:176670
Palmoplantar Keratoderma, Epidermolytic, 1	Increased circulating IgE level	OMIM:144200
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr...	OMIM:171420
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Dilated cardiomyopathy, Congestive heart failure, Ascites, Abnormal cardiomyocyte morphology, Por...	ORPHA:367
Kimura Disease	Increased circulating IgE level, Abnormal salivary gland morphology	ORPHA:482
Nephrosialidosis	Ascites, Pericardial effusion	OMIM:256150
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:618987
Classic Multiminicore Myopathy	Right ventricular failure, Right ventricular hypertrophy, Mitral valve prolapse, Congestive heart...	ORPHA:324604
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Lower eyelid edema, Gastrointestinal hemorrhage, Congestive heart failure,...	ORPHA:363705
Agammaglobulinemia 6, Autosomal Recessive	Agammaglobulinemia, Decreased circulating IgG level, Decreased circulating IgA level, Decreased c...	OMIM:612692
Fabry Disease	Congestive heart failure, Lymphedema, Transient ischemic attack, Angina pectoris, Arrhythmia, Lef...	OMIM:301500
Non-Functioning Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper...	ORPHA:94080
Scimitar Syndrome	Hypoplastic left heart, Congestive heart failure, Abnormal heart morphology, Tetralogy of Fallot,...	ORPHA:185
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit...	OMIM:620066
Absence Of The Pulmonary Artery	Atrial flutter, Congestive heart failure, Abnormal EKG, Reduced left ventricular ejection fractio...	ORPHA:980
Capillary Malformation-Arteriovenous Malformation	Epistaxis, Abnormal bleeding, Chylothorax, Congestive heart failure, Lymphedema, Abnormal heart m...	ORPHA:137667
Maternal Uniparental Disomy Of Chromosome X	Predominantly lower limb lymphedema, Congestive heart failure	ORPHA:261519
Choanal Atresia And Lymphedema	Pericardial effusion, Lymphedema	OMIM:613611
Primary Effusion Lymphoma	Pericardial effusion, Pleural effusion	ORPHA:48686
Muscular Dystrophy, Duchenne Type	Dilated cardiomyopathy, Cardiomyopathy, Abnormal EKG, Congestive heart failure, Arrhythmia	OMIM:310200
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hypertrophic cardiomyopathy, Cerebral edema, Dilated cardiomyopathy, Congestive heart failure	OMIM:611126
Immunodeficiency 109 With Lymphoproliferation	Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ...	OMIM:620282
Immune-Mediated Necrotizing Myopathy	Myocarditis, Palpitations, Raynaud phenomenon, Congestive heart failure	ORPHA:206569
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Secundum atrial septal defect, Cardiomyopathy, Congestive heart failure, Oligohydramnios, Patent ...	OMIM:616866
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Increased circulating IgM level, Decreased circul...	OMIM:615513
Babesiosis	Myocardial infarction, Congestive heart failure	ORPHA:108
Chronic Thromboembolic Pulmonary Hypertension	Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Palpita...	ORPHA:70591
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Ascites, Oligohydramnios, Pleural effusion, Cardiomegaly, Bradycardi...	OMIM:614702
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Increased circulating antibody level	OMIM:247800
Acyl-Coa Dehydrogenase 9 Deficiency	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Cerebellar hemorrh...	ORPHA:99901
Drug-Induced Autoimmune Hemolytic Anemia	Tachycardia, Congestive heart failure	ORPHA:90037
Alpha-Thalassemia	Generalized edema, Congestive heart failure, Pleural effusion, Pericardial effusion, Hydrops fetalis	ORPHA:846
Immunodeficiency 33	Decreased circulating total IgM, Increased circulating IgA level	OMIM:300636
Ectodermal Dysplasia And Immunodeficiency 1	Abnormal circulating IgG level, Dysgammaglobulinemia, Increased circulating IgA level, Reduced na...	OMIM:300291
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Ventricular tachycar...	OMIM:605676
Combined Oxidative Phosphorylation Deficiency 59	Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection fraction, Cerebral edema,...	OMIM:620646
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Ventricular septal defect,...	ORPHA:99050
Barth Syndrome	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgit...	OMIM:302060
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Congestive heart failure, Cardiomegaly, Hypertension, Myocardial infarction	OMIM:208000
Pancreatic insufficiency, combined exocrine	Anasarca, Congestive heart failure	OMIM:260450
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:300861
Amoebiasis Due To Entamoeba Histolytica	Congestive heart failure, Abnormal pericardium morphology, Pleural effusion, Constrictive pericar...	ORPHA:67
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgE level, Incre...	ORPHA:169154
Eosinophilic Granulomatosis With Polyangiitis	Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal pericardium morpholog...	ORPHA:183
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Dilated cardiomyopathy, Congestive heart failure, Mitral regurgitation, Dou...	ORPHA:2326
Immunodeficiency 27A	Increased circulating IgG level, Increased circulating IgM level	OMIM:209950
Proteasome-Associated Autoinflammatory Syndrome 2	Abnormal circulating IgM level, Increased circulating IgG level, Increased circulating IgA level	OMIM:618048
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Increased circulating IgE level, Reduced delayed hypersensitivity, Hypoplasia of the thymus, Redu...	OMIM:617241
Agammaglobulinemia 8B, Autosomal Recessive	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619824
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi...	ORPHA:555874
Immunodeficiency 10	Decreased circulating IgG level, Decreased circulating IgA level, Increased circulating IgA level...	OMIM:612783
Immunodeficiency 70	Decreased circulating total IgM, Decreased circulating antibody level, Decreased circulating tota...	OMIM:618969
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Cardiomyopathy, Congestive heart failure	ORPHA:52430
Graves Disease	Congestive heart failure	OMIM:275000
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Congestive heart failure	ORPHA:3077
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Increased circulating IgA level	OMIM:314000
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Impaired T cell function, Decreased circulating IgA level, Parti...	OMIM:240500
Microscopic Polyangiitis	Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Subcutaneous hemorr...	ORPHA:727
Autoimmune Disease, Multisystem, Infantile-Onset, 3	Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ...	OMIM:620430
Immunodeficiency 105	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619924
Riddle Syndrome	Decreased circulating IgG level	OMIM:611943
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormal pancreas morphology, Increased circulating IgE level, Reduced ...	ORPHA:449432
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ...	OMIM:620519
Autoimmune Lymphoproliferative Syndrome, Type Iia	Reduced delayed hypersensitivity, Increased circulating IgA level, Increased circulating IgG leve...	OMIM:603909
Immunodeficiency, Common Variable, 11	Increased circulating IgE level, Decreased circulating IgG level	OMIM:615767
Gm1-Gangliosidosis, Type I	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart val...	OMIM:230500
Mitochondrial Trifunctional Protein Deficiency 1	Arrhythmia, Dilated cardiomyopathy, Hydrops fetalis, Congestive heart failure	OMIM:609015
Igg4-Related Aortitis	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449400
Friedreich Ataxia	Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure	OMIM:229300
Immunodeficiency 14B, Autosomal Recessive	Reduced natural killer cell activity, Decreased circulating IgG level, Decreased circulating IgA ...	OMIM:619281
Lymphatic Malformation 7	Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ...	OMIM:617300
Spinal Arteriovenous Metameric Syndrome	Congestive heart failure	ORPHA:53721
Carney Complex, Type 1	Cardiac myxoma, Congestive heart failure	OMIM:160980
Simple Cryoglobulinemia	Vasculitis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart morphology, Pur...	ORPHA:91139
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Cardiomyopathy, Congestive heart failure	OMIM:619259
Pheochromocytoma	Congestive heart failure, Positive regitine blocking test, Episodic hypertension, Cerebral hemorr...	OMIM:171300
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre...	ORPHA:276
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Increased circulating IgG level	OMIM:618495
Colchicine Poisoning	Hypotension, Cardiogenic shock, Congestive heart failure, Arrhythmia, Myocarditis, Dehydration, H...	ORPHA:31824
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomyopathy, Congestive heart failure, Portal hypertension, Joint swelling, Cardiomegaly, Arrh...	ORPHA:465508
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Congestive heart failure	ORPHA:137608
Osteogenesis Imperfecta, Type Ii	Pulmonary insufficiency, Nonimmune hydrops fetalis, Congestive heart failure	OMIM:166210
Boutonneuse Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:83313
Ovarian Dysgenesis 3	Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone...	OMIM:614324
Mitochondrial Trifunctional Protein Deficiency	Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Mitral regurgitation, Arrhythm...	ORPHA:746
Waldenström Macroglobulinemia	Gingival bleeding, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Periorbital edema, Congest...	ORPHA:33226
Dietary Iron Overload Disease	Abnormal heart morphology, Congestive heart failure	ORPHA:139507
Familial Partial Lipodystrophy, Dunnigan Type	Hypertrophic cardiomyopathy, Congestive heart failure	ORPHA:2348
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Pericardial ef...	OMIM:619313
Subacute Inflammatory Demyelinating Polyneuropathy	Increased circulating IgG level	ORPHA:206594
Pparg-Related Familial Partial Lipodystrophy	Hypertrophic cardiomyopathy, Hypertension, Congestive heart failure	ORPHA:79083
Mucolipidosis Type Iii Alpha/Beta	Aortic regurgitation, Right ventricular hypertrophy, Mitral regurgitation, Congestive heart failure	ORPHA:423461
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Bifid scrotum, Bilateral cr...	ORPHA:90797
Aarskog-Scott Syndrome	Congestive heart failure	ORPHA:915
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,...	ORPHA:137675
Fabry Disease	Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Bundle branch bloc...	ORPHA:324
Diffuse Cutaneous Systemic Sclerosis	Hypertensive crisis, Xerostomia, Congestive heart failure, Telangiectasia of the skin, Pulmonary ...	ORPHA:220393
Autoimmune Hemolytic Anemia, Warm Type	Tachycardia, Congestive heart failure	ORPHA:90033
Angiostrongyliasis	Increased circulating IgG level, Increased circulating IgA level, Increased circulating specific ...	ORPHA:74
Acquired Idiopathic Sideroblastic Anemia	Abnormal bleeding, Congestive heart failure	ORPHA:75564
Insulin Autoimmune Syndrome	Increased circulating antibody level	ORPHA:411593
Immunodeficiency 11B With Atopic Dermatitis	Increased circulating IgE level, Decreased circulating total IgM	OMIM:617638
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Dilated cardiomyopathy, Congestive heart failure, Pulmonary edema, Pericardial effusion, Sudden c...	ORPHA:73224
Sporadic Pheochromocytoma/Secreting Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper...	ORPHA:276621
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:614069
Congenital Generalized Lipodystrophy	Hypertrophic cardiomyopathy, Congestive heart failure	ORPHA:528
Multiple Acyl-Coa Dehydrogenase Deficiency	Abnormal heart morphology, Arrhythmia, Cardiomyopathy, Congestive heart failure	ORPHA:26791
Immunodeficiency With Hyper-Igm, Type 1	Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve...	OMIM:308230
Pediatric-Onset Graves Disease	Sinus tachycardia, Congestive heart failure, Palpitations, Oligohydramnios, Atrial fibrillation, ...	ORPHA:525731
Immunodeficiency, Common Variable, 1	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:607594
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Ventricular hypertrophy, Congestive heart failure, Mitral regurgitation, M...	ORPHA:363618
Immunodeficiency 115 With Autoinflammation	Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Decreased cir...	OMIM:620632
Immunodeficiency 112	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:620449
Monosomy 18Q	Aortic valve stenosis, Secundum atrial septal defect, Absence of the pulmonary valve, Congestive ...	ORPHA:1600
Immunodeficiency 96	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619774
Chromosome 18Q Deletion Syndrome	Aortic valve stenosis, Absence of the pulmonary valve, Congestive heart failure, Ventricular sept...	OMIM:601808
Erythema Elevatum Diutinum	Increased circulating antibody level	ORPHA:90000
Immunodeficiency 43	Abnormal circulating IgM level, Decreased circulating IgG level, Decreased specific antibody resp...	OMIM:241600
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hypertrophic cardiomyopathy, Shortened PR interval, Cardiomegaly, Left ventricular hypertrophy, L...	ORPHA:308552
Tempi Syndrome	Increased circulating IgG level	ORPHA:284227
Microcephalic Primordial Dwarfism, Toriello Type	Decreased circulating total IgM, Decreased circulating IgG level	ORPHA:2643
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Right ventricular failure, Hemothorax, Pleural effusion, Pulmonary e...	ORPHA:199241
Gm1 Gangliosidosis	Cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Ventricular septal defect, H...	ORPHA:354
Hyperkalemic Periodic Paralysis	Arrhythmia, Congestive heart failure	ORPHA:682
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Cerebral edema, Left ventricular hypertrophy, Congestive heart failure	OMIM:619355
Autoinflammation With Arthritis And Dyskeratosis	Increased circulating IgG level, Increased circulating IgA level	OMIM:617388
Immunodeficiency 60 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:618394
Combined Immunodeficiency, X-Linked	Decreased circulating IgG level	OMIM:312863
Tetrasomy 5P	Heart murmur, Pulmonary arterial hypertension, Congestive heart failure	ORPHA:3309
Immunodeficiency 102	Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Decreased cir...	OMIM:301082
Cutis Laxa, Autosomal Dominant 1	Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Congestive heart failure	OMIM:123700
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure	OMIM:615895
Drug-Induced Lupus Erythematosus	Pericardial effusion, Prolonged QTc interval, Petechiae, Pericarditis	ORPHA:231111
Mucopolysaccharidosis, Type Ii	Abnormal heart valve morphology, Congestive heart failure	OMIM:309900
Arterial Tortuosity Syndrome	Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Telangiectasia of ...	ORPHA:3342
Mucopolysaccharidosis-Plus Syndrome	Hypertrophic cardiomyopathy, Atrial septal defect, Congestive heart failure	OMIM:617303
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Abnormal heart mo...	ORPHA:505248
Seckel Syndrome 10	Ventricular hypertrophy, Hypertension, Congestive heart failure	OMIM:617253
Scorpion Envenomation	Cardiogenic shock, Prominent U wave, Congestive heart failure, Bundle branch block, Cardiac condu...	ORPHA:466677
3-Methylglutaconic Aciduria, Type Viib	Abnormal bleeding, Congestive heart failure, Prolonged prothrombin time, Polyhydramnios, Dehydration	OMIM:616271
Schimke Immuno-Osseous Dysplasia	Congestive heart failure, Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Pulmonar...	ORPHA:1830
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Increased circulating IgE level, Increased circulating IgG level, Decreased circulating total IgM	OMIM:243700
Martsolf Syndrome 1	Cardiac arrest, Cardiomyopathy, Congestive heart failure	OMIM:212720
Primary Triglyceride Deposit Cardiomyovasculopathy	Cardiomyopathy, Coronary artery stenosis, Abnormal cardiomyocyte morphology, Palpitations, Angina...	ORPHA:565612
Mucopolysaccharidosis Type 1	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Abnormal aortic valve morphology, C...	ORPHA:579
Calcific Aortic Disease With Immunologic Abnormalities, Familial	Increased circulating antibody level	OMIM:114065
Multiple Benign Circumferential Skin Creases On Limbs	Edema, Congestive heart failure	ORPHA:2505
Interstitial Lung Disease 2	Increased circulating antibody level	OMIM:178500
Hereditary Pheochromocytoma-Paraganglioma	Sinus tachycardia, Congestive heart failure, Positive regitine blocking test, Palpitations, Hyper...	ORPHA:29072
Erdheim-Chester Disease	Congestive heart failure, Abnormal pericardium morphology, Pleural effusion, Joint swelling, Abno...	ORPHA:35687
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Neonatal death, Pulmonary arterial hypertension, Congestive heart failure	OMIM:616482
Immunodeficiency 23	Increased circulating IgE level, Increased circulating IgG level, Increased circulating IgM level	OMIM:615816
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrioventricular block, Dilated cardiomyopathy, Patent foramen ovale, Ventricular septal defect, ...	ORPHA:26793
Ethylene Glycol Poisoning	Hypotension, Congestive heart failure, Shock, Pulmonary edema, Prolonged QT interval, Cerebral ed...	ORPHA:31826
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Congestive heart failure, Petechiae, Hypertension, Purpura	ORPHA:85450
Lymphoproliferative Syndrome, X-Linked, 1	Decreased circulating IgG level, Decreased circulating antibody level, Dysgammaglobulinemia, Redu...	OMIM:308240
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy	Anoperineal fistula, Increased circulating IgE level, Decreased T cell activation, Defective T ce...	OMIM:618213
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Increased circulating antibody level	OMIM:202700
Lymphangiectasia, Intestinal	Decreased circulating IgG level	OMIM:152800
Malignant Hyperthermia Of Anesthesia	Cardiomyocyte mitochondrial proliferation, Supraventricular tachycardia, High-output congestive h...	ORPHA:423
Congenital Disorder Of Glycosylation, Type Iie	Perimembranous ventricular septal defect, Secundum atrial septal defect, Congestive heart failure	OMIM:608779
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Abnormal atrioventricular conduction, Congestive heart failure, Hypertrophic cardiomyopathy, Supr...	ORPHA:280365
Sting-Associated Vasculopathy, Infantile-Onset	Increased circulating IgG level, Increased circulating IgA level	OMIM:615934
Avian Influenza	Pleural effusion, Congestive heart failure	ORPHA:454836
Congenital Enterovirus Infection	Hypotension, Fetal ascites, Abnormal bleeding, Cardiomyopathy, Pleural effusion, Polyhydramnios, ...	ORPHA:292
Immunodeficiency 93 And Hypertrophic Cardiomyopathy	Decreased circulating total IgM, Decreased circulating IgG level, Agammaglobulinemia	OMIM:619705
Immunodeficiency 85 And Autoimmunity	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619510
Werner Syndrome	Telangiectasia of the skin, Hypertension, Myocardial infarction, Congestive heart failure	ORPHA:902
Autoinflammatory Disease, Systemic, X-Linked	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating antibody ...	OMIM:301081
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent fetal circulation, Bradycardia...	OMIM:618775
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Increased circulating antibody level	OMIM:615285
Mu-Heavy Chain Disease	Increased circulating antibody level	ORPHA:100024
Autoimmune Hepatitis	Increased circulating IgG level, Increased circulating antibody level	ORPHA:2137
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Abnormal bleeding, Bruising susceptibility, Congestive heart failure, Arterial rupture, Mitral va...	ORPHA:1900
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Decreased circulating total IgM, Decreased circulating IgG level	OMIM:620210
Autoimmune Lymphoproliferative Syndrome	Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Decreased circulatin...	ORPHA:3261
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Increased circulating IgE level, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619752
Hereditary Hemorrhagic Telangiectasia	Epistaxis, Gastrointestinal hemorrhage, Pulmonary embolism, Spontaneous hematomas, Tongue telangi...	ORPHA:774
Immunodeficiency, Common Variable, 10	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:615577
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre...	ORPHA:169160
Idiopathic Hypereosinophilic Syndrome	Dilated cardiomyopathy, Pulmonary embolism, Angioedema, Congestive heart failure, Transient ische...	ORPHA:3260
Igg4-Related Thyroid Disease	Euthyroid goiter, Goiter, Increased circulating IgG4 level, Sialadenitis, Pancreatic fibrosis, No...	ORPHA:64744
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Tricuspid regurgitation, Noncompaction cardiomyopathy, Congestive heart failure	ORPHA:508542
Pgm3-Cdg	Bone marrow hypocellularity, Increased circulating IgE level, Increased circulating IgA level, Re...	ORPHA:443811
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased circulating antibody level, Decreased circulating complement C4 concentration, Reduced ...	OMIM:615559
Ras-Associated Autoimmune Leukoproliferative Disorder	Decreased lymphocyte apoptosis, Increased circulating antibody level	OMIM:614470
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:616100
Caffey Disease	Increased circulating antibody level	ORPHA:1310
Generalized Pustular Psoriasis	Pedal edema, Congestive heart failure	ORPHA:247353
Telangiectasia, Hereditary Hemorrhagic, Type 4	Right-to-left shunt, Tongue telangiectasia, Transient ischemic attack, Ischemic stroke, Nasal muc...	OMIM:610655
Chilblain Lupus	Increased circulating antibody level	ORPHA:90280
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Congestive heart failure, Hypertrophic cardiomyopathy, Palpebral edema, Mit...	OMIM:252500
Immunodeficiency 114, Folate-Responsive	Increased circulating IgE level, Decreased circulating IgG level	OMIM:620603
Leigh Syndrome	Hypertrophic cardiomyopathy, Ventricular septal defect, Congestive heart failure	ORPHA:506
Insulin-Resistance Syndrome Type B	Decreased circulating complement factor B concentration, Polycystic ovaries, Enlarged polycystic ...	ORPHA:2298
Kawasaki Disease	Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal defect without pul...	ORPHA:2331
Cutis Laxa, Autosomal Recessive, Type Iid	Congestive heart failure, Hypertrophic cardiomyopathy, Right bundle branch block, Atrial septal d...	OMIM:617403
Autosomal Recessive Cutis Laxa Type 1	Dilatation of the ventricular cavity, Abnormal cardiac ventricular function, Supravalvular aortic...	ORPHA:90349
Vici Syndrome	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Left ventricular hypertrophy, A...	OMIM:242840
Autosomal Dominant Hypocalcemia	Hypotension, Arrhythmia, Congestive heart failure	ORPHA:428
Immunodeficiency 9	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:612782
Multiple Myeloma	Increased circulating IgG level, Increased circulating IgA level, Decreased circulating antibody ...	ORPHA:29073
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Decre...	ORPHA:331206
Aceruloplasminemia	Congestive heart failure	ORPHA:48818
Triosephosphate Isomerase Deficiency	Oligohydramnios, Congestive heart failure	OMIM:615512
Incontinentia Pigmenti	Congestive heart failure, Cerebral ischemia, Telangiectasia of the skin, Pulmonary arterial hyper...	ORPHA:464
Immunodeficiency 92	Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine...	OMIM:619652
Weill-Marchesani Syndrome 2	Aortic valve stenosis, Congestive heart failure, Mitral regurgitation, Ventricular septal defect,...	OMIM:608328
Igg4-Related Kidney Disease	Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat...	ORPHA:449395
Congenital Disorder Of Glycosylation, Type Ig	Decreased circulating IgG level, Small scrotum, Decreased circulating IgA level, Cryptorchidism, ...	OMIM:607143
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Ascites, Polyhydramnios, Congestive heart failure	OMIM:617156
Tsh-Secreting Pituitary Adenoma	Hypotension, Congestive heart failure, Pericardial effusion, Palpitations, Supraventricular arrhy...	ORPHA:91347
Congenital Total Pulmonary Venous Return Anomaly	Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Right ventricular fail...	ORPHA:99125
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Telangie...	OMIM:187300
Geleophysic Dysplasia 1	Aortic valve stenosis, Congestive heart failure, Mitral stenosis, Pulmonary arterial hypertension...	OMIM:231050
Myotonic Dystrophy 2	Decreased circulating IgG level, Hypogonadism, Elevated circulating follicle stimulating hormone ...	OMIM:602668
Abetalipoproteinemia	Cardiomegaly, Abnormal bleeding, Prolonged prothrombin time, Congestive heart failure	ORPHA:14
Friedreich Ataxia 2	Congestive heart failure, Muscular subvalvular aortic stenosis, Abnormal EKG, Concentric hypertro...	OMIM:601992
Kaposiform Lymphangiomatosis	Epistaxis, Abnormal bleeding, Bruising susceptibility, Pleural effusion, Ecchymosis, Pericardial ...	ORPHA:464329
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Increased circulating IgG level, Increased circulating IgM level, Abnormal ductus choledochus mor...	ORPHA:562639
Dyskeratosis Congenita, Digenic	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:620040
Cardiac-Urogenital Syndrome	Hypoplastic left heart, Coronary sinus enlargement, Biventricular hypertrophy, Tetralogy of Fallo...	OMIM:618280
Immunodeficiency 22	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:615758
Immunodeficiency 32B	Impaired oxidative burst, Abnormal circulating IgG level	OMIM:226990
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Pulmonary arterial hypertension, Renovascular hypertension, Patent foramen ovale, Congestive hear...	ORPHA:391487
Neutral Lipid Storage Myopathy	Cardiomyopathy, Congestive heart failure	ORPHA:98908
Listeriosis	Arteritis, Congestive heart failure, Myocarditis, Endocarditis, Pericarditis	ORPHA:533
O'Sullivan-Mcleod Syndrome	Increased circulating antibody level	ORPHA:99965
Agammaglobulinemia, X-Linked	Decreased circulating IgG level, Decreased circulating IgA level, Agammaglobulinemia, Complete or...	OMIM:300755
Crimean-Congo Hemorrhagic Fever	Gingival bleeding, Tachycardia, Purpura, Diffuse alveolar hemorrhage, Bundle branch block, Ascite...	ORPHA:99827
Scalp-Ear-Nipple Syndrome	Congestive heart failure, Supraventricular tachycardia, Cardiac myxoma, Palpebral edema, Hyperten...	OMIM:181270
Alstrom Syndrome	Dilated cardiomyopathy, Hypertension, Congestive heart failure	OMIM:203800
Primary Sclerosing Cholangitis	Spider hemangioma, Palmar telangiectasia, Congestive heart failure, Ascites, Portal hypertension,...	ORPHA:171
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Arterial rupture, Gastrointestinal hemorrhage, Bruising susceptibility, Congestive heart failure	OMIM:225400
Immunodeficiency 36 With Lymphoproliferation	Decreased circulating IgG level, Decreased circulating IgA level, Increased circulating IgM level	OMIM:616005
Immunodeficiency 67	Increased circulating IgE level, Complete or near-complete absence of specific antibody response ...	OMIM:607676
Dominant Beta-Thalassemia	Arrhythmia, Dilated cardiomyopathy, High-output congestive heart failure	ORPHA:231226
Mogs-Cdg	Decreased circulating IgG level, Decreased circulating IgA level, External genital hypoplasia, De...	ORPHA:79330
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Small pituitary gland, Aplasia/hypoplasia of the uterus, Non-obstructive azoospermia, Breast hypo...	ORPHA:2232
Rift Valley Fever	Increased circulating IgG level, Increased circulating IgM level	ORPHA:319251
Marfan Syndrome	Aortic regurgitation, Mitral annular calcification, Congestive heart failure, Tricuspid regurgita...	OMIM:154700
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Congestive heart failure, Abnormal heart morphology, Patent foramen ovale, Ventricular septal def...	ORPHA:444077
Diarrhea 10, Protein-Losing Enteropathy Type	Hematochezia, Anasarca, Ascites, Pleural effusion, Polyhydramnios, Pericardial effusion	OMIM:618183
Coccidioidomycosis	Abnormality of the male genitalia, Abnormality of the female genitalia, Abnormal sperm morphology...	ORPHA:228123
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:436159
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Increased circulating IgG4 level, Abnormality of the submandibular glan...	ORPHA:79078
Tick-Borne Encephalitis	Increased circulating IgG level, Increased circulating IgM level, Abnormal circulating cytokine c...	ORPHA:297
Spinocerebellar Ataxia Type 7	Congestive heart failure	ORPHA:94147
Alg12-Cdg	Abnormal circulating IgM level, Complete or near-complete absence of specific antibody response t...	ORPHA:79324
Diamond-Blackfan Anemia 1	Tricuspid stenosis, Ventricular septal defect, Atrial septal defect, Congestive heart failure	OMIM:105650
Marfan Syndrome	Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Mitral valve prolapse, Tric...	ORPHA:558
Beta-Thalassemia Intermedia	Pulmonary arterial hypertension, High-output congestive heart failure	ORPHA:231222
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8 concentration, Increased circulating interferon-gamma concent...	OMIM:256040
Papa Syndrome	Increased circulating antibody level	ORPHA:69126
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Decreased circulating IgG level, Decreased circulating IgA level	ORPHA:275
Immunodeficiency 97 With Autoinflammation	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:619802
Netherton Syndrome	Increased circulating IgE level, Decreased circulating IgG level	OMIM:256500
Primary Intestinal Lymphangiectasia	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	ORPHA:90362
Beta-Thalassemia Major	Arrhythmia, Dilated cardiomyopathy, High-output congestive heart failure	ORPHA:231214
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Lack ...	ORPHA:35078
Gaucher Disease Type 3	Aortic valve calcification, Abnormal heart valve morphology, Pulmonary arterial hypertension, Abn...	ORPHA:77261
Subcorneal Pustular Dermatosis	Increased circulating antibody level	ORPHA:48377
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Decreased circulating IgG level, Impaired neutrophil chemotaxis, Decreased lymphocyte proliferati...	OMIM:618986
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Aortic regurgitation, Congestive heart failure, Palpebral edema, Ventricular septal defect, Bicus...	OMIM:619475
Hallermann-Streiff Syndrome	Congestive heart failure	ORPHA:2108
Williams Syndrome	Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Ov...	ORPHA:904
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Hypoplasia of the vagina	ORPHA:3109
Igg4-Related Ophthalmic Disease	Increased circulating IgE level, Increased circulating IgG4 level, Sialadenitis, Orchitis, Prosta...	ORPHA:449563
Vici Syndrome	Decreased circulating IgG level, Decreased circulating IgG2 level	ORPHA:1493
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Dilatation of the ventricular cavity, Mitral regurgitation, Congestive hear...	ORPHA:90348
Igg4-Related Pachymeningitis	Increased circulating IgG4 level, Reduced circulating complement concentration, Parotitis	ORPHA:449427
Brucellosis	Increased circulating IgG level, Increased circulating IgM level, Epididymitis, Orchitis	ORPHA:1304
Immunodeficiency, Common Variable, 8, With Autoimmunity	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level...	OMIM:614700
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Decreased circulating antibody level	OMIM:613011
Transcobalamin Ii Deficiency	Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level	OMIM:275350
Thrombocytopenia 1	Increased circulating IgE level, Increased circulating IgA level	OMIM:313900
Pyoderma Gangrenosum	Increased circulating antibody level	ORPHA:48104
Atypical Werner Syndrome	Aortic valve stenosis, Aortic valve calcification, Congestive heart failure, Mitral valve prolaps...	ORPHA:79474
Parkes Weber Syndrome	Subarachnoid hemorrhage, Abnormal bleeding, High-output congestive heart failure, Bounding pulse	ORPHA:90307
Bloom Syndrome	Decreased circulating IgG level, Decreased circulating IgA level, Azoospermia, Cryptorchidism, De...	OMIM:210900
Ataxia-Telangiectasia	Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve...	OMIM:208900
Singleton-Merten Syndrome 1	Aortic valve stenosis, Aortic valve calcification, Congestive heart failure, Pleural effusion, Ca...	OMIM:182250
African Trypanosomiasis	Second degree atrioventricular block, Third degree atrioventricular block, Congestive heart failu...	ORPHA:3385
Cystic Echinococcosis	Abnormality of the testis size, Ovarian cyst, Increased circulating antibody level	ORPHA:400
Say-Barber-Miller Syndrome	Decreased circulating IgG level, Hypogonadism, Cryptorchidism, Transient hypogammaglobulinemia of...	ORPHA:3132
Liver Failure, Infantile, Transient	Decreased circulating IgG level	OMIM:613070
Mgat2-Cdg	Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Hypop...	ORPHA:79329
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Decreased circul...	ORPHA:183675

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