Gene Summary

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

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

Download data as:  TSV  XLS

Select physiological systems to view:
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, Dilated, 1M
Increased left ventricular end-diastolic volume, Endocardial fibroelastosis, Impaired myocardial ... OMIM:607482
Cardiomyopathy, Dilated, 2A
Myofiber disarray, Increased left ventricular end-diastolic volume, Cardiomyocyte hypertrophy, Di... OMIM:611880
Cardiomyopathy, Familial Hypertrophic, 15
Myofiber disarray, Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Left ventricu... OMIM:613255
Cardiomyopathy, Dilated, 1Dd
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic... OMIM:613172
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 1Ee
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613252
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613286
Cardiomyopathy, Dilated, 1L
Reduced systolic function, Sudden cardiac death, Increased left ventricular end-diastolic volume,... OMIM:606685
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy, Congestive heart failure, Reduced systolic function OMIM:604765
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Dilated cardiomyopathy, Congestive heart failure, Sudden card... OMIM:605362
Cardiomyopathy, Dilated, 1Z
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure OMIM:611879
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... OMIM:615396
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function 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
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular no... OMIM:601493
Cardiomyopathy, Dilated, 1K
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure OMIM:605582
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... OMIM:600884
Left Ventricular Noncompaction 8
Mitral regurgitation, Left ventricular noncompaction, Arrhythmia, Dilated cardiomyopathy, Left ve... OMIM:615373
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Subvalvular aortic stenosis, Arrhythmia, Congestive heart failure OMIM:192600
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Cardiomyopathy, Dilated, 1U
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613694
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure OMIM:613642
Cardiomyopathy, Dilated, 1Bb
Left bundle branch block, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:612877
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Cardiomyopathy, Dilated, 1Kk
Mitral regurgitation, Left ventricular hypertrophy, Increased left ventricular end-diastolic volu... OMIM:615248
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... OMIM:608751
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Mitral regurgitation, Sudd... OMIM:604169
Cardiomyopathy, Dilated, 1V
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613697
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Dilated cardiomyopathy, Congestive heart failure OMIM:614672
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... OMIM:613251
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Decreased circulating IgG level, Epididymitis, Increased circula... OMIM:608106
Immunodeficiency 24
Defective T cell proliferation, Decreased circulating IgG level, Decreased specific pneumococcal ... OMIM:615897
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Cardiomyopathy, Familial Hypertrophic 27
Cardiac arrest, Tricuspid regurgitation, Concentric hypertrophic cardiomyopathy, Right ventricula... OMIM:618052
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Arrhythmia, Abnormal heart valve morphology, Hypertension, Hypertrophic cardi... ORPHA:1345
Loeffler Endocarditis
Myocardial fibrosis, Aortic valve stenosis, Abnormal morphology of the chordae tendinae of the mi... ORPHA:75566
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... OMIM:612098
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Familial Cutaneous Collagenoma
Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure ORPHA:53296
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... OMIM:604145
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy,... OMIM:617222
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Congestive heart failure OMIM:615440
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... OMIM:619747
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Arrhythmia, Syncope, Heart block, Congestive heart failure ORPHA:871
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure OMIM:236750
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal heart valve morphology, Congestive heart failure, Heart murmur ORPHA:3400
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure OMIM:301021
Combined Oxidative Phosphorylation Deficiency 23
Arrhythmia, Cardiomyopathy, Congestive heart failure OMIM:616198
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Ventricul... ORPHA:300751
Coronary Arterial Fistula
Angina pectoris, Systolic heart murmur, Pedal edema, Cardiomegaly, Abnormal heart morphology, Pal... ORPHA:2041
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal ST segment, Arrhythmia, Abnormal left ventricle morphology, Congestive ... ORPHA:1055
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia, Edema, Congestive hea... OMIM:605676
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Familial Dilated Cardiomyopathy
Left bundle branch block, Mitral regurgitation, Palpitations, Left ventricular hypertrophy, Eleva... ORPHA:217607
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Atrioventricular... OMIM:600858
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Endocardial fibroelastosis, Congestive heart failure ORPHA:2022
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Decreased circulating IgG level OMIM:247630
Atrial Standstill
Abnormal heart morphology, Ventricular escape rhythm, Abnormal P wave, Atrial standstill, Palpita... ORPHA:1344
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... ORPHA:439
Familial Atrial Myxoma
Bacterial endocarditis, Tricuspid regurgitation, Cardiomegaly, Heart murmur, Pulmonic valve myxom... ORPHA:615
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... OMIM:607450
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Permanent atrial fibrillation, Right atrial enlargement, Left bun... OMIM:617047
Fixed Subaortic Stenosis
