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Gene: Npas2 MGI:109232

Gene Summary

Name:

neuronal PAS domain protein 2

Synonyms:

MOP4, bHLHe9

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
decreased lymphocyte cell number	Npas2^em1(IMPC)Mbp	HOM	Early adult	2.71×10^-05
enlarged lymph nodes	Npas2^em1(IMPC)Mbp	HOM	Early adult	0.00
preweaning lethality, incomplete penetrance	Npas2^em1(IMPC)Mbp	HOM	Early adult	0.00
increased neutrophil cell number	Npas2^em1(IMPC)Mbp	HOM	Early adult	2.94×10^-06
abnormal skin morphology	Npas2^em1(IMPC)Mbp	HOM	Early adult	0.00
small heart	Npas2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal heart morphology	Npas2^em1(IMPC)Mbp	HOM	Early adult	0.00
absent optic nerve	Npas2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal lymph node morphology	Npas2^em1(IMPC)Mbp	HOM	Early adult	0.00

Download data as: TSV XLS

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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.

X-ray

XRay Images Whole Body Dorso Ventral

45 Images

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X-ray

XRay Images Whole Body Lateral Orientation

19 Images

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Human diseases caused by Npas2 mutations

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

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

Human diseases associated with Npas2 (0 diseases)
Human diseases predicted to be associated with Npas2 (702 diseases)

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

The table below shows human diseases predicted to be associated to Npas2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Pheochromocytoma/Paraganglioma Syndrome 6	Elevated circulating catecholamine level, Hypertension, Paraganglioma	OMIM:618464
Sinoatrial Node Dysfunction And Deafness	Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia	OMIM:614896
Cardiac Conduction Defect	Arrhythmia, Syncope	OMIM:115080
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio...	OMIM:617280
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia	OMIM:611938
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p...	ORPHA:3282
Supravalvular Aortic Stenosis	Arrhythmia, Supravalvular aortic stenosis	ORPHA:3193
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Arrhythmia, Sudden cardiac death	OMIM:212500
His Bundle Tachycardia	Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia	ORPHA:3283
Hepatic Venoocclusive Disease With Immunodeficiency	Endocardial fibrosis, Absence of lymph node germinal center	OMIM:235550
Familial Short Qt Syndrome	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope...	ORPHA:51083
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Long Qt Syndrome 9	Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a...	OMIM:611818
Long Qt Syndrome 5	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven...	OMIM:613695
Progressive Familial Heart Block, Type Ib	Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ...	OMIM:604559
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia	ORPHA:60026
Short Qt Syndrome 2	Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul...	OMIM:609621
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat...	OMIM:616117
Progressive Familial Heart Block, Type Ii	Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin...	OMIM:140400
Long Qt Syndrome 16	Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia	OMIM:618782
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope	OMIM:600919
Atrial Standstill	Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa...	ORPHA:1344
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ...	OMIM:616201
Hyperthyroidism, Familial Gestational	Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ...	OMIM:603373
Long Qt Syndrome 8	Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int...	OMIM:618447
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Cardiomyopathy, Familial Restrictive, 3	Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation...	OMIM:612422
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Obesity Due To Sim1 Deficiency	Postural hypotension with compensatory tachycardia, Hyperinsulinemia, Hypotension	ORPHA:369873
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad...	OMIM:612240
Cardiomyopathy, Familial Hypertrophic, 6	Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail...	OMIM:600858
Sick Sinus Syndrome 4	Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation...	OMIM:619464
Sick Sinus Syndrome 1	Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br...	OMIM:608567
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Brugada Syndrome	Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment...	ORPHA:130
Optic Nerve Hypoplasia, Bilateral	Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo...	OMIM:165550
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C...	OMIM:115200
Pheochromocytoma/Paraganglioma Syndrome 3	Tachycardia, Extraadrenal pheochromocytoma, Glomus jugular tumor, Adrenal pheochromocytoma, Chemo...	OMIM:605373
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyop...	OMIM:617222
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyperaldosteronism, Increased circulating renin level, Hypotension	OMIM:620125
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric...	OMIM:614021
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,...	OMIM:604772
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Atrial Fibrillation, Familial, 10	Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill...	OMIM:614022
Late-Onset Familial Hypoaldosteronism	Orthostatic hypotension, Abnormal circulating corticosterone level, Increased circulating renin l...	ORPHA:556037
Catecholaminergic Polymorphic Ventricular Tachycardia	Syncope, Ventricular tachycardia, Sudden cardiac death	ORPHA:3286
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Myopathy, Myofibrillar, 1	Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa...	OMIM:601419
Corticosteroid-Binding Globulin Deficiency	Hypertension, Decreased circulating cortisol level, Hypotension	OMIM:611489
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
Incessant Infant Ventricular Tachycardia	Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge...	ORPHA:45453
Post-Traumatic Pituitary Deficiency	Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c...	ORPHA:95619
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm...	ORPHA:168796
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c...	OMIM:120200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f...	OMIM:604400
Orthostatic Hypotensive Disorder, Streeten Type	Orthostatic hypotension, Syncope	OMIM:143850
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Lymphopenia	OMIM:615615
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q...	OMIM:613980
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Anemia, Lymphadenopathy	OMIM:312500
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Early-Onset Familial Hypoaldosteronism	Orthostatic hypotension, Abnormal circulating corticosterone level, Increased circulating renin l...	ORPHA:556030
Congenital Tricuspid Stenosis	Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,...	ORPHA:95459
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli...	OMIM:619126
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,...	OMIM:614916
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Tachycardia, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, ...	OMIM:168000
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia	OMIM:609909
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617182
Romano-Ward Syndrome	Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ...	ORPHA:101016
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Ventricular Fibrillation, Paroxysmal Familial, 1	Tachycardia, Syncope, Ventricular fibrillation	OMIM:603829
Brugada Syndrome 1	Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso...	OMIM:601144
Cardiomyopathy, Dilated, 1E	Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio...	OMIM:601154
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Infant Acute Respiratory Distress Syndrome	Tachycardia, Bradycardia, Cardiac arrest, Hypotension	ORPHA:70587
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Neuroendocrine Tumor Of The Colon	Tricuspid regurgitation, Right ventricular failure, Melena, Palpitations, Hypotension, Facial tel...	ORPHA:100080
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr...	ORPHA:91354
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An...	ORPHA:66529
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hyperaldosteronism, Increased circ...	OMIM:177735
Atrial Fibrillation, Familial, 15	Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death	OMIM:615770
Cardiomyopathy, Dilated, 1G	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A...	OMIM:604145
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hyperaldosteronism, Hypotension	OMIM:264350
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr...	OMIM:612124
Long Qt Syndrome 2	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613688
Idiopathic Congenital Hypothyroidism	Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iodine upta...	ORPHA:95717
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphad...	ORPHA:444463
Erythrocytosis, Familial, 2	Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage, Elevated circulating erythropo...	OMIM:263400
Long Qt Syndrome 6	Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong...	OMIM:613693
Pure Autonomic Failure	Orthostatic hypotension, Syncope, Abnormality of circulating catecholamine level	ORPHA:441
Wolff-Parkinson-White Syndrome	Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com...	OMIM:194200
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Atrial Fibrillation, Familial, 4	Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,...	OMIM:611493
Congenital Isolated Acth Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropin deficient adrenal i...	ORPHA:199296
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Atrioventricular bl...	ORPHA:60041
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ...	OMIM:212050
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Corticosterone Methyloxidase Type I Deficiency	Decreased circulating aldosterone level, Increased circulating renin level, Hypotension	OMIM:203400
Bronchial Neuroendocrine Tumor	Tricuspid regurgitation, Elevated circulating growth hormone concentration, Right ventricular fai...	ORPHA:97287
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio...	OMIM:611528
Carnitine-Acylcarnitine Translocase Deficiency	Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio...	OMIM:212138
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp...	OMIM:619846
Idiopathic Neonatal Atrial Flutter	Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Abnormal left ventricular ...	ORPHA:45452
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Neuroendocrine Tumor Of The Rectum	Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Hypotensi...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Hypotensi...	ORPHA:100082
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent...	OMIM:615441
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Hypotension	OMIM:145600
Perry Syndrome	Hypotension	ORPHA:178509
Immunodeficiency 104	Splenomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death	OMIM:192605
Snakebite Envenomation	Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral ischemia, Hypote...	ORPHA:449285
Atrial Standstill 2	Atrial cardiomyopathy, Absent P wave, Atrial standstill, Cardiomyopathy, Bradycardia, Palpitation...	OMIM:615745
Familial Thyroid Dyshormonogenesis	Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El...	ORPHA:95716
Cardiomyopathy, Familial Hypertrophic, 16	Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy...	OMIM:613838
Coenzyme Q10 Deficiency, Primary, 7	Hypertrophic cardiomyopathy, Bradycardia	OMIM:616276
Familial Progressive Cardiac Conduction Defect	Bundle branch block, Heart block, Congestive heart failure, Syncope, Arrhythmia	ORPHA:871
Immunodeficiency 24	Lymphopenia, Decreased proportion of memory B cells, Decreased CD4:CD8 ratio, Reduced proportion ...	OMIM:615897
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Long Qt Syndrome 3	Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ...	OMIM:603830
Mitochondrial Complex I Deficiency, Nuclear Type 13	Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest	OMIM:618235
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Bradycardia	OMIM:620265
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy...	OMIM:619897
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia	OMIM:618815
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
Analbuminemia	Hypotension	OMIM:616000
Kimura Disease	Eosinophilia, Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Trimethylaminuria	Hypertension, Tachycardia	OMIM:602079
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Bradycardia	OMIM:616277
Long Qt Syndrome 1	Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,...	OMIM:192500
Hyperaldosteronism, Familial, Type Iv	Hypertension, Hyperaldosteronism	OMIM:617027
Adult Acute Respiratory Distress Syndrome	Shock, Diabetic ketoacidosis, Vasculitis, Hypotension	ORPHA:70578
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,...	OMIM:618920
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia	ORPHA:1479
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc...	OMIM:613251
Cardiomyopathy, Dilated, 2F	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:619747
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia	ORPHA:542306
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy	ORPHA:157991
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac...	OMIM:607450
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Congestive heart failure, Bradycardia	OMIM:619048
Neuroendocrine Tumor Of Stomach	Tricuspid regurgitation, Right ventricular failure, Hematemesis, Increased circulating ACTH level...	ORPHA:100075
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Wild Type Attr Amyloidosis	Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop...	ORPHA:330001
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync...	OMIM:609620
Brugada Syndrome 9	Prolonged QT interval, ST segment elevation, Palpitations, Presyncope	OMIM:616399
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Follicular hyperplasia, Splenomegaly...	OMIM:614470
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i...	OMIM:619220
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:618261
Nipah Virus Disease	Hypotension	ORPHA:99825
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu...	OMIM:115000
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Microphthalmia	OMIM:206900
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri...	OMIM:610193
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Bradyc...	ORPHA:226313
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Atrioventricular block, Right bundle branch block, Atrioventric...	OMIM:614954
Hydroxykynureninuria	Tachycardia, Hypotension	ORPHA:79155
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Diabetes mellitus, Abnormality of the thyroid gland, Cardiomyopathy, Hypogonadism, Bradycardia, A...	OMIM:609286
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ...	OMIM:613239
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert...	OMIM:608758
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Memory impairment, Dementia, Narcolepsy	OMIM:604121
Hemophagocytic Lymphohistiocytosis, Familial, 4	Splenomegaly, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia	OMIM:603552
Timothy Syndrome	Prolonged QT interval, Ventricular tachycardia, Atrioventricular block, Bradycardia, Pulmonary ar...	OMIM:601005
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I...	OMIM:150550
Cln3 Disease	T-wave inversion, Bradycardia, Increased circulating androgen concentration	ORPHA:228346
Long Qt Syndrome 14	Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT...	OMIM:616247
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618987
Aapoaiv Amyloidosis	Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes mellitus, Ca...	ORPHA:439232
Congenital Toxoplasmosis	Abnormality of retinal pigmentation, Cardiomegaly, Thrombocytopenia, Lymphadenopathy, Microphthal...	ORPHA:858
Familial Hypoaldosteronism	Orthostatic hypotension, Hypovolemia, Increased circulating renin level, Adrenal insufficiency, H...	ORPHA:427
Long Qt Syndrome 12	Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes	OMIM:612955
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy	OMIM:618982
Immunodeficiency 50	Lymphopenia, Neutropenia	OMIM:300988
Brugada Syndrome 3	Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar...	OMIM:611875
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:66661
Lipoyltransferase 1 Deficiency	Pulmonary arterial hypertension, Bradycardia	OMIM:616299
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lymph node hypopl...	OMIM:602450
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen...	ORPHA:90791
Cardiomyopathy, Familial Hypertrophic, 11	Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi...	OMIM:612098
Narcolepsy 3	Narcolepsy	OMIM:609039
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension...	ORPHA:542323
Cardiomyopathy, Dilated, 1Ii	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,...	OMIM:615184
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:91349
Short Qt Syndrome 3	Shortened QT interval, Tachycardia, Palpitations	OMIM:609622
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Short Qt Syndrome 7	Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation	OMIM:620231
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Small intestine carcinoid, Pal...	ORPHA:100078
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Hypothyroidism Due To Tsh Receptor Mutations	Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod...	ORPHA:90673
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve...	OMIM:609040
Autoinflammation With Episodic Fever And Lymphadenopathy	Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia, Absence of lymph node germinal center	OMIM:606843
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Bradycardia	OMIM:619814
Cutaneous Mastocytoma	Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans	ORPHA:79455
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ...	ORPHA:277
Mercury Poisoning	Hypertension, Tachycardia, Hypotension	ORPHA:330021
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,...	ORPHA:361
Aa Amyloidosis	Hypothyroidism, Hypotension, Adrenal insufficiency	ORPHA:85445
Inhalational Anthrax	Internal hemorrhage, Hypotension	ORPHA:247257
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short...	OMIM:261740
Narcolepsy 1	Narcolepsy	OMIM:161400
Coenzyme Q10 Deficiency, Primary, 5	Bradycardia	OMIM:614654
Mu-Heavy Chain Disease	Splenomegaly, Abnormal B cell count, Anemia, Lymphadenopathy	ORPHA:100024
Cardiomyopathy, Dilated, 1Nn	Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D...	OMIM:615916
Brugada Syndrome 8	Right bundle branch block, ST segment elevation, Ventricular tachycardia	OMIM:613123
Systemic Capillary Leak Syndrome	Myocarditis, Pericarditis, Arrhythmia, Hypotension	ORPHA:188
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Ge...	OMIM:615559
Staphylococcal Necrotizing Pneumonia	Shock, Diabetes mellitus, Hypotension, Increased circulating procalcitonin concentration	ORPHA:36238
Illum Syndrome	Bradycardia	OMIM:208155
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death, Eosinophilia, Neutropenia	OMIM:257100
Renal Tubular Dysgenesis	Hypotension	OMIM:267430
Infant Botulism	Hypertension, Cardiac arrest, Hypotension	ORPHA:178478
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade...	ORPHA:169154
Immunodeficiency 32A	Lymphadenitis, Granuloma, Lymphadenopathy	OMIM:614893
Cinca Syndrome	Papilledema, Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia	OMIM:607115
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Tachycardia, Hyperinsulinemia, Syncope, Type I diabetes mellitus, Palpitations, Hyperinsulinemic ...	ORPHA:276575
Hyperaldosteronism, Familial, Type Ii	Hypertension, Hyperaldosteronism	OMIM:605635
Tetanus	Hypertension, Tachycardia, Bradycardia	ORPHA:3299
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia	OMIM:613101
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Tachycardia, Maternal diabetes, Hyperinsulinemia, Syncope, Type I diabetes mellitus, Palpitations...	ORPHA:276580
Pituitary Apoplexy	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci...	ORPHA:95613
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ...	OMIM:209950
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Bradycardia, Atrioventricular block	OMIM:614407
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot...	OMIM:620300
Dengue Fever	Gastrointestinal hemorrhage, Cerebral hemorrhage, Epistaxis, Hypotension	ORPHA:99828
Brugada Syndrome 6	ST segment elevation, Ventricular fibrillation, Cardiac arrest	OMIM:613119
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, Follicular hype...	OMIM:601859
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial effusion, Spl...	OMIM:613011
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Bradycardia	OMIM:614702
Burkitt Lymphoma	Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Abnormal lymph no...	ORPHA:543
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis...	ORPHA:91347
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia	ORPHA:264200
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leukemia, Abnormal ...	ORPHA:3226
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ...	OMIM:618986
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Abnormal pulmonary valve morphology, Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasi...	ORPHA:137634
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:605115
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Melena, Mi...	ORPHA:99147
Carnitine-Acylcarnitine Translocase Deficiency	Cardiomyopathy, Arrhythmia, Ventricular tachycardia, Hypotension	ORPHA:159
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Sheehan Syndrome	Orthostatic hypotension, Decreased circulating cortisol level, Reduced circulating prolactin conc...	ORPHA:91355
Narcolepsy 7	Narcolepsy	OMIM:614250
Relapsing Fever	Tachycardia, Epistaxis, Hypotension	ORPHA:91547
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Orthostatic hypotension, Decreased circulating cortisol level, Pituitary aden...	ORPHA:199299
Necrotizing Enterocolitis	Shock, Bradycardia, Hypotension	ORPHA:391673
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, Follicular hype...	OMIM:603909
Prolactinoma	Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra...	ORPHA:2965
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morphology, Hepatos...	OMIM:612840
Ventricular Fibrillation, Paroxysmal Familial, 2	Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction	OMIM:612956
Corticosterone Methyloxidase Type Ii Deficiency	Orthostatic hypotension, Increased circulating corticosterone level, Increased circulating 18-hyd...	OMIM:610600
Neuroendocrine Neoplasm Of Appendix	Tricuspid stenosis, Heart murmur, Adrenocorticotropic hormone excess, Palpitations, Increased ser...	ORPHA:100079
Immunodeficiency, Common Variable, 1	Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class...	OMIM:607594
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Abnormality of the lymphatic system, Abnormal lymph n...	ORPHA:54251
Chromosome 5Q12 Deletion Syndrome	Hypotension	OMIM:615668
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of naive T cells, Lymph node hypoplasia, Abnormally low T cell receptor exci...	ORPHA:276
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block	OMIM:615616
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Optic nerve hypoplasia, Bone marrow hypocellularity, Neutropenia, Atri...	OMIM:609053
Acute Adrenal Insufficiency	Orthostatic hypotension, Decreased circulating cortisol level, Myocardial infarction, Adrenal hyp...	ORPHA:95409
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells	OMIM:620282
Immunodeficiency 7	Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neutropenia	OMIM:615387
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Syncope, Premature ventricular contraction	OMIM:192445
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:86893
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen...	OMIM:619313
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenomegaly, Decreas...	OMIM:619375
Cardiomyopathy, Familial Hypertrophic, 17	Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Palpitations, Hypertrophic cardiom...	OMIM:613873
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of inadequate pro...	ORPHA:75564
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center	OMIM:608184
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Hyperthyroidism, Palpitations, Goiter	OMIM:188580
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Hyperinsulinism Due To Ucp2 Deficiency	Tachycardia, Syncope, Palpitations, Hyperinsulinemic hypoglycemia, Excessive insulin response to ...	ORPHA:276556
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Peripartum Cardiomyopathy	Tachycardia, Diabetes mellitus, Abnormality of thyroid physiology, Right ventricular failure, Car...	ORPHA:563
Hyperinsulinism Due To Hnf1A Deficiency	Tachycardia, Maternal diabetes, Maturity-onset diabetes of the young, Hyperinsulinemia, Syncope, ...	ORPHA:324575
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone marrow hypoce...	OMIM:301078
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Pde4D Haploinsufficiency Syndrome	Elevated circulating parathyroid hormone level, Hypotension	ORPHA:439822
Indolent Systemic Mastocytosis	Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytosis, Abnormal m...	ORPHA:98848
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Gitelman Syndrome	Prolonged QT interval, Ventricular tachycardia, Increased circulating renin level, Palpitations, ...	OMIM:263800
Serotonin Syndrome	Hypertension, Tachycardia, Hypotension	ORPHA:43116
Alpha-Heavy Chain Disease	Splenomegaly, Anemia, Lymphadenopathy	ORPHA:100025
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac...	ORPHA:216694
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Bradycardia	OMIM:614498
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Second degree atrioventricular block, Syncope, Palpitations, Sinus bradycardia	OMIM:616812
Scrub Typhus	Myocarditis, Hypotension	ORPHA:83317
Lymphangiectasia, Intestinal	Lymphopenia, Intestinal lymphangiectasia, Stillbirth	OMIM:152800
Glutamine Deficiency, Congenital	Bradycardia	OMIM:610015
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia	ORPHA:276608
Congenital Left Ventricular Aneurysm	Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave	ORPHA:1055
Bartter Syndrome, Type 3	Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating renin level, Hypo...	OMIM:607364
Acitretin/Etretinate Embryopathy	Third degree atrioventricular block, Hypoplasia of the thymus, Bradycardia	ORPHA:40366
Microphthalmia, Isolated 8	Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob...	OMIM:615113
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Lymphocytosis, Hemophagocytosis, Ne...	OMIM:308240
Immunodeficiency 21	Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re...	OMIM:614172
Meningococcal Meningitis	Shock, Hypotension	ORPHA:33475
Tularemia	Brain abscess, Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal ...	ORPHA:3392
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis	OMIM:247800
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Schnitzler Syndrome	Splenomegaly, Leukocytosis, Anemia, Lymphadenopathy	ORPHA:37748
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Pheochromocyto...	OMIM:171420
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1, Decreased res...	ORPHA:293978
Roifman Syndrome	Noncompaction cardiomyopathy, Ventricular septal defect, Retinal dystrophy, Eosinophilia, Splenom...	OMIM:616651
Whipple Disease	Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Myocarditis, Hypotension, Hypot...	ORPHA:3452
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Pituitary hypothyroidism, Bradycardia, Decreased cir...	ORPHA:90674
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Legionnaires Disease	Myocarditis, Pericarditis, Arrhythmia, Hypotension	ORPHA:549
Colchicine Poisoning	Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arrhythmia	ORPHA:31824
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, ...	OMIM:618935
Lipodystrophy, Congenital Generalized, Type 4	Prolonged QT interval, Tachycardia, Atrial fibrillation, Hyperinsulinemia, Bradycardia	OMIM:613327
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadeno...	ORPHA:2686
Griscelli Syndrome Type 2	Pancytopenia, Splenomegaly, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hypotension	ORPHA:79456
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Le...	ORPHA:507
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Splenomegaly, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:618495
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Elevated circula...	ORPHA:289548
Laryngeal Neuroendocrine Tumor	Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy	ORPHA:100083
Aggressive Systemic Mastocytosis	Hypotension, Gastrointestinal hemorrhage, Portal hypertension	ORPHA:98850
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola...	ORPHA:90068
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Elevated circulating luteinizing hormon...	ORPHA:168558
Hypothyroidism, Congenital, Nongoitrous, 2	Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo...	OMIM:218700
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Optic Atrophy 11	Optic nerve hypoplasia, Splenomegaly, Optic atrophy, Facial diplegia, Cherry red spot of the macu...	OMIM:617302
Craniotelencephalic Dysplasia	Microphthalmia, Optic nerve hypoplasia	OMIM:218670
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperte...	ORPHA:31826
Addison Disease	Hypoparathyroidism, Orthostatic hypotension, Decreased circulating cortisol level, Adrenal calcif...	ORPHA:85138
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Mental deterioration, Memory impairment, Narcolepsy	ORPHA:314404
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Splenomegaly, Lymphopenia, Ventricular septal defect, Leukopenia	OMIM:620210
Classic Mycosis Fungoides	Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Non-Acquired Panhypopituitarism	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant...	ORPHA:90695
Roifman Syndrome	Noncompaction cardiomyopathy, Retinal dystrophy, Eosinophilia, Lymphadenopathy, Hepatosplenomegaly	ORPHA:353298
Immunodeficiency 10	Hypoplasia of the iris, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Mitochondrial Complex I Deficiency, Nuclear Type 37	Pulmonary arterial hypertension, Bradycardia	OMIM:619272
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo...	ORPHA:226307
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho...	OMIM:108950
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Shock, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Precocious puberty in...	ORPHA:90794
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne...	OMIM:613179
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Hypertrophic cardiomyopathy, Peripheral axonal neuropathy, Optic atrophy, Optic nerve hypoplasia	ORPHA:496790
Hyperthyroidism, Nonautoimmune	Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ...	OMIM:609152
Immunodeficiency 54	Splenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:609981
Activated Pi3K-Delta Syndrome	Splenomegaly, Recurrent tonsillitis, B lymphocytopenia, Lymphadenopathy	ORPHA:397596
Joubert Syndrome 40	Optic nerve hypoplasia	OMIM:619582
Acute Radiation Syndrome	Hypotension, Telangiectasia	ORPHA:454831
Hemochromatosis, Type 3	Cardiomyopathy, Lymphopenia, Anemia, Neutropenia	OMIM:604250
Cinca Syndrome	Abnormality of neutrophils, Splenomegaly, Retrobulbar optic neuritis, Leukocytosis, Lymphadenopat...	ORPHA:1451
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia	OMIM:126320
Lymphoproliferative Syndrome 2	Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Hemophagocytosis	OMIM:615122
Congenital Enterovirus Infection	Myocarditis, Cardiomyopathy, Hypotension	ORPHA:292
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Lymphopenia, Eosinophilia	ORPHA:2582
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas...	OMIM:603554
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Sepsis In Premature Infants	Tachycardia, Bradycardia, Hypotension	ORPHA:90051
Neuroleptic Malignant Syndrome	Tachycardia, Pulmonary embolism, Hypertension, Bradycardia, Hypotension, Arrhythmia, Hypertensive...	ORPHA:94093
Glossopharyngeal Neuralgia	Syncope, Jaw claudication, Bradycardia	ORPHA:221098
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Bradycardia	OMIM:608800
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Microphthalmia, Retinal detachment, Optic nerve hypoplasia	OMIM:615181
Cholera	Hypovolemic shock, Tachycardia, Hypotension	ORPHA:173
Immunodeficiency, Common Variable, 2	Splenomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
Pseudo-Torch Syndrome 2	Bradycardia, Cerebral hemorrhage	OMIM:617397
Alexander Disease	Diabetes mellitus, Sudden cardiac death, Precocious puberty, Hypertension, Hypotension, Hypothyro...	ORPHA:58
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burst, Monocytopen...	OMIM:226990
Chromosome 19P13.13 Deletion Syndrome	Optic atrophy, Optic nerve hypoplasia	OMIM:613638
Systemic Lupus Erythematosus 17	Autoimmune thrombocytopenia, Leukopenia, Optic neuritis, Lymphopenia, Thrombocytopenia	OMIM:301080
Cardiofaciocutaneous Syndrome 4	Ventricular septal hypertrophy, Abnormal aortic valve morphology, Optic nerve hypoplasia, Pulmoni...	OMIM:615280
X-Linked Intellectual Disability, Najm Type	Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma	ORPHA:163937
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Abnormal dense granules, Decreased nerve conduction ve...	OMIM:214500
Polymicrogyria With Optic Nerve Hypoplasia	Optic nerve hypoplasia	ORPHA:250972
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Hennekam-Beemer Syndrome	Arrhythmia, Telangiectasia of the skin, Hypotension	ORPHA:2135
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut...	OMIM:618849
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Thrombocytopenia, Lymphad...	ORPHA:824
Immunodeficiency 13	Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ...	OMIM:615518
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Hypertrophic cardiomyopathy, Bradycardia	OMIM:618775
Felty Syndrome	Pericarditis, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Bone marrow hypocellularity, Neutr...	ORPHA:47612
Middle Ear Neuroendocrine Tumor	Facial palsy, Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy, Carcinoid tumor	ORPHA:100084
Orthostatic Hypotension 2	Orthostatic hypotension	OMIM:618182
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Fragile X-Associated Tremor/Ataxia Syndrome	Hypertension, Hypothyroidism, Hypotension	ORPHA:93256
Autosomal Dominant Hypocalcemia	Congestive heart failure, Arrhythmia, Hypotension	ORPHA:428
Adult-Onset Still Disease	Pericarditis, Generalized lymphadenopathy, Neutrophilia, Myocarditis, Splenomegaly, Leukocytosis,...	ORPHA:829
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Coronary Arterial Fistula	Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect...	ORPHA:2041
Pfapa Syndrome	Splenomegaly, Lymphadenopathy	ORPHA:42642
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Optic nerve hypoplasia, Optic atrophy, Cardiomyopathy, Microphthalmia	ORPHA:370959
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel...	OMIM:618048
Immunodeficiency 36 With Lymphoproliferation	Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Decreased proportion of naive CD8 T c...	OMIM:616005
Lujo Hemorrhagic Fever	Shock, Myocarditis, Subconjunctival hemorrhage, Bradycardia, Hypotension	ORPHA:319213
Bacterial Toxic-Shock Syndrome	Shock, Tachycardia, Myocarditis, Capillary leak, Hypotension	ORPHA:36234
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Hemoperitoneum, Bra...	ORPHA:99827
Bresek Syndrome	Neonatal death, Microphthalmia, Aganglionic megacolon, Optic nerve hypoplasia	ORPHA:85284
Noonan Syndrome 12	Lymphopenia, Tetralogy of Fallot, Ventricular septal defect, Thrombocytopenia	OMIM:618624
Congenital Myopathy 22A, Classic	Tricuspid regurgitation, Bradycardia	OMIM:620351
Diamond-Blackfan Anemia 4	Macrocytic anemia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Atrial septal defect	OMIM:612527
Beta-Ketothiolase Deficiency	Hypertension, Hypotension	ORPHA:134
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Lymphadenopathy, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia	OMIM:619644
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Ventricular septal defect, Optic nerve hypoplasia, Leukopenia, Pulmonic stenosis, Double outlet r...	OMIM:301056
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia	OMIM:614653
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Pericarditis, Lymphadenopathy	ORPHA:85414
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
D-Glyceric Aciduria	Bradycardia	OMIM:220120
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Lymphade...	ORPHA:331206
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-positive hemolytic ...	OMIM:614034
Gitelman Syndrome	Prolonged QT interval, Maternal diabetes, Hashimoto thyroiditis, Raynaud phenomenon, Delayed pube...	ORPHA:358
Poliomyelitis	Hypertension, Hypovolemic shock, Hypotension	ORPHA:2912
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Lymphad...	ORPHA:100026
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Septooptic Dysplasia	Optic disc hypoplasia, Optic nerve hypoplasia	OMIM:182230
Niemann-Pick Disease, Type A	Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue histiocytosis,...	OMIM:257200
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Hypertension, Hypotension	OMIM:174000
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Hypertension...	ORPHA:340
Cognitive Impairment With Or Without Cerebellar Ataxia	Optic nerve hypoplasia	OMIM:614306
Griscelli Syndrome	Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leukopenia, Bone marrow hypocellularit...	ORPHA:381
Systemic Mastocytosis With Associated Hematologic Neoplasm	Tachycardia, Syncope, Hypotension	ORPHA:98849
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Optic nerve hypoplasia	OMIM:618890
Omenn Syndrome	Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia	ORPHA:39041
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia	OMIM:610768
Macrophage Activation Syndrome	Splenomegaly, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cel...	ORPHA:158061
Aniridia-Intellectual Disability Syndrome	Aniridia, Optic nerve hypoplasia	ORPHA:1068
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Lymphadenopathy, Anemia, Coombs-positive hemolytic ane...	OMIM:304790
Tatton-Brown-Rahman Syndrome	Atrial septal defect, Ventricular septal defect, Optic nerve hypoplasia	OMIM:615879
Craniotelencephalic Dysplasia	Microphthalmia, Septo-optic dysplasia, Optic atrophy	ORPHA:1528
Combined Oxidative Phosphorylation Defect Type 39	Bradycardia	ORPHA:565624
American Trypanosomiasis	Aganglionic megacolon, Myocarditis, Splenomegaly, Lymphadenopathy, Cardiomyopathy	ORPHA:3386
Verheij Syndrome	Truncus arteriosus, Ventricular septal defect, Optic nerve hypoplasia	OMIM:615583
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypotension	OMIM:608643
Optic Atrophy-Intellectual Disability Syndrome	Optic atrophy, Optic disc hypoplasia, Optic nerve hypoplasia	ORPHA:401777
Boutonneuse Fever	Leukopenia, Cervical lymphadenopathy, Thrombocytopenia, Lymphadenopathy	ORPHA:83313
3-Hydroxy-3-Methylglutaric Aciduria	Dilated cardiomyopathy, Cardiac arrest, Hypotension	ORPHA:20
Pheochromocytoma/Paraganglioma Syndrome 4	Paraganglioma of head and neck, Tachycardia, Extraadrenal pheochromocytoma, Adrenal pheochromocyt...	OMIM:115310
5Q14.3 Microdeletion Syndrome	Optic nerve hypoplasia	ORPHA:228384
Von Hippel-Lindau Disease	Pancreatic islet cell adenoma, Myocardial infarction, Myocarditis, Pancreatic endocrine tumor, Ad...	ORPHA:892
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy	OMIM:617827
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem...	ORPHA:514
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p...	OMIM:600802
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Lymphopenia	OMIM:616100
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Lymphopenia	OMIM:207731
Rhabdoid Tumor	Thrombocytopenia, Anemia, Lymphadenopathy	ORPHA:69077
Cold Agglutinin Disease	Splenomegaly, Hemolytic anemia, Lymphadenopathy	ORPHA:56425
Fish-Eye Disease	Splenomegaly, Lymphadenopathy	ORPHA:79292
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Optic nerve hypoplasia	ORPHA:65288
Hyper-Igd Syndrome	Optic disc pallor, Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepa...	OMIM:260920
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Thrombocy...	OMIM:617780
Agammaglobulinemia, X-Linked	Cor pulmonale, Lymph node hypoplasia, T lymphocytopenia, B lymphocytopenia, Neutropenia, Anemia	OMIM:300755
Sneddon Syndrome	Lymphopenia, Bicuspid aortic valve, Facial palsy	OMIM:182410
Hellp Syndrome	Cerebral hemorrhage, Internal hemorrhage, Hypotension	ORPHA:244242
Cerebral Visual Impairment	Optic disc pallor, Optic nerve hypoplasia, Optic atrophy, Retinopathy of prematurity, Increased c...	ORPHA:447788
Combined Pituitary Hormone Deficiencies, Genetic Forms	Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant...	ORPHA:95494
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy	OMIM:617099
Squalene Synthase Deficiency	Bicuspid aortic valve, Optic nerve hypoplasia	OMIM:618156
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne...	ORPHA:436159
Classic Hodgkin Lymphoma	Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:391
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Intellectual Developmental Disorder, Autosomal Dominant 70	Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia	OMIM:620157
Acute Promyelocytic Leukemia	Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Leukopenia, Neutropenia, Anemia	ORPHA:520
Castleman Disease	Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Thrombocytopeni...	ORPHA:160
Sézary Syndrome	Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:3162
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia	OMIM:221400
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Optic nerve hypoplasia, Dilated cardiomyopathy, Increased mean corpusc...	ORPHA:261250
Pheochromocytoma	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Pheochromocyto...	OMIM:171300
Stiff-Person Syndrome	Hypertension, Tachycardia, Diabetes mellitus	OMIM:184850
Hereditary Angioedema Type 1	Hypotension	ORPHA:100050
Encephalitis Lethargica	Bradycardia	ORPHA:83600
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Optic nerve hypoplasia	OMIM:618736
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, ST segment depression, Hypotension, Abnormal T-wave, Abnormal pulse pressu...	ORPHA:466650
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
Myotonic Dystrophy 2	Tachycardia, Premature ventricular contraction, Right bundle branch block, Hypogonadism, Elevated...	OMIM:602668
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto...	OMIM:614700
Lissencephaly Due To Tuba1A Mutation	Aganglionic megacolon, Optic nerve hypoplasia	ORPHA:171680
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microphthalmia, Optic nerve hypoplasia	OMIM:614833
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Combined Oxidative Phosphorylation Deficiency 39	Type I diabetes mellitus, Sinus bradycardia	OMIM:618397
Stromme Syndrome	Accessory spleen, Optic nerve hypoplasia, Stillbirth, Retinal vascular tortuosity, Microphthalmia	OMIM:243605
Nabais Sa-De Vries Syndrome, Type 1	Optic nerve hypoplasia	OMIM:618828
Acute Generalized Exanthematous Pustulosis	Neutrophilia, Eosinophilia, Leukocytosis, Lymphadenopathy, Neutropenia	ORPHA:293173
Tangier Disease	Orange discolored tonsils, Peripheral axonal neuropathy, Chronic noninfectious lymphadenopathy, T...	ORPHA:31150
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Bilateral microphthalmos, Optic nerve hypoplasia	OMIM:607597
Phace Association	Ventricular septal defect, Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Increased reti...	OMIM:606519
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Optic nerve hypoplasia	OMIM:618381
Mevalonic Aciduria	Optic disc pallor, Normocytic hypoplastic anemia, Fluctuating splenomegaly, Thrombocytopenia, Leu...	OMIM:610377
Pleural Mesothelioma	Lymphadenopathy	ORPHA:50251
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Abnormal lymphocyte count, Absence of lymph node germinal center, Thrombocytopenia,...	ORPHA:79124
Rhizomelic Chondrodysplasia Punctata, Type 2	Tetralogy of Fallot, Optic nerve hypoplasia	OMIM:222765
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Pancytopenia, Lymphopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision c...	OMIM:619767
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Secundum atrial septal defect, Neutropenia, Lymphopenia, Patent fora...	OMIM:614868
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Eosinophilia, Lymphocytosis, Lymphadenopathy	ORPHA:139402
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,...	ORPHA:486
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Increased T cell count, Absent peripheral lymph nodes in presence of infection, Increased B cell ...	ORPHA:98813
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Splenomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocytopenia	ORPHA:169090
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy	ORPHA:411703
Mixed Connective Tissue Disease	Hemolytic anemia, Pericarditis, Splenomegaly, Mediastinal lymphadenopathy, Myocarditis, Lymphaden...	ORPHA:809
Lysosomal Acid Lipase Deficiency	Adrenal calcification, Primary adrenal insufficiency, Hypovolemia, Hypotension, Pulmonary arteria...	ORPHA:275761
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:619750
Proximal Spinal Muscular Atrophy	Bradycardia	ORPHA:70
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Splenomegaly, Lymphadenitis, Dilated cardiomyopathy, Leukocytosis, Lymphadenopathy, Cardiomyopath...	OMIM:615895
Marburg Hemorrhagic Fever	Shock, Tachycardia, Pericarditis, Hypovolemia, Capillary leak, Subconjunctival hemorrhage, Bradyc...	ORPHA:99826
Kikuchi-Fujimoto Disease	Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Myocarditis, Thrombocytopeni...	ORPHA:50918
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Splenomegaly, Leukocytosis, Dilated cardiomyopathy, Optic atrophy, Lymphadenopathy,...	OMIM:615688
Pseudomyxoma Peritonei	Lymphadenopathy	ORPHA:26790
Kaposi Sarcoma	Abnormality of the spleen, Generalized lymphadenopathy, Abnormal retinal morphology	ORPHA:33276
Pediatric Systemic Lupus Erythematosus	Pericardial effusion, Lymphadenopathy, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia...	ORPHA:93552
Trichothiodystrophy 5, Nonphotosensitive	Retinal dystrophy, Optic nerve hypoplasia	OMIM:300953
Desmoplastic Small Round Cell Tumor	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:83469
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Hypertension, Pheochromocytoma, Adrenocortical adenoma,...	ORPHA:139411
Drug-Induced Autoimmune Hemolytic Anemia	Congestive heart failure, Tachycardia	ORPHA:90037
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Optic nerve hypoplasia	ORPHA:363686
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con...	ORPHA:1329
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu...	OMIM:300835
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly	ORPHA:169160
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Nephroblastoma	Aniridia, Lymphadenopathy	ORPHA:654
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Carcinoid tumor, Chronic noninfectious lymphadenopathy	ORPHA:79140
Abnormal Hair, Joint Laxity, And Developmental Delay	Mitral regurgitation, Tricuspid regurgitation, Sinus bradycardia	OMIM:261990
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Abnormality of retinal pigmentation, Pancytopenia, Decreased nerve...	ORPHA:167
Immunodeficiency 85 And Autoimmunity	T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr...	OMIM:619510
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Optic nerve hypoplasia, Abnormal T cell subset distribution, B lymphocytopenia, Decreased proport...	ORPHA:221139
Autoimmune Lymphoproliferative Syndrome	Reticulocytosis, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia...	ORPHA:3261
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomat...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomat...	OMIM:233710
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno...	OMIM:617237
Primary Intestinal Lymphangiectasia	Pericardial effusion, Abnormal lymphatic vessel morphology, Decreased proportion of CD3-positive ...	ORPHA:90362
Hypocomplementemic Urticarial Vasculitis	Pericardial effusion, Splenomegaly, Abnormal heart valve morphology, Lymphadenopathy	ORPHA:36412
Familial Hemophagocytic Lymphohistiocytosis	Splenomegaly, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia	ORPHA:540
Lig4 Syndrome	Leukocytosis, Acute leukemia, Pancytopenia, Lymphadenopathy	ORPHA:99812
White-Sutton Syndrome	Atrial septal defect, Rod-cone dystrophy, Patent foramen ovale, Optic nerve hypoplasia	OMIM:616364
Leptospirosis	Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctival hemorrhage...	ORPHA:509
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Melkersson-Rosenthal Syndrome	Abnormal autonomic nervous system physiology, Facial palsy, Lymphadenopathy	ORPHA:2483
Carcinoid Syndrome	Chronic noninfectious lymphadenopathy, Pulmonary carcinoid tumor, Small intestine carcinoid, Para...	ORPHA:100093
Hemophagocytic Lymphohistiocytosis, Familial, 2	Pancytopenia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hepatosplenomegaly, Leukopenia, He...	OMIM:603553
Fg Syndrome Type 1	Atrial septal defect, Optic nerve hypoplasia, Mitral valve prolapse	ORPHA:93932
Proteasome-Associated Autoinflammatory Syndrome 3	Splenomegaly, Lymphadenopathy, Anemia, Lymphopenia, Thrombocytopenia	OMIM:617591
Pgm3-Cdg	Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat...	ORPHA:443811
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomat...	OMIM:233690
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Absence of lymph node germinal center, Splenomegaly, Enlarged tonsils, Neutrope...	OMIM:308230
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial septal defect, Splenomegaly, Peri...	OMIM:612541
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Optic nerve hypoplasