Gene Summary

Name:
adenylate cyclase 9
Synonyms:
D16Wsu65e,  ACtp10

IMPC Data Collections

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
preweaning lethality, incomplete penetrance Adcy9tm1b(EUCOMM)Wtsi HOM   Early adult 0.00
increased circulating insulin level Adcy9tm1b(EUCOMM)Wtsi HET Early adult 1.07×10-33
decreased circulating chloride level Adcy9tm1b(EUCOMM)Wtsi HET   Early adult 9.83×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

Anti-nuclear antibody assay

Images

6 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

DSS Histology

Images

6 Images

Eye Morphology

Images Slit Lamp

1 Images

Ear epidermis immunophenotyping

Images

12 Images

Legacy Phenotype Associated Images

View all 115 images

Human diseases caused by Adcy9 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Adcy9 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609968
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperin... OMIM:610021
Cardiac Conduction Defect
Syncope, Arrhythmia OMIM:115080
Atrial Fibrillation, Familial, 18
Palpitations, Bradycardia, Paroxysmal atrial fibrillation, Permanent atrial fibrillation OMIM:617280
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:602485
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Sinoatrial Node Dysfunction And Deafness
Bradycardia OMIM:614896
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Syncope, Ventricular tachycardia OMIM:611938
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Asymptomatic hyperammonemia OMIM:606762
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Arrhythmia ORPHA:3193
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Recurrent hypoglycemia, Fasting hyperinsulinemia, Hyperinsuline... ORPHA:263458
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Cardiomyopathy, Familial Hypertrophic, 11
Hypertrophic cardiomyopathy, Arrhythmia OMIM:612098
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Long Qt Syndrome 15
Ventricular fibrillation, Cardiac arrest, Prolonged QT interval, Bradycardia, Prolonged QTc interval OMIM:616249
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Sudden cardiac death, Arrhythmia OMIM:212500
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617182
His Bundle Tachycardia
Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia ORPHA:3283
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Hyperinsulinism Due To Glucokinase Deficiency
Recurrent hypoglycemia, Fasting hyperinsulinemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Familial Short Qt Syndrome
Ventricular fibrillation, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syncope, At... ORPHA:51083
Atrial Septal Defect 6
Bradycardia, Atrial fibrillation OMIM:613087
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:256450
Short Qt Syndrome 2
Ventricular fibrillation, Bradycardia, Sudden cardiac death, Atrial fibrillation, Syncope, Shorte... OMIM:609621
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Sudden cardiac death, Atrial fibrillation, Prolonged QT interval, Syncope OMIM:600919
Progressive Familial Heart Block, Type Ii
Sinus bradycardia, Complete heart block with narrow QRS complexes, Sudden cardiac death, Atrioven... OMIM:140400
Progressive Familial Heart Block, Type Ib
Shortened PR interval, Arrhythmia, Left anterior fascicular block, Right bundle branch block, Syn... OMIM:604559
Intellectual Developmental Disorder With Cardiac Arrhythmia
Bradycardia, Arrhythmia, Sick sinus syndrome OMIM:617173
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... OMIM:147630
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Sinus bradycardia, Atrial flutter, Cardiac arrest, Premature ventricular ... OMIM:616117
Long Qt Syndrome 8
Sinus bradycardia, Ventricular fibrillation, Sudden cardiac death, Syncope, Prolonged QTc interva... OMIM:618447
Long Qt Syndrome 16
Bradycardia, Second degree atrioventricular block, T-wave alternans, Prolonged QTc interval OMIM:618782
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Mitral regurgitation, Pulmonic stenosis, Sick sinus syndrome, Atrial fibrillation... OMIM:616201
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Decr... OMIM:606843
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Decreased circulating IgG level OMIM:247630
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Bradycardia, Atrial fibrillation, Arrhythmia OMIM:614302
Sick Sinus Syndrome 4
Abnormal QT interval, Sinus bradycardia, Paroxysmal atrial fibrillation, Chronotropic incompetenc... OMIM:619464
Immunodeficiency 24
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Decreased specifi... OMIM:615897
Sick Sinus Syndrome 1
Sinus bradycardia, Sick sinus syndrome, Absent P wave, Prolonged QT interval, Atrioventricular bl... OMIM:608567
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Sudden cardiac death, Ventricular tachycardia ORPHA:3286
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Long Qt Syndrome 14
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, T-wave alternans, Prolonged QT inter... OMIM:616247
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia OMIM:614495
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular tachycardia, T-wave inversion, Ventricular arrhythmia, Prolonged QRS complex, Syncope... OMIM:611528
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Brugada Syndrome
ST segment elevation, Ventricular fibrillation, Cardiac arrest, Paroxysmal ventricular tachycardi... ORPHA:130
Hyperinsulinism-Hyperammonemia Syndrome
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Asymptomatic hype... ORPHA:35878
Bartter Syndrome, Type 5, Antenatal, Transient
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level OMIM:300971
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Second degree atrioventricular block, Sinus bradycardia, Atrial flutter, ... OMIM:115200
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoglycemic seizures, Neonatal hypoglycemia, Nonketotic hypoglycemia, Hypoketotic hypoglycemia, ... ORPHA:293964
Atrial Standstill
Atrial standstill, Ventricular tachycardia, Arrhythmia, Congestive heart failure, Reduced ejectio... ORPHA:1344
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia, Paroxysmal ventricular tachyca... OMIM:614021
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Sudden cardiac death, Ventricular arrhythmia, Syncope, Palpitations, Right ventricular cardiomyop... OMIM:610476
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Dilated cardiomyopathy, Paroxysmal atrial fibrillation, Reduced systolic funct... OMIM:604772
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Syncope, Cardiac arrest, Ventricular tachycardia OMIM:614916
Cardiomyopathy, Familial Hypertrophic, 6
Ventricular preexcitation, Sinus bradycardia, Wolff-Parkinson-White syndrome, Hypertrophic cardio... OMIM:600858
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Cardiac arrest, Congestive heart failure, Pulmonary embolism, Pro... OMIM:613485
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fasting hypoglycemia, Increased circulating T4 level, Decreased circulating free T3, Abnormal cir... ORPHA:171706
Diarrhea 1, Secretory Chloride, Congenital
Hypokalemia, Hyponatremia, Hypochloremia, Hyperactive renin-angiotensin system, Hyperaldosteronism OMIM:214700
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Ventricular tachycardia, Premature ventricular contraction, Congestive heart failure, Sudden card... OMIM:604400
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level OMIM:242870
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Arrhythmia, Abnormal atrioventricular conduction, Abnormal electrophysiol... ORPHA:168796
Paroxysmal Extreme Pain Disorder
Bradycardia, Tachycardia OMIM:167400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Sudden Cardiac Failure, Infantile
Bradycardia, Hypertrophic cardiomyopathy, Myocarditis, Congestive heart failure OMIM:617222
Brugada Syndrome 1
Ventricular fibrillation, Cardiac arrest, Atrial flutter, Sudden cardiac death, Right bundle bran... OMIM:601144
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Nonketotic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Insulin... ORPHA:411593
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia OMIM:614492
Pseudohypoaldosteronism, Type Iie
Hyperkalemia, Pseudohypoaldosteronism, Hyperchloremia OMIM:614496
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Ventricular tachycardia, Premature ventricular contraction, Sudden cardiac death, Palpitations, R... OMIM:610193
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Premature atrial contractions, Atr... OMIM:611493
Incessant Infant Ventricular Tachycardia
Cardiac arrest, Ventricular tachycardia, Histiocytoid cardiomyopathy, Congestive heart failure, W... ORPHA:45453
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Hyperinsulinism Due To Hnf1A Deficiency
Ketotic hypoglycemia, Decreased circulating free fatty acid level, Increased C-peptide level, Exc... ORPHA:324575
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Cardiomyopathy, Familial Hypertrophic, 12
Cardiomyopathy, Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia OMIM:612124
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Brugada Syndrome 9
Palpitations, ST segment elevation, Presyncope OMIM:616399
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Hypertrophic cardiomyopathy, Restric... OMIM:601419
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Ventricular tachycardia, Congestive heart fail... OMIM:604145
Cardiomyopathy, Dilated, 1E
Atrial standstill, Dilated cardiomyopathy, Reduced systolic function, Atrial flutter, Premature v... OMIM:601154
Wolff-Parkinson-White Syndrome
Ventricular preexcitation, Paroxysmal atrial fibrillation, Atrial flutter, Shortened PR interval,... OMIM:194200
Ventricular Tachycardia, Familial
Right bundle branch block, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Ventricular fibrillation, Ventricular tachycardia, Premature ventricular contraction, Congestive ... OMIM:607450
Romano-Ward Syndrome
Sinus bradycardia, Abnormal T-wave, Torsade de pointes, Sudden cardiac death, Ventricular arrhyth... ORPHA:101016
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia ORPHA:71529
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Prolonged... OMIM:615441
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular arrhythmia, Congestive hea... OMIM:600884
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Long Qt Syndrome 3
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:603830
Long Qt Syndrome 2
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613688
Long Qt Syndrome 6
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613693
Long Qt Syndrome 5
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncope OMIM:613695
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Jervell And Lange-Nielsen Syndrome 1
Syncope, Prolonged QT interval, Sudden cardiac death, Torsade de pointes OMIM:220400
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Fasting hypoglycemia, Increased C-peptide level, Excessive insulin respons... ORPHA:276580
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree atrioventr... OMIM:108770
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Decreased circulating free fatty acid level, Fasting hypoglycemia, Increased C-peptide level, Exc... ORPHA:276575
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Syncope, Palpitations, Shor... OMIM:609620
Tako-Tsubo Cardiomyopathy
ST segment elevation, Ventricular fibrillation, Arrhythmia, Bradycardia, T-wave inversion, ST seg... ORPHA:66529
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Long Qt Syndrome 1
Ventricular fibrillation, Torsade de pointes, Sudden cardiac death, Prolonged QT interval, Syncop... OMIM:192500
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hypochloremia, Hyperaldosteronism, Hyperchloriduria OMIM:613090
Myeloma, Multiple
Paraproteinemia OMIM:254500
Congenital Gerbode Defect
Right atrial enlargement, Left-to-right shunt, Pedal edema, Ventricular septal defect, Holosystol... ORPHA:99095
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:605258
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Aorta Coarctation
Perimembranous ventricular septal defect, Tetralogy of Fallot, Cardiomegaly, Patent ductus arteri... ORPHA:1457
Immunodeficiency 25
Increased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:610163
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Sick Sinus Syndrome 2
Sinus bradycardia, Ventricular fibrillation, Cardiac arrest, Aortic regurgitation, Sick sinus syn... OMIM:163800
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Congestive heart failure, Bundle branch block, Syncope, Heart block ORPHA:871
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Reactive hypoglycemia,... ORPHA:276608
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Polymorphic and polytopic ventricular extrasystoles, Ventricular fibrillation, Torsade de pointes... OMIM:115000
Atrial Standstill 2
Atrial standstill, Atrial cardiomyopathy, Bradycardia, Atrial arrhythmia, Absent P wave, Cardiomy... OMIM:615745
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Decreased circulating free fatty acid level, Neonatal hypoglycemia, Increased C-peptide level, Mu... ORPHA:79644
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level OMIM:233650
Coenzyme Q10 Deficiency, Primary, 7
Bradycardia, Hypertrophic cardiomyopathy OMIM:616276
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Premature ventricular contraction, Left bundle branch block, Presyncope,... OMIM:618920
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia OMIM:618406
Long Qt Syndrome 12
Syncope, Ventricular fibrillation, Torsade de pointes, Prolonged QTc interval OMIM:612955
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased circulating IgG level, Defective B cell differentiatio... OMIM:617765
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure OMIM:192600
Short Qt Syndrome 3
Palpitations, Tachycardia, Shortened QT interval OMIM:609622
Cardiomyopathy, Dilated, 1Y
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:611878
Venous Malformations, Multiple Cutaneous And Mucosal
Venous malformation, Intestinal bleeding OMIM:600195
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:619707
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Atrial fibrillation, J wave, Syncope, Shortened QT ... OMIM:611875
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
High palate, Low-set ears, Conductive hearing impairment, Pulmonic stenosis, Posteriorly rotated ... OMIM:617877
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Arrhythmia, Abnormal left ventricular function, Congestive heart failure,... OMIM:615373
Estrogen Resistance
Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia OMIM:615363
Cardiac Septal Defects With Coarctation Of The Aorta
Perimembranous ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta OMIM:212090
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hypochloremia, Hyperaldosteronism, Hyperchloriduria OMIM:602522
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Insulin-resistant diabetes mellitus... ORPHA:280356
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Elevated circulating alanine aminotransferase concentration, Left superior vena cava draining dir... OMIM:613759
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Hyperinsulinemic hypoglycemia OMIM:616033
Familial Partial Lipodystrophy, Köbberling Type
Diabetes mellitus, Insulin resistance, Hyperinsulinemia ORPHA:79084
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Dilated cardiomyopathy, Ventricular arrhythmia OMIM:615916
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Hyperinsulinemia ORPHA:329249
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Chronic decreased circulating total IgG, Reduced isohemagglutini... OMIM:613493
Hyperinsulinism Due To Ucp2 Deficiency
Decreased circulating free fatty acid level, Increased C-peptide level, Excessive insulin respons... ORPHA:276556
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Interstitial cardiac fibrosis, Left ventricular noncompaction, Ventricula... OMIM:613426
Obesity Due To Prohormone Convertase I Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Central adrenal insufficiency, ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Gonadotropin deficiency, Hypoglycemic seizures, Hyperinsulinemia, Central adrenal insufficiency, ... ORPHA:71526
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Abnormal aortic valve cusp morphology, Third degree atrioventricular block, Dextrocar... ORPHA:216694
Congenital Heart Defects, Multiple Types, 3
Right bundle branch block, Atrial fibrillation, Atrioventricular block, Tachycardia, Atrioventric... OMIM:614954
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Increased circulating progesterone, Hypogona... ORPHA:90794
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Bradycardia, Dilated cardiomyopathy, Hypertrophic cardiomyopathy OMIM:618815
Mungan Syndrome
Megaduodenum, Abnormality of the autonomic nervous system, Barrett esophagus, Pulmonic stenosis, ... OMIM:611376
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Patent ductus arteriosus, Congestive heart failure, Peripheral arter... ORPHA:90308
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:613502
Immunodeficiency 72 With Autoinflammation
Increased circulating IgG level, Increased circulating IgE level OMIM:618982
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Hypergon... ORPHA:66628
Cardiomyopathy, Familial Hypertrophic, 10
Ventricular fibrillation, Ventricular tachycardia, T-wave inversion, Hypertrophic cardiomyopathy,... OMIM:608758
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Hyperinsulinemia, Hyperuricemia, Insulin-resistant diabetes mellitus, Hypertr... OMIM:604367
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Bradycardia, Congestive heart failure OMIM:619048
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Cirrhosis, Familial
Increased circulating antibody level OMIM:118900
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... OMIM:613838
Heart Defects, Congenital, And Other Congenital Anomalies
Ventricular septal defect, Interrupted aortic arch, Patent foramen ovale, Patent ductus arteriosu... OMIM:600001
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, Atrial flutter, Systolic heart murmur, Congestive heart failure, Le... ORPHA:99105
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Prolonged PR interval, Arrhythmia, Sick sinus syndrome, Bradycardia, Ventricular escape rhythm ORPHA:542306
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Insulin-resistant di... OMIM:262190
Laubry-Pezzi Syndrome
Perimembranous ventricular septal defect, Aortic regurgitation, Patent ductus arteriosus, Congest... ORPHA:99094
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricu... OMIM:611819
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum estradiol, Insulin-... ORPHA:179494
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Abnormal left ventricular function, Abnormal EKG, Abnormal... ORPHA:45452
Immunodeficiency 64
Decreased circulating IgG level, Increased circulating IgG level, Increased circulating IgM level... OMIM:618534
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Infant Acute Respiratory Distress Syndrome
Bradycardia, Tachycardia, Hypotension, Cardiac arrest ORPHA:70587
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgG level, Increased circulating IgM level OMIM:619220
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, De... OMIM:607271
Mitochondrial Complex I Deficiency, Nuclear Type 36
Recurrent lower respiratory tract infections, Cardiomegaly, Optic disc pallor, Perimembranous ven... OMIM:619170
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
Coenzyme Q10 Deficiency, Primary, 5
Bradycardia OMIM:614654
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level OMIM:618987
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia ORPHA:369873
Bartter Syndrome, Type 1, Antenatal
Hypokalemia, Hypercalcemia, Hypochloremia, Increased circulating renin level, Increased serum pro... OMIM:601678
Brugada Syndrome 2
Prolonged PR interval, Ventricular fibrillation, First degree atrioventricular block, Sudden card... OMIM:611777
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Patent ductus arteriosus, Velopharyngeal insufficiency, Atrial septal defect, Left-to-right shunt... ORPHA:363444
Atrial Fibrillation, Familial, 7
Prolonged PR interval, Paroxysmal atrial fibrillation, Prolonged QTc interval, Palpitations OMIM:612240
Wild Type Attr Amyloidosis
Arrhythmia, Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy, Myocardial infar... ORPHA:330001
Insulinoma
Nonketotic hypoglycemia, Hyperinsulinemia, Recurrent hypoglycemia, Pituitary prolactin cell adeno... ORPHA:97279
Palmoplantar Keratoderma, Epidermolytic
Increased circulating IgE level OMIM:144200
Bdv Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619326
3-Methylglutaconic Aciduria, Type Viii
Bradycardia OMIM:617248
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Premature ventricular contraction, Hypotension, Atrioven... OMIM:212138
Cardiomyopathy, Familial Hypertrophic, 8
Ventricular fibrillation, Cardiac arrest, Congestive heart failure, T-wave inversion, Hypertrophi... OMIM:608751
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating antibody ... ORPHA:859
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Increased circulating IgE level, Decreased circulating IgG level OMIM:618944
Tricuspid Atresia
Patent foramen ovale, Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Hypoplasia o... ORPHA:1209
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Atrial Fibrillation, Familial, 15
Atrial fibrillation, Atrial flutter OMIM:615770
Mody
Glycosuria, Neonatal hypoglycemia, Insulin-resistant diabetes mellitus, Abnormal insulin level, E... ORPHA:552
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Reduced ejection fraction, Arrhythmia, Congestive heart fa... ORPHA:217607
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Atrial flutter, Abnormal left ventricular function, Congestive heart fail... ORPHA:300751
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:612692
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Bradycardia OMIM:614498
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Cardiomyopathy, Ventricular tachycardia OMIM:613873
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Hypothyroidism, Transient neonatal diabetes mellitus, Maternal diabetes, M... ORPHA:99886
Sandestig-Stefanova Syndrome
High palate, Underdeveloped tragus, Low-set ears, Muscular ventricular septal defect, Angulated a... OMIM:618804
Bartter Syndrome Type 4
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level, Hyperactive renin-an... ORPHA:89938
Illum Syndrome
Bradycardia OMIM:208155
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, Decreased circulating IgE, Redu... OMIM:300400
Hyperinsulinism Due To Hnf4A Deficiency
Glycosuria, Neonatal hypoglycemia, Fasting hypoglycemia, Hyperinsulinemia, Hypophosphatemic ricke... ORPHA:263455
Idiopathic Congenital Hypothyroidism
Bradycardia ORPHA:95717
Bartter Syndrome, Type 2, Antenatal
Hypokalemia, Increased serum prostaglandin E2, Hypochloremia, Increased circulating renin level, ... OMIM:241200
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Exocrine pancreatic insufficiency, Tetralogy of Fallot, Aortic regurgitation, Atrioventricular ca... ORPHA:508498
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Increased circulating IgM level, Increased circulating IgA level... OMIM:601859
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Sinus bradycardia, Syncope, Atrioventricular block OMIM:616812
Sinus Node Disease And Myopia
Abnormal electrophysiology of sinoatrial node origin, Sick sinus syndrome OMIM:182190
Retinitis Pigmentosa
Type II diabetes mellitus, Hypogonadism, Hyperinsulinemia ORPHA:791
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Abnormality of blood circulation, Ventricular septal defect, Hy... ORPHA:860
Congenital Heart Defects, Multiple Types, 4
Tetralogy of Fallot, Coarctation of aorta, Hypoplastic left heart, Ventricular septal defect, Atr... OMIM:615779
Glycogen Storage Disease Of Heart, Lethal Congenital
Shortened PR interval, Congestive heart failure, Hypotension, Cardiomyopathy, Bradycardia OMIM:261740
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia ORPHA:66518
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Sudden cardiac death, Ventricular arrhythmia, Syncope, Palpitations, Right ventricular cardiomyop... OMIM:609040
Atrial Tachyarrhythmia With Short Pr Interval
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Shortened PR interval, Paroxysmal ... OMIM:108950
Ventricular Septal Defect 2
Perimembranous ventricular septal defect OMIM:614431
Fadd-Related Immunodeficiency
Hepatic fibrosis, Decreased liver function, Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Variegate Porphyria
Tachycardia OMIM:176200
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level OMIM:247800
Insulin-Resistance Syndrome Type B
Glycosuria, Diabetic ketoacidosis, Fasting hypoglycemia, Insulin resistance, Hyperinsulinemia, Ab... ORPHA:2298
Immunodeficiency 89 And Autoimmunity
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgE level OMIM:619632
Bangstad Syndrome
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Abnormality of the parathyroid g... ORPHA:1227
Scimitar Syndrome
Pulmonary artery hypoplasia, Tricuspid atresia, Left-to-right shunt, Dextrocardia, Double outlet ... ORPHA:185
Timothy Syndrome
Bradycardia, Prolonged QT interval OMIM:601005
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Syncope, Tachycardia, Premature ventricular contraction OMIM:192445
Galactokinase Deficiency
Hypergalactosemia, Hypoglycemia, Hyperinsulinemia, Hypercholesterolemia, Increased level of galac... ORPHA:79237
Glutamine Deficiency, Congenital
Bradycardia, Neonatal death OMIM:610015
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
Protruding tongue, Low-set ears, Sensorineural hearing impairment, Gastroesophageal reflux, Micro... OMIM:301040
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Bradycardia, Cardiomyopathy, Arrhythmia OMIM:609286
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level OMIM:314000
Aapoaiv Amyloidosis
Sinus bradycardia, Atrial flutter, Hypertrophic cardiomyopathy, Supravalvular aortic stenosis, Le... ORPHA:439232
Short Stature, Dauber-Argente Type
Fasting hyperinsulinemia OMIM:619489
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level OMIM:312863
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Bradycardia, Atrioventricular block OMIM:614407
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Type II diabetes mellitus, Hypergonadotropic hypogonadism, Hyperinsulinemia ORPHA:3085
Immunodeficiency 14A, Autosomal Dominant
Decreased circulating IgG2 level, Decreased specific pneumococcal antibody level, Increased circu... OMIM:615513
Hydroxykynureninuria
Tachycardia, Hypotension OMIM:236800
Halperin-Birk Syndrome
High palate, Gastroesophageal reflux, Perimembranous ventricular septal defect, Umbilical hernia,... OMIM:618651
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Hydrops fetalis, Polyhydramnios, Ventricular septal defect, ... ORPHA:3405
Jervell And Lange-Nielsen Syndrome
Ventricular fibrillation, Torsade de pointes, Arrhythmia, Syncope, Prolonged QTc interval ORPHA:90647
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Brugada Syndrome 7
ST segment elevation, Atrial flutter OMIM:613120
Tetanus
Bradycardia, Tachycardia, Hypertension ORPHA:3299
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Insulin resistance, Hypertriglyceridemia ORPHA:363400
Congenital Heart Defects, Multiple Types, 2
Tetralogy of Fallot, Myxomatous mitral valve degeneration, Aortic regurgitation, Subvalvular aort... OMIM:614980
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Increased circulating IgE level OMIM:615767
Gjc2-Related Late-Onset Primary Lymphedema
Hypoplasia of lymphatic vessels, Predominantly lower limb lymphedema, Abnormal lymphatic vessel m... ORPHA:568051
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, Ventricul... OMIM:126320
Brugada Syndrome 4
Syncope, Atrial fibrillation, Shortened QT interval OMIM:611876
Heterotaxy, Visceral, 4, Autosomal
Complete atrioventricular canal defect, Total anomalous pulmonary venous return, Ectopia of the s... OMIM:613751
Secondary Short Bowel Syndrome
Small intestinal dysmotility, Cholestasis, Aganglionic megacolon, Abnormality of the small intest... ORPHA:95427
Kimura Disease
Increased circulating IgE level ORPHA:482
Ectodermal Dysplasia And Immunodeficiency 1
Reduced natural killer cell activity, Increased circulating IgM level, Dysgammaglobulinemia, Incr... OMIM:300291
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM OMIM:300861
Transaldolase Deficiency
Hepatosplenomegaly, Patent foramen ovale, Patent ductus arteriosus, Low-set ears, Atrial septal d... OMIM:606003
Perlman Syndrome
Hyperinsulinemia ORPHA:2849
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level OMIM:193670
Multiple Endocrine Neoplasia Type 4
Pituitary corticotropic cell adenoma, Pulmonary carcinoid tumor, Thymoma, Neuroendocrine neoplasm... ORPHA:276152
Immunodeficiency 70
Decreased circulating total IgM, Decreased circulating total IgG, Decreased circulating total IgA... OMIM:618969
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomalous pulmonary venous ret... OMIM:613854
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating antibody level OMIM:618495
Congenital Generalized Lipodystrophy
Increased C-peptide level, Precocious puberty in females, Insulin resistance, Hyperinsulinemia, H... ORPHA:528
Juvenile Polyposis Syndrome
Neoplasm of the gastrointestinal tract, Gastrointestinal hemorrhage, Colon cancer, Cerebral arter... ORPHA:2929
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Hyperinsulinemia, Absence of pubertal development, Gl... ORPHA:785
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Increased C-peptide level, Neonatal hypoglycemia, Decreased plasma carniti... ORPHA:71212
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating IgG level, Increased circulating IgA level, Increased circulating antibody ... ORPHA:169154
Immunodeficiency 27A
Increased circulating IgG level, Increased circulating IgM level OMIM:209950
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Kaposi Sarcoma
Abnormality of the liver, Abnormality of the gastrointestinal tract, Venous insufficiency, Lymphe... ORPHA:33276
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Hematochezia, Gastrointestinal carcinoma, Cerebral arteriovenous malformation, Aortic dissection,... OMIM:175050
Fixed Subaortic Stenosis
Pulmonary venous hypertension, Ventricular septal defect, Atrioventricular canal defect, Mitral r... ORPHA:3092
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgA level, Reduced natural killer cell act... OMIM:619281
Familial Multiple Nevi Flammei
Abnormal cranial nerve morphology, Arrhythmia, Pulmonary embolism, Venous insufficiency, Arteriov... ORPHA:624
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dysplastic tricuspid valve, Hypoplastic left heart, Ventricular septal defect, Atrioventricular c... OMIM:265380
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Bradycardia ORPHA:226313
Congenital Disorder Of Glycosylation, Type Ib
Hyperinsulinemic hypoglycemia, Hypoalbuminemia OMIM:602579
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Increased circulating IgG level, Increased circulating IgE level OMIM:243700
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Coronary Arterial Fistula
Continuous heart murmur, Elevated jugular venous pressure, Systolic heart murmur, Arrhythmia, Abn... ORPHA:2041
Familial Thyroid Dyshormonogenesis
Bradycardia ORPHA:95716
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Recurrent pneumonia, Bruising susceptibility, Congestive heart failure, Abnormal venous morpholog... ORPHA:1900
Ebstein Anomaly
Ventricular preexcitation, Atrial standstill, Sudden cardiac death, Right bundle branch block, At... OMIM:224700
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgG level OMIM:611926
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM... OMIM:607594
Mandibuloacral Dysplasia
Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Insulin-resistant diabetes mellitus, ... ORPHA:2457
Mpi-Cdg
Hypothyroidism, Hyperinsulinemic hypoglycemia, Hypoalbuminemia ORPHA:79319
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Decreased circulating IgA level, Partial absence of specific ant... OMIM:240500
Right Atrial Isomerism
Right atrial isomerism, Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomal... OMIM:208530
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Abnormal T-wave, Sinus tachycardia... ORPHA:563
Lymphatic Malformation 7
Facial edema, Atrial septal defect, Nonimmune hydrops fetalis, Lymphedema, Edema, Varicose veins,... OMIM:617300
Igg4-Related Aortitis
Increased circulating antibody level, Increased circulating IgG4 level, Complement deficiency, In... ORPHA:449400
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Bradycardia OMIM:619272
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Tachycardia OMIM:614653
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Reduced delayed hypersensitivity, Increased circul... OMIM:617241
Acitretin/Etretinate Embryopathy
Bradycardia, Third degree atrioventricular block ORPHA:40366
Heterotaxy, Visceral, 1, X-Linked
Bilateral trilobed lungs, Total anomalous pulmonary venous return, Dextrocardia, Double outlet ri... OMIM:306955
Necrotizing Enterocolitis
Bradycardia, Shock, Hypotension ORPHA:391673
Lymphatic Malformation 6
Chylothorax, Intestinal lymphangiectasia, Cupped ear, Facial edema, Atrial septal defect, Nonimmu... OMIM:616843
Glossopharyngeal Neuralgia
Syncope, Bradycardia, Jaw claudication ORPHA:221098
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Increased circulating IgM level, Increased circulating IgA level... OMIM:603909
Capillary Malformation-Arteriovenous Malformation
Chylothorax, Arteriovenous fistula, High-output congestive heart failure, Congestive heart failur... ORPHA:137667
Cardiac Diverticulum
Pulmonary artery hypoplasia, Premature ventricular contraction, Tricuspid atresia, Dextrocardia, ... ORPHA:1686
Donohue Syndrome
Fasting hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Precocious puberty, Po... OMIM:246200
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
High palate, Patent ductus arteriosus, Thoracic aortic aneurysm, Left superior vena cava draining... OMIM:619657
Lipodystrophy, Congenital Generalized, Type 4
Bradycardia, Prolonged QT interval, Atrial fibrillation, Tachycardia OMIM:613327
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Bradycardia, Paroxysmal supraventricular tachycardia OMIM:601375
Truncus Arteriosus
Pulmonary artery hypoplasia, Single coronary artery origin, Abnormal superior vena cava morpholog... ORPHA:3384
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Bradycardia, Persistent fetal circulation, Hypertrophic cardiomyopathy OMIM:618775
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Increased circulating IgG level, Abnormal immunoglobulin level, ... ORPHA:276
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Alstrom Syndrome
Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Hypergonadotropic hypogonadism, Hyperuricem... OMIM:203800
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Hypoplastic left heart, Ventricular septal defect, Anomalous origin of left ... ORPHA:99050
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level ORPHA:206594
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Hypoglycemia, Decreased circulating follicle stimulating hormone c... ORPHA:453533
Absence Of The Pulmonary Artery
Atrial fibrillation, Pedal edema, Cardiomegaly, Pulmonary edema, Recurrent pneumonia, Patent fora... ORPHA:980
Immunodeficiency, Common Variable, 6
Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r... OMIM:613496
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
X-Linked Acrogigantism
Diabetes insipidus, Increased serum insulin-like growth factor 1, Hypopituitarism, Decreased thyr... ORPHA:300373
Mandibuloacral Dysplasia With Type B Lipodystrophy
Hyperlipidemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Glucose intolerance, Hyper... OMIM:608612
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Tetralogy of Fallot, Patent ductus arteriosus, Atrial septal defect, Intestin... ORPHA:210122
Parkes Weber Syndrome
Arteriovenous fistula, High-output congestive heart failure, Vascular tortuosity, Peripheral arte... ORPHA:90307
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Congenital Tracheal Stenosis
Abnormal stomach morphology, Morphological abnormality of the gastrointestinal tract, Preductal c... ORPHA:141127
Ventricular Septal Defect 3
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonary artery stenosis OMIM:614432
Proteus Syndrome
Venous malformation, Splenomegaly OMIM:176920
Von Willebrand Disease
Venous insufficiency, Abnormal mitral valve morphology ORPHA:903
Angioosteohypotrophic Syndrome
Telangiectasia of the skin, Venous malformation, Edema, Prominent superficial veins ORPHA:75508
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level OMIM:212050
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Abnormal tricuspid valve mo... OMIM:616749
Methimazole Embryofetopathy
Tracheoesophageal fistula, Coarctation of aorta, Esophageal atresia, Polyhydramnios, Ventricular ... ORPHA:1923
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Atrial flutter, Patent ductus arteriosus, Atrial septal defect, Hydrops fetalis... OMIM:601927
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Atrial fibrillation, Cardiomegaly, Holosystolic murmur, Arrhythmia, Com... ORPHA:1677
Boutonneuse Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:83313
Structural Heart Defects And Renal Anomalies Syndrome
Tetralogy of Fallot, Systolic heart murmur, Tricuspid atresia, Low-set ears, Atrial septal defect... OMIM:617478
Telangiectasia, Hereditary Hemorrhagic, Type 1
Right-to-left shunt, Gastrointestinal hemorrhage, Cerebral arteriovenous malformation, Nail bed t... OMIM:187300
Lymphoproliferative Syndrome, X-Linked, 1
Decreased circulating IgG level, Reduced natural killer cell activity, Increased circulating IgM ... OMIM:308240
Hardikar Syndrome
Hepatic failure, Cholestasis, Cholangitis, Bile duct proliferation, Pigmentary retinopathy, Hyper... OMIM:301068
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Systolic heart murmur, Abnormal left ventricular function, Congestive heart failu... ORPHA:99103
Milroy Disease
Abnormal venous morphology, Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Varicos... ORPHA:79452
Mandibuloacral Dysplasia With Type A Lipodystrophy
Hyperlipidemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus, Calcinosis, Hyperglycemia,... OMIM:248370
Telangiectasia, Hereditary Hemorrhagic, Type 4
Venous varicosities of celiac and mesenteric vessels, High-output congestive heart failure, Cereb... OMIM:610655
Double Outlet Right Ventricle
Tetralogy of Fallot, Abnormality of cartilage of external ear, Intestinal malrotation, Double out... ORPHA:3426
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Palpitations, Tachycardia OMIM:613239
Immunodeficiency 60 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgA level, Decreased circulating IgE, Decr... OMIM:618394
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level ORPHA:2643
Angiostrongyliasis
Increased circulating IgA level, Increased circulating specific IgE antibody, Increased circulati... ORPHA:74
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level OMIM:615285
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Immunodeficiency With Hyper-Igm, Type 1
Decreased T cell activation, Decreased circulating IgG level, Decreased circulating IgE, Increase... OMIM:308230
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypokalemia, Increased C-peptide level, Hypothyroidism, Fasting hypoglycem... ORPHA:769
Meacham Syndrome
Tetralogy of Fallot, Stillbirth, Patent ductus arteriosus, Accessory spleen, Atrial septal defect... OMIM:608978
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Dextrocardia, Double outlet right ventricle, Hypoplastic left hear... OMIM:619702
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Bradycardia OMIM:617397
Dopamine Beta-Hydroxylase Deficiency
Hypoglycemia, Insulin resistance, Elevated circulating creatinine concentration, Hyperinsulinemia... ORPHA:230
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Increased circulating antibody level OMIM:178610
Combined Oxidative Phosphorylation Defect Type 39
Bradycardia ORPHA:565624
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Episodic hypertension, Cerebral hemorrhage, Tachycardia, Positive regit... OMIM:171420
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Double outlet right ventricle, Hypoplastic left heart, ... OMIM:617205
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Palpitations, Tachycardia OMIM:188580
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Venous insufficiency, Pulmonary embolism, Purpura ORPHA:745
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Acquired Generalized Lipodystrophy
Insulin resistance, Hyperinsulinemia, Abnormal circulating lipid concentration, Insulin-resistant... ORPHA:79086
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Venous insufficiency, Pulmonary embolism, Purpura, Subcutaneous hemorrhage ORPHA:743
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Increased circulating IgG level OMIM:617388
Meige Disease
Laryngeal edema, Peripheral edema, Pleural effusion, Predominantly lower limb lymphedema, Lymphed... ORPHA:90186
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Low-set ears, Pancreatic hypoplasia, Hepatomegaly, Biliary hyperplasia, Pyloric s... ORPHA:83617
Alpha-Heavy Chain Disease
Splenomegaly, Abnormality of the small intestine, Hepatomegaly, Malabsorption, Ascites ORPHA:100025
Immunodeficiency 67
Increased circulating IgE level OMIM:607676
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Prolonged PR interval, Tetralogy of Fallot, Subvalvular aortic stenosis, Atrial fibrillation, Pul... OMIM:108900
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Decreased circulating total IgM OMIM:251190
Neuroleptic Malignant Syndrome
Arrhythmia, Pulmonary embolism, Hypotension, Hypertensive crisis, Hypertension, Bradycardia, Tach... ORPHA:94093
Telangiectasia, Hereditary Hemorrhagic, Type 2
Cerebral arteriovenous malformation, Nail bed telangiectasia, Hepatic arteriovenous malformation,... OMIM:600376
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Hypercholesterolemia, Insulin-resistant diabetes mellitus, Hypertriglyceridemia... OMIM:151660
Immunodeficiency 43
Decreased circulating IgG level OMIM:241600
Acquired Methemoglobinemia
Syncope, Tachycardia, Arrhythmia, Palpitations ORPHA:464453
Sepsis In Premature Infants
Bradycardia, Tachycardia, Hypotension ORPHA:90051
Lymphangiectasia, Intestinal
Decreased circulating IgG level OMIM:152800
Simple Cryoglobulinemia
Monoclonal elevation of IgG, Monoclonal immunoglobulin M proteinemia, Paraproteinemia, Increased ... ORPHA:91139
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Decreased circulating total IgM, Agammaglobulinemia OMIM:619705
Lymphedema-Distichiasis Syndrome
Tetralogy of Fallot, Arrhythmia, Patent ductus arteriosus, Predominantly lower limb lymphedema, L... OMIM:153400
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level OMIM:202700
Crimean-Congo Hemorrhagic Fever
Subconjunctival hemorrhage, Hemoperitoneum, Diffuse alveolar hemorrhage, Abnormal left ventricula... ORPHA:99827
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Elevated jugular venous pressure, Systolic heart murm... ORPHA:1329
Lujo Hemorrhagic Fever
Subconjunctival hemorrhage, Hypotension, Myocarditis, Bradycardia, Shock ORPHA:319213
Aortic Arch Interruption
Right bundle branch block, Double outlet right ventricle, Single ventricle, Hypertension, Ventric... ORPHA:2299
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure ORPHA:90037
Encephalitis Lethargica
Bradycardia ORPHA:83600
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating antibody level OMIM:618048
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM... OMIM:619752
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating IgE, Decr... OMIM:619510
Mu-Heavy Chain Disease
Increased circulating antibody level ORPHA:100024
Meacham Syndrome
Tetralogy of Fallot, Aplasia/Hypoplasia of the lungs, Patent ductus arteriosus, Conotruncal defec... ORPHA:3097
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Abnormal aortic arch morphology, Patent ductus arteriosus, Hypoplastic left... ORPHA:1455
Hypothyroidism Due To Tsh Receptor Mutations
Bradycardia ORPHA:90673
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Loeys-Dietz Syndrome 6
High palate, Abdominal aortic aneurysm, Thoracic aortic aneurysm, Carotid artery dissection, Caro... OMIM:619656
Peeling Skin Syndrome 1
Increased circulating IgE level OMIM:270300
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgA level, Increased circulating IgG level OMIM:615934
Heterotaxy, Visceral, 5, Autosomal
Bilateral trilobed lungs, Total anomalous pulmonary venous return, Dextrocardia, Double outlet ri... OMIM:270100
Woodhouse-Sakati Syndrome
Hypothyroidism, Hyperlipidemia, Hyperinsulinemia, Delayed puberty, Decreased serum testosterone c... ORPHA:3464
Paragangliomas 3
Palpitations, Hypertension associated with pheochromocytoma, Tachycardia OMIM:605373
Neutropenia, Severe Congenital, 4, Autosomal Recessive
High palate, Patent ductus arteriosus, Atrial septal defect, Splenomegaly, Hepatomegaly, Pulmonic... OMIM:612541
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased circulating IgG level, Decreased circulating tota... ORPHA:169160
Immunodeficiency 23
Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgM level OMIM:615816
Enlarged Parietal Foramina