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Abnormal hear... ORPHA:3092
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased lef... OMIM:601494
Butyrylcholinesterase Deficiency
Myocardial infarction, Congestive heart failure ORPHA:132
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Left bundle branch block, Congestive heart failure, Pulmonary edema, My... OMIM:115197
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Supraventricular tachycardia, Premature atrial contractions, Atrial ... ORPHA:99105
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Congestive heart failure OMIM:618234
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Immunodeficiency 95
Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Tricuspid regurgitation, Pulmonic stenosis, Hydrops fetalis, Pleural effusion, ... ORPHA:2414
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level OMIM:242870
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Right atrial enlargement, Tricuspid regur... ORPHA:99095
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Atrial arrhythmia, Aortic valve stenosis, Restrictive cardi... ORPHA:85451
Cardiomyopathy, Dilated, 1Y
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Ebstein anomaly of the tricu... OMIM:611878
Ebstein Malformation Of The Tricuspid Valve
Imperforate tricuspid valve, Abnormal cardiac septum morphology, Atrial septal defect, Sudden car... ORPHA:1880
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Tricuspid regurgitation, Mitral regurgitation, Short chordae tendineae of ... OMIM:314400
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Hypotension, Heart murmur, Pulmonary arterial hypert... ORPHA:95459
Atransferrinemia
Congestive heart failure OMIM:209300
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Cardiac shunt, Abnormal mitral valve morphology, Anomalous p... ORPHA:860
Atrioventricular Septal Defect 3
Inlet ventricular septal defect, Primum atrial septal defect, Atrioventricular canal defect, Mids... OMIM:600309
Immunodeficiency 25
Increased circulating IgA level, Complete or near-complete absence of specific antibody response ... OMIM:610163
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Left ventricular hypertrophy, Dilated cardiomyopathy, Congestive heart failure ORPHA:206546
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Pedal edema, Hypertension,... ORPHA:563
Idiopathic Pulmonary Arterial Hypertension
Edema of the dorsum of feet, Tricuspid regurgitation, Right ventricular hypertrophy, Palpitations... ORPHA:275766
Combined Oxidative Phosphorylation Deficiency 22
Pulmonary arterial hypertension, Congestive heart failure OMIM:616045
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Cirrhotic Cardiomyopathy
Right atrial enlargement, Pulmonary edema, Abnormal bleeding, Third heart sound, Left ventricular... ORPHA:57777
Maternally-Inherited Diabetes And Deafness
Hypertension, Hypertrophic cardiomyopathy, Arrhythmia, Congestive heart failure ORPHA:225
Arterial Calcification, Generalized, Of Infancy, 2
Myocardial infarction, Hypertension, Congestive heart failure OMIM:614473
Naxos Disease
Sudden cardiac death, Paroxysmal ventricular tachycardia, Arrhythmia, Cardiomyopathy, Congestive ... ORPHA:34217
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Paroxysmal atrial tachycardia, Ventricular septal defect, Cardiac arrest, C... ORPHA:49827
Stuve-Wiedemann Syndrome 2
Pulmonary arterial hypertension, Stillbirth, Neonatal death, Congestive heart failure OMIM:619751
Familial Dyskinesia And Facial Myokymia
Dilated cardiomyopathy, Congestive heart failure ORPHA:324588
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Arrhythmia, Cardiomyopathy, Congestive heart failure OMIM:602390
Klippel-Trénaunay Syndrome
Atrial septal defect, Hydrops fetalis, Pulmonary embolism, Internal hemorrhage, Edema, Gastrointe... ORPHA:90308
Combined Oxidative Phosphorylation Deficiency 28
Polyhydramnios, Congestive heart failure OMIM:616794
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Impaired Ig class switch recombination, Decreased circulating Ig... OMIM:605258
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly, Congestive heart failure OMIM:618654
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... OMIM:540000
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Left ventricular hypertrophy, Bradycardia, Congestive heart failure OMIM:619048
Desminopathy
Supraventricular arrhythmia, Concentric hypertrophic cardiomyopathy, Sudden cardiac death, Atriov... ORPHA:98909
Hb Bart'S Hydrops Fetalis
Hydrops fetalis, Polyhydramnios, Pericarditis, Oligohydramnios, Congestive heart failure ORPHA:163596
Sandhoff Disease
Congestive heart failure ORPHA:796
Morbid Obesity And Spermatogenic Failure
Myocardial infarction, Hypertension, Congestive heart failure OMIM:615703
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Abnormal P wave, Primum atrial septal defect, Left-to-right shunt,... ORPHA:1329
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased c... OMIM:619707
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Low-output congestive heart failure ORPHA:91130
Hemochromatosis, Type 2B
Cardiomyopathy, Congestive heart failure OMIM:613313
Non-Involuting Congenital Hemangioma
Telangiectasia of the skin, Congestive heart failure ORPHA:141179
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Tricuspid regurgitation, Mitral regurgitation, Sudden cardiac death, Left ... OMIM:613426
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Myopathy, Myosin Storage, Autosomal Recessive
Right axis deviation, Dilated cardiomyopathy, Elevated jugular venous pressure, Biventricular hyp... OMIM:255160
3-Methylglutaconic Aciduria, Type V
Sudden cardiac death, Noncompaction cardiomyopathy, Dilated cardiomyopathy, Prolonged QT interval... OMIM:610198
Glycogen Storage Disease Of Heart, Lethal Congenital
Pulmonary edema, Hypotension, Shortened PR interval, Biventricular hypertrophy, Bradycardia, Asci... OMIM:261740
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... ORPHA:99106
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Abnormal mitral valve morphology, Systolic heart murmur, Pedal edema... ORPHA:99103
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Sick sinus syndrome, Ventricular septal defect, Ab... ORPHA:216694
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Vasculitis, Atrial fibrillation, Cardi... OMIM:115250
Immunodeficiency 44
Decreased circulating IgA level, Decreased circulating total IgM, Abnormal circulating IgG level OMIM:616636
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Increased circulating IgG level OMIM:618982
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Decreased circulating total IgM, Reduced isohemagglutinin level,... OMIM:613493
Rapidly Involuting Congenital Hemangioma
Telangiectasia of the skin, Congestive heart failure ORPHA:141184
Immunodeficiency 64
Decreased lymphocyte proliferation in response to mitogen, Increased circulating IgA level, Decre... OMIM:618534
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased c... OMIM:613502
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Increased circulating IgG level OMIM:619220
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr... ORPHA:2299
Whim Syndrome 1
Abnormal morphology of female internal genitalia, Abnormality of female external genitalia, Decre... OMIM:193670
Myeloma, Multiple
Paraproteinemia OMIM:254500
Caspase 8 Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:607271
Naxos Disease
Abnormal heart morphology, Prolonged QRS complex, Premature ventricular contraction, Right ventri... OMIM:601214
Wild Type Attr Amyloidosis
Pulmonary edema, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Myocardial inf... ORPHA:330001
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Prolonged QT interva... ORPHA:66529
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Hyperte... ORPHA:1457
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 27 concentration, Increased circulating IgA level, Reduced circul... OMIM:619632
Infantile Sialic Acid Storage Disease
Hydrops fetalis, Ascites, Cardiomegaly, Congestive heart failure OMIM:269920
Dk1-Cdg
Arrhythmia, Cardiomyocyte hypertrophy, Interstitial cardiac fibrosis, Dilated cardiomyopathy, Con... ORPHA:91131
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
Congenital Muscular Dystrophy Due To Lmna Mutation
Arrhythmia, Congestive heart failure ORPHA:157973
Mulibrey Nanism
Myocardial fibrosis, Hydrops fetalis, Pericardial constriction, Ascites, Cardiomegaly, Congestive... OMIM:253250
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:300400
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Abnormal pulmonary valve morphology, Hypertrophic cardiomyopathy, Arrhythmia, Abnormal aortic val... ORPHA:1194
Pseudoxanthoma Elasticum
Angina pectoris, Intermittent claudication, Mitral stenosis, Restrictive cardiomyopathy, Weak pul... OMIM:264800
Cardiogenic Shock
Abnormal left ventricular function, Low pulse pressure, Increased pulmonary capillary wedge press... ORPHA:97292
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Cednik Syndrome
Congestive heart failure ORPHA:66631
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating total IgM, Decreased cir... OMIM:618944
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertension, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure ORPHA:1349
Carnitine Deficiency, Systemic Primary
Endocardial fibroelastosis, Hypertrophic cardiomyopathy, Cardiomegaly, Congestive heart failure OMIM:212140
American Trypanosomiasis
Arrhythmia, Myocarditis, Periorbital edema, Edema, Achalasia, Cardiomyopathy, Congestive heart fa... ORPHA:3386
Cardiac Diverticulum
Angina pectoris, Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... ORPHA:1686
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Pericardial Effusion, Chronic
Pericardial effusion, Constrictive pericarditis OMIM:260900
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Dilated cardiomyopathy, Congestive heart failure OMIM:606703
Transcobalamin Deficiency
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... ORPHA:859
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Arrhythmia, Congestive heart failure ORPHA:85446
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal heart morphology, Hypertrophic cardiomyopathy, Congestive heart failure ORPHA:70472
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Right ventricular outlet tract obstruction, Left ventricular hypertrophy, ... ORPHA:99094
Refsum Disease, Classic
Arrhythmia, Cardiomyopathy, Cardiomegaly, Congestive heart failure OMIM:266500
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Atri... ORPHA:324410
Aneurysm Of Sinus Of Valsalva
Bacterial endocarditis, Heart murmur, Aortic regurgitation, Edema, Congestive heart failure ORPHA:1054
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Hemochromatosis, Type 1
Arrhythmia, Pleural effusion, Telangiectasia, Ascites, Cardiomyopathy, Cardiomegaly, Congestive h... OMIM:235200
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pleural effusion, Generalized edema, Stillbirth, Peric... OMIM:618773
Polymyositis
Abnormal mitral valve morphology, Arrhythmia, Vasculitis, Myocardial infarction, Abnormal atriove... ORPHA:732
Agammaglobulinemia 6, Autosomal Recessive
Agammaglobulinemia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased c... OMIM:612692
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Polyhydramnios, Atrial septal defect, Congestive heart failure ORPHA:500533
Acquired Aneurysmal Subarachnoid Hemorrhage
ST segment depression, Cerebral hemorrhage, Left ventricular hypertrophy, Cerebral ischemia, Sync... ORPHA:90065
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgG level, Decreased lymphocyte apoptosis,... OMIM:601859
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Right ventricular hypertrophy, Left ventricular hypertrophy, Seve... ORPHA:444013
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... OMIM:171420
Fabry Disease
Angina pectoris, Left ventricular hypertrophy, Arrhythmia, Myocardial infarction, Lymphedema, Ven... OMIM:301500
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Gonadal dysgenesis, Decreased c... OMIM:611926
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Hutchinson-Gilford Progeria Syndrome
Angina pectoris, Myocardial infarction, Congestive heart failure OMIM:176670
Kimura Disease
Increased circulating IgE level, Abnormal salivary gland morphology ORPHA:482
Craniofaciofrontodigital Syndrome
Persistent fetal circulation, Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect,... ORPHA:363705
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Hydrops Fetalis
Nonimmune hydrops fetalis, Arrhythmia, Polyhydramnios, Lymphedema, Pleural effusion, Generalized ... ORPHA:1041
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Nonimmune hydrops fetalis, Polyhydramnios, Dilated cardiomyopathy, Portal hypertension, Abnormal ... ORPHA:367
Maternal Uniparental Disomy Of Chromosome X
Predominantly lower limb lymphedema, Congestive heart failure ORPHA:261519
Classic Multiminicore Myopathy
Mitral valve prolapse, Right ventricular failure, Right ventricular hypertrophy, Congestive heart... ORPHA:324604
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Partial atrioventricular canal defect, Bicuspid aortic valve, Atrial septal defect, Tricuspid reg... OMIM:620066
Absence Of The Pulmonary Artery
Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect, Pulmonary ed... ORPHA:980
Immune-Mediated Necrotizing Myopathy
Palpitations, Raynaud phenomenon, Myocarditis, Congestive heart failure ORPHA:206569
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:94080
Capillary Malformation-Arteriovenous Malformation
Abnormal heart morphology, High-output congestive heart failure, Chylothorax, Abnormal bleeding, ... ORPHA:137667
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Ectodermal Dysplasia And Immunodeficiency 1
Increased circulating IgA level, Abnormal circulating IgG level, Aplasia of the eccrine sweat gla... OMIM:300291
Nephrosialidosis
Ascites, Pericardial effusion OMIM:256150
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cerebral edema, Congestive heart failure OMIM:611126
Babesiosis
Myocardial infarction, Congestive heart failure ORPHA:108
Muscular Dystrophy, Duchenne Type
Arrhythmia, Dilated cardiomyopathy, Abnormal EKG, Cardiomyopathy, Congestive heart failure OMIM:310200
Scimitar Syndrome
Tricuspid atresia, Abnormal heart morphology, Double outlet right ventricle, Anomalous pulmonary ... ORPHA:185
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure ORPHA:90037
Barth Syndrome
Tricuspid regurgitation, Arrhythmia, Increased left ventricular end-diastolic volume, Endocardial... OMIM:302060
Immunodeficiency 14A, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Increased circu... OMIM:615513
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level OMIM:247800
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Left-to-right shunt, Left ventricular outflow tract... ORPHA:99050
Acyl-Coa Dehydrogenase 9 Deficiency
Cerebellar hemorrhage, Sudden cardiac death, Dilated cardiomyopathy, Hypertrophic cardiomyopathy,... ORPHA:99901
Primary Lipodystrophy
Angina pectoris, Hypertension, Cardiomyopathy, Congestive heart failure ORPHA:90970
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Secundum atrial septal defect, Patent foramen ovale, Oligohydramnios, Cardiomyopathy, Congestive ... OMIM:616866
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Abnormal left ventricular function, Right atrial enlargement, Abnormal T-wave, Rig... ORPHA:70591
Primary Effusion Lymphoma
Pericardial effusion, Pleural effusion ORPHA:48686
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619824
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level OMIM:312863
Graves Disease, Susceptibility To, 1
Congestive heart failure OMIM:275000
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Dilated cardiomyopathy, Hypertension, Cardiomegaly, Congestive heart failure OMIM:208000
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Mitral regurgitation, Pulmonary insufficiency, Heart murmur, Aorti... ORPHA:2326
Hereditary Hemorrhagic Telangiectasia
Telangiectasia of the skin, Mucosal telangiectasiae, Cerebral hemorrhage, Retinal telangiectasia,... ORPHA:774
Proteasome-Associated Autoinflammatory Syndrome 2
Abnormal circulating IgM level, Increased circulating IgA level, Increased circulating IgG level OMIM:618048
Eosinophilic Granulomatosis With Polyangiitis
Abnormal pericardium morphology, Recurrent intrapulmonary hemorrhage, Endocarditis, Myocarditis, ... ORPHA:183
Autoimmune Hemolytic Anemia
Arrhythmia, Congestive heart failure ORPHA:98375
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169154
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level OMIM:615767
Immunodeficiency 70
Decreased circulating total IgA, Decreased circulating total IgM, Decreased circulating antibody ... OMIM:618969
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
Pancreatic insufficiency, combined exocrine
Anasarca, Congestive heart failure OMIM:260450
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Cardiomyopathy, Congestive heart failure ORPHA:52430
Immunodeficiency 27A
Increased circulating IgM level, Increased circulating IgG level OMIM:209950
Amoebiasis Due To Entamoeba Histolytica
Abnormal pericardium morphology, Pleural empyema, Constrictive pericarditis, Pleural effusion, Co... ORPHA:67
Gm1-Gangliosidosis, Type I
Hydrops fetalis, Dilated cardiomyopathy, Abnormal heart valve morphology, Hypertrophic cardiomyop... OMIM:230500
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Tricuspid ... ORPHA:555874
Microscopic Polyangiitis
Subcutaneous hemorrhage, Arrhythmia, Vasculitis, Gastrointestinal hemorrhage, Pericarditis, Epist... ORPHA:727
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypoplasia of the thymus, Reduced delayed hypersensitivity, Increased circulating IgM level, Redu... OMIM:617241
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Igg4-Related Submandibular Gland Disease
Increased circulating antibody level, Prostatitis, Abnormal pancreas morphology, Sialadenitis, Co... ORPHA:449432
Immunodeficiency 105
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... OMIM:619924
Lymphatic Malformation 7
Pulmonary edema, Facial edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema... OMIM:617300
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Increased circulating IgE level, Increased circulating IgG level OMIM:243700
Friedreich Ataxia
Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure OMIM:229300
Carney Complex, Type 1
Cardiac myxoma, Congestive heart failure OMIM:160980
Immunodeficiency 14B, Autosomal Recessive
Reduced natural killer cell activity, Decreased circulating IgA level, Decreased circulating IgG ... OMIM:619281
Simple Cryoglobulinemia
Abnormal heart morphology, Raynaud phenomenon, Vasculitis, Myocardial infarction, Purpura, Gastro... ORPHA:91139
Mitochondrial Trifunctional Protein Deficiency
Dilated cardiomyopathy, Arrhythmia, Hydrops fetalis, Congestive heart failure OMIM:609015
Spinal Arteriovenous Metameric Syndrome
Congestive heart failure ORPHA:53721
Symptomatic Form Of Hemochromatosis Type 1
Joint swelling, Arrhythmia, Portal hypertension, Cardiomegaly, Cardiomyopathy, Congestive heart f... ORPHA:465508
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Impaired T cell function, Decreased circulating total IgM, Decre... OMIM:607594
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Partial absence of specific antibody response to unconjugated pn... OMIM:240500
Igg4-Related Aortitis
Increased circulating IgG4 level, Complement deficiency, Increased circulating IgE level, Increas... ORPHA:449400
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgA level, Increased circulating IgG level, Decreased lymphocyte apoptosis,... OMIM:603909
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
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Pulmonary arterial hypertension, Congestive heart failure OMIM:616482
Colchicine Poisoning
Hypovolemia, Dehydration, Arrhythmia, Cardiogenic shock, Hypotension, Myocarditis, Congestive hea... ORPHA:31824
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Cardiomegaly, Congestive heart failure OMIM:619259
Pheochromocytoma
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Episodic hypertension, Congest... OMIM:171300
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Mitral regurgitation, Left ventricular hypertrophy, Arrhythmia, Cardiomy... ORPHA:746
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Decre... ORPHA:276
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level ORPHA:206594
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Aplasia of the ovary, Elevated circulating follic... OMIM:614324
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating IgG level OMIM:618495
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Elevated circulat... ORPHA:90797
Aarskog-Scott Syndrome
Congestive heart failure ORPHA:915
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Congestive heart failure ORPHA:90033
Familial Partial Lipodystrophy, Dunnigan Type
Hypertrophic cardiomyopathy, Congestive heart failure ORPHA:2348
Waldenström Macroglobulinemia
Retinal hemorrhage, Vasculitis, Gingival bleeding, Pedal edema, Purpura, Periorbital edema, Pleur... ORPHA:33226
Pparg-Related Familial Partial Lipodystrophy
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure ORPHA:79083
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Pulmonary edema, Tachycardia, Junct... ORPHA:137675
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pulmonary edema, Sudden cardiac death, Dilated cardiomyopathy, Pericardial effusion, Congestive h... ORPHA:73224
African Iron Overload
Abnormal heart morphology, Congestive heart failure ORPHA:139507
Fabry Disease
Angina pectoris, Telangiectasia of the skin, Bundle branch block, Mucosal telangiectasiae, Mitral... ORPHA:324
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Xerostomia, Hypertensive crisis, Pulmonary arterial hypertension, Con... ORPHA:220393
Congenital Generalized Lipodystrophy
Hypertrophic cardiomyopathy, Congestive heart failure ORPHA:528
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Mitral regurgitation, Intracranial hemorrhage, Mitral valve calcification,... ORPHA:363618
Acquired Idiopathic Sideroblastic Anemia
Abnormal bleeding, Congestive heart failure ORPHA:75564
Boutonneuse Fever
Increased circulating IgM level, Increased circulating IgG level ORPHA:83313
Pediatric-Onset Graves Disease
Sinus tachycardia, Palpitations, Hypertension, Atrial fibrillation, Oligohydramnios, Congestive h... ORPHA:525731
Angiostrongyliasis
Increased circulating specific IgE antibody, Increased circulating IgA level, Increased circulati... ORPHA:74
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:276621
Cutis Laxa, Autosomal Recessive, Type Iid
Hypertrophic cardiomyopathy, Atrial septal defect, Right bundle branch block, Congestive heart fa... OMIM:617403
Multiple Acyl-Coa Dehydrogenase Deficiency
Abnormal heart morphology, Arrhythmia, Cardiomyopathy, Congestive heart failure ORPHA:26791
Monosomy 18Q
Absence of the pulmonary valve, Aortic valve stenosis, Secundum atrial septal defect, Dysplastic ... ORPHA:1600
Leigh Syndrome With Cardiomyopathy
Pulmonic stenosis, Mitral regurgitation, Dilated cardiomyopathy, Cardiac conduction abnormality, ... ORPHA:70474
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... OMIM:308230
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Aortic valve stenosis, Atrial septal defect, Dysplastic pulmonary... OMIM:601808
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Right atrial enlargement, Restrictive cardiomyopathy, Nonimmune hydrops fetalis, Endocardial fibr... OMIM:619313
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Heart murmur, Shortened... ORPHA:308552
Gm1 Gangliosidosis
Hydrops fetalis, Ventricular septal defect, Cardiomyopathy, Congestive heart failure, Abnormal he... ORPHA:354
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Immunodeficiency 96
Defective T cell proliferation, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:619774
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level OMIM:615285
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgE, Decreased circulating IgA level, Decreased circulating IgG level, Decr... OMIM:618394
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Left ventricular hypertrophy, Cerebral edema, Congestive heart failure OMIM:619355
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Increased circulating IgG level OMIM:617388
Cutis Laxa, Autosomal Dominant 1
Ventricular septal defect, Mitral regurgitation, Aortic regurgitation, Congestive heart failure OMIM:123700
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Decreased circulating IgA level, Partial absen... OMIM:301082
Hyperkalemic Periodic Paralysis
Arrhythmia, Congestive heart failure ORPHA:682
Mucopolysaccharidosis-Plus Syndrome
Hypertrophic cardiomyopathy, Atrial septal defect, Congestive heart failure OMIM:617303
Tetrasomy 5P
Pulmonary arterial hypertension, Congestive heart failure, Heart murmur ORPHA:3309
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Hemothorax, Right ventricular failure, Elevated pulmonary artery pressure, Pedal... ORPHA:199241
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Hematochezia OMIM:615895
Scorpion Envenomation
Bundle branch block, Pulmonary edema, Premature ventricular contraction, ST segment depression, T... ORPHA:466677
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Reduced natural killer cell activity, Decreased circulating anti... OMIM:308240
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormal heart morphology, Atrial septal defect, Tricuspid regurgitation, Hypertrophic cardiomyop... ORPHA:505248
Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Palpitations, Arrhythmia, Low-output congestive heart failure, Abnormal cardiomy... ORPHA:565612
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Myocarditis, Myocardial infarction, Dilated cardiomyopathy, Abnormal ... ORPHA:3342
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level OMIM:251190
3-Methylglutaconic Aciduria, Type Viib
Abnormal bleeding, Dehydration, Polyhydramnios, Prolonged prothrombin time, Congestive heart failure OMIM:616271
Mucopolysaccharidosis, Type Ii
Abnormal heart valve morphology, Congestive heart failure OMIM:309900
Ethylene Glycol Poisoning
Pulmonary edema, Tachycardia, Hypotension, Shock, Cerebral edema, Hypertension, Atrial fibrillati... ORPHA:31826
Multiple Benign Circumferential Skin Creases On Limbs
Edema, Congestive heart failure ORPHA:2505
Schimke Immuno-Osseous Dysplasia
Cerebral ischemia, Ischemic stroke, Hypertension, Transient ischemic attack, Pulmonary arterial h... ORPHA:1830
Friedreich Ataxia And Congenital Glaucoma
Concentric hypertrophic cardiomyopathy, Muscular subvalvular aortic stenosis, Abnormal EKG, Hyper... OMIM:229310
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Martsolf Syndrome 1
Cardiac arrest, Cardiomyopathy, Congestive heart failure OMIM:212720
Mucopolysaccharidosis Type 1
Abnormal heart valve morphology, Hypertrophic cardiomyopathy, Abnormal aortic valve morphology, C... ORPHA:579
Congenital Disorder Of Glycosylation, Type Iie
Abnormal heart morphology, Congestive heart failure OMIM:608779
Alstrom Syndrome
Hypertension, Dilated cardiomyopathy, Congestive heart failure OMIM:203800
Seckel Syndrome 10
Ventricular hypertrophy, Hypertension, Congestive heart failure OMIM:617253
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level OMIM:619705
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgA level, Decreased circulating antibody level, Decreased circulating IgG ... OMIM:617062
Malignant Hyperthermia Of Anesthesia
Supraventricular tachycardia, High-output congestive heart failure, Premature ventricular contrac... ORPHA:423
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Supraventricular arrhythmia, Ventricular arrhythmia, Abnormal atrioventricular conduction, Hypert... ORPHA:280365
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Hereditary Amyloidosis With Primary Renal Involvement
Petechiae, Purpura, Gastrointestinal hemorrhage, Hypertension, Congestive heart failure ORPHA:85450
Hereditary Pheochromocytoma-Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:29072
Friedreich Ataxia 2
Muscular subvalvular aortic stenosis, Abnormal EKG, Congestive heart failure, Concentric hypertro... OMIM:601992
Vici Syndrome
Left ventricular hypertrophy, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure OMIM:242840
Lymphangiectasia, Intestinal
Decreased circulating IgG level OMIM:152800
Erdheim-Chester Disease
Joint swelling, Abnormal pericardium morphology, Abnormal aortic valve morphology, Pleural effusi... ORPHA:35687
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level OMIM:202700
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgE, Decreased circulating IgA level, Decreased circulating IgG level, Decr... OMIM:619510
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgA level, Increased circulating IgG level OMIM:615934
Mu-Heavy Chain Disease
Increased circulating antibody level ORPHA:100024
Angioosteohypertrophic Syndrome
Tricuspid valve prolapse, Telangiectasia of the skin, Pulmonary embolism, Lymphedema, Gastrointes... ORPHA:2346
Werner Syndrome
Telangiectasia of the skin, Hypertension, Myocardial infarction, Congestive heart failure ORPHA:902
Immunodeficiency 23
Increased circulating IgM level, Increased circulating IgE level, Increased circulating IgG level OMIM:615816
Immunodeficiency 43
Decreased circulating IgG level OMIM:241600
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Bruising susceptibility, Abnormal bleeding, Mitral valve prolapse, Arterial rupture, Congestive h... ORPHA:1900
Autoimmune Hepatitis
Increased circulating antibody level, Increased circulating IgG level ORPHA:2137
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619752
Kawasaki Disease
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:2331
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased lymphocyte proliferation in response to mitogen, Increased circulating antibody level, ... ORPHA:169160
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Increased circulating IgG level, Decreased T cell activation, Ano... OMIM:618213
Avian Influenza
Pleural effusion, Congestive heart failure ORPHA:454836
Igg4-Related Thyroid Disease
Abnormality of the pituitary gland, Sialadenitis, Euthyroid goiter, Pancreatic fibrosis, Increase... ORPHA:64744
Immunodeficiency 67
Increased circulating IgE level OMIM:607676
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure ORPHA:508542
Idiopathic Hypereosinophilic Syndrome
Supraventricular arrhythmia, Joint swelling, Vasculitis in the skin, Raynaud phenomenon, Intracra... ORPHA:3260
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased circulating antibody level, Absent isohemagglutinin level, Decreased serum complement C... OMIM:615559
Immunodeficiency, Common Variable, 10
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:615577
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating IgG ... OMIM:616100
Telangiectasia, Hereditary Hemorrhagic, Type 4
High-output congestive heart failure, Cerebral hemorrhage, Right-to-left shunt, Subarachnoid hemo... OMIM:610655
Geleophysic Dysplasia 1
Tricuspid stenosis, Mitral stenosis, Aortic valve stenosis, Congestive heart failure OMIM:231050
Autoimmune Lymphoproliferative Syndrome
Decreased specific anti-polysaccharide antibody level, Increased circulating antibody level, Decr... ORPHA:3261
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Decreased lymphocyte apoptosis OMIM:614470
Pgm3-Cdg
Increased circulating IgA level, Increased circulating IgG level, Reduced antigen-specific T cell... ORPHA:443811
Chilblain Lupus
Increased circulating antibody level ORPHA:90280
Caffey Disease
Increased circulating antibody level ORPHA:1310
Leigh Syndrome
Ventricular septal defect, Hypertrophic cardiomyopathy, Congestive heart failure ORPHA:506
Autosomal Recessive Cutis Laxa Type 1
Dilatation of the ventricular cavity, Abnormal cardiac ventricular function, Supravalvular aortic... ORPHA:90349
Insulin-Resistance Syndrome Type B
Decreased serum complement factor B, Increased circulating IgA level, Increased circulating IgG l... ORPHA:2298
Mucolipidosis Ii Alpha/Beta
Mitral regurgitation, Palpebral edema, Heart murmur, Aortic regurgitation, Hypertrophic cardiomyo... OMIM:252500
Igg4-Related Kidney Disease
Prostatitis, Increased circulating IgG1 level, Sialadenitis, Decreased serum complement C3, Compl... ORPHA:449395
Immunodeficiency 92
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating IgA level... OMIM:619652
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Palpitations, Ventricular arrhythmia, Hypotension, Hypertension, Per... ORPHA:91347
Triosephosphate Isomerase Deficiency
Oligohydramnios, Congestive heart failure OMIM:615512
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgA level, Decre... ORPHA:331206
Congenital Total Pulmonary Venous Return Anomaly
Double outlet right ventricle, Cardiac total anomalous pulmonary venous connection, Atrial septal... ORPHA:99125
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Pulmonic stenosis, Mitral regurgitation, Ventricular septal defect, Conges... OMIM:608328
Charcot-Marie-Tooth Peroneal Muscular Atrophy And Friedreich Ataxia, Combined
Muscular subvalvular aortic stenosis, Abnormal EKG, Congestive heart failure, Concentric hypertro... OMIM:302900
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Hypertension, Pleural effusion, Pericardial effusion, Granulomatous coronary arteritis OMIM:108050
Multiple Myeloma
Increased circulating IgA level, Decreased circulating antibody level, Increased circulating IgG ... ORPHA:29073
Autosomal Dominant Hypocalcemia
Arrhythmia, Hypotension, Congestive heart failure ORPHA:428
Aceruloplasminemia
Congestive heart failure ORPHA:48818
Incontinentia Pigmenti
Telangiectasia of the skin, Retinal hemorrhage, Cerebral ischemia, Pulmonary arterial hypertensio... ORPHA:464
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level OMIM:600351
Telangiectasia, Hereditary Hemorrhagic, Type 1
Melena, Telangiectasia of the skin, Hemothorax, Pulmonary hemorrhage, Subarachnoid hemorrhage, He... OMIM:187300
Dyskeratosis Congenita, Digenic
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:620040
Transcobalamin Ii Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:275350
Abetalipoproteinemia
Abnormal bleeding, Prolonged prothrombin time, Cardiomegaly, Congestive heart failure ORPHA:14
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgM level, Abnormality of the ductus choledochus, Increased circulating IgG... ORPHA:562639
Myotonic Dystrophy 2
Decreased circulating IgG level, Decreased circulating total IgM, Oligospermia, Hypogonadism, Ele... OMIM:602668
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Arterial rupture, Bruising susceptibility, Congestive heart failure OMIM:225400
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Pulmonary arterial hypertension, Patent foramen ovale, Congestive heart failure, Renovascular hyp... ORPHA:391487
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level ORPHA:99965
Listeriosis
Endocarditis, Myocarditis, Pericarditis, Arteritis, Congestive heart failure ORPHA:533
Immunodeficiency 36
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgM level OMIM:616005
Agammaglobulinemia, X-Linked
Decreased circulating IgA level, Prostatitis, Decreased circulating IgG level, Complete or near-c... OMIM:300755
Diamond-Blackfan Anemia 1
Tricuspid stenosis, Ventricular septal defect, Atrial septal defect, Congestive heart failure OMIM:105650
Netherton Syndrome
Increased circulating IgE level, Decreased circulating IgG level OMIM:256500
Diarrhea 10, Protein-Losing Enteropathy Type
Hematochezia, Polyhydramnios, Anasarca, Pleural effusion, Ascites, Pericardial effusion OMIM:618183
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Cryptorchidism, Small pituitary gland, Streak ovary, Hypergonadotropic hypogonadism, Agonadism, A... ORPHA:2232
Marfan Syndrome
Tricuspid valve prolapse, Mitral annular calcification, Bicuspid aortic valve, Tricuspid regurgit... OMIM:154700
Dominant Beta-Thalassemia
Dilated cardiomyopathy, Arrhythmia, High-output congestive heart failure ORPHA:231226
Neutral Lipid Storage Myopathy
Cardiomyopathy, Congestive heart failure ORPHA:98908
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir... ORPHA:35078
Coccidioidomycosis
Increased circulating IgG level, Abnormality of the male genitalia, Abnormality of the female gen... ORPHA:228123
Tick-Borne Encephalitis
Abnormality of serum cytokine level, Increased circulating IgM level, Increased circulating IgG l... ORPHA:297
Primary Sclerosing Cholangitis
Palmar telangiectasia, Spider hemangioma, Portal hypertension, Pleural effusion, Ascites, Prolong... ORPHA:171
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Abnormal salivary gland morphology, Increased circulating IgG4 l... ORPHA:79078
Rift Valley Fever
Increased circulating IgM level, Increased circulating IgG level ORPHA:319251
Cardiac-Urogenital Syndrome
Atrial septal defect, Hypoplastic left heart, Scimitar anomaly, Tachycardia, Tetralogy of Fallot,... OMIM:618280
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating antibody level, Increased circulating interleukin 6 concentration, Increase... OMIM:256040
Spinocerebellar Ataxia Type 7
Congestive heart failure ORPHA:94147
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Patent foramen ovale, Pulmonary arterial hypertension, Congestive hear... ORPHA:444077
Mogs-Cdg
Hydrocele testis, Decreased circulating IgA level, Decreased circulating IgG level, External geni... ORPHA:79330
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgA level, Decreased circulating IgG level ORPHA:275
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Cry... ORPHA:79324
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level ORPHA:69126
Beta-Thalassemia Major
Dilated cardiomyopathy, Arrhythmia, High-output congestive heart failure ORPHA:231214
Immunodeficiency 97 With Autoinflammation
Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating IgG ... OMIM:619802
Beta-Thalassemia Intermedia
Pulmonary arterial hypertension, High-output congestive heart failure ORPHA:231222
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Igg4-Related Ophthalmic Disease
Prostatitis, Sialadenitis, Orchitis, Increased circulating IgG4 level, Enlarged lacrimal glands, ... ORPHA:449563
Autosomal Dominant Cutis Laxa
Dilatation of the ventricular cavity, Mitral regurgitation, Aortic regurgitation, Congestive hear... ORPHA:90348
Vici Syndrome
Decreased circulating IgG2 level, Decreased circulating IgG level ORPHA:1493
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased lymphocyte proliferation in response to anti-CD3, Partial absence of specific antibody ... OMIM:618986
Williams Syndrome
Abnormal cardiac septum morphology, Sudden cardiac death, Ventricular septal defect, Myocardial i... ORPHA:904
Primary Intestinal Lymphangiectasia
Decreased circulating antibody level, Decreased circulating IgA level, Decreased circulating IgG ... ORPHA:90362
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bicuspid aortic valve, Palpebral edema, Heart murmur, Ventricular septal defect, Aortic regurgita... OMIM:619475
Hallermann-Streiff Syndrome
Congestive heart failure ORPHA:2108
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Decreased circulating IgG level OMIM:608809
Igg4-Related Pachymeningitis
Increased circulating IgG4 level, Complement deficiency, Parotitis ORPHA:449427
Marfan Syndrome
Mitral valve prolapse, Mitral valve calcification, Congestive heart failure ORPHA:558
Tularemia
Increased circulating antibody level ORPHA:3392
Leishmaniasis
Increased circulating antibody level ORPHA:507
Brucellosis
Increased circulating IgM level, Epididymitis, Orchitis, Increased circulating IgG level ORPHA:1304
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level OMIM:313900
Lymphoproliferative Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level OMIM:613011
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased specific antibody response to vaccination, Decreased circulating IgA level, Decreased c... OMIM:614700
Ataxia-Telangiectasia
Decreased circulating IgA level, Decreased circulating IgG level, Hypoplasia of the thymus, Defec... OMIM:208900
Atypical Werner Syndrome
Telangiectasia of the skin, Aortic valve calcification, Aortic valve stenosis, Mitral valve prola... ORPHA:79474
Pyoderma Gangrenosum
Increased circulating antibody level ORPHA:48104
African Trypanosomiasis
Arrhythmia, Myocarditis, Third degree atrioventricular block, Second degree atrioventricular bloc... ORPHA:3385
Crimean-Congo Hemorrhagic Fever
Orchitis, Increased circulating IgG level, Epididymitis, Increased circulating IgM level, Parotitis ORPHA:99827
Parkes Weber Syndrome
Abnormal bleeding, Bounding pulse, High-output congestive heart failure, Subarachnoid hemorrhage ORPHA:90307
Say-Barber-Miller Syndrome
Transient hypogammaglobulinemia of infancy, Decreased circulating IgG level, Impaired neutrophil ... ORPHA:3132
Cystic Echinococcosis
Ovarian cyst, Increased circulating antibody level, Abnormality of the testis size ORPHA:400
Singleton-Merten Syndrome 1
Aortic valve calcification, Aortic valve stenosis, Mitral valve calcification, Subvalvular aortic... OMIM:182250
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgA level, Decreased circulating IgG level, Decreased specific pneumococcal... ORPHA:183675
Liver Failure, Infantile, Transient
Decreased circulating IgG level OMIM:613070
Bloom Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:210900
Leopard Syndrome 1
Hypoplasia of the ovary, Micropenis, Hypospadias, Cryptorchidism, Aplasia of the ovary OMIM:151100
Mgat2-Cdg
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Hypop... ORPHA:79329
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Increased circulating IgA level, Abnormal ... OMIM:600903
X-Linked Lymphoproliferative Disease
Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgA level... ORPHA:2442
Prolidase Deficiency
Increased circulating antibody level OMIM:170100
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:612301
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level, Hypogonadism OMIM:601675
Congenital Disorder Of Glycosylation, Type Ia
Hypergonadotropic hypogonadism, Decreased circulating IgA level, Decreased circulating IgG level OMIM:212065
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased lymphocyte proliferation in response to mitogen, Decreased circulating IgG level, Decre... ORPHA:508533
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Decreased circulating IgG level OMIM:301078
Poems Syndrome
Increased circulating prolactin concentration, Increased circulating antibody level, Hypogonadism ORPHA:2905
Limb-Mammary Syndrome
Absent nipple, Bilateral breast hypoplasia, Hypoplastic nipples, Breast aplasia, Aplasia of the u... ORPHA:69085
Pneumocystosis
Increased circulating antibody level ORPHA:723
Lymphoproliferative Syndrome, X-Linked, 2
Decreased circulating antibody level OMIM:300635
Carney Complex
Hypertension, Cardiac myxoma, Bruising susceptibility, Congestive heart failure ORPHA:1359
Dubowitz Syndrome
Hypospadias, Decreased circulating IgA level, Decreased circulating IgG level, Cryptorchidism OMIM:223370
Bloom Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... ORPHA:125
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:620005
Encephalitis Lethargica
Increased circulating antibody level ORPHA:83600
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating antibody level, Increased circulating IgG level ORPHA:91500
Riddle Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM ORPHA:420741
Ebola Hemorrhagic Fever
Increased circulating antibody level ORPHA:319218
Al Amyloidosis
Increased circulating antibody level, Abnormal salivary gland morphology ORPHA:85443
Viss Syndrome
Decreased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level OMIM:619472
Congenital Analbuminemia
Increased circulating antibody level ORPHA:86816
Japanese Encephalitis
Increased circulating antibody level, Increased circulating IgM level ORPHA:79139
Gaucher Disease Type 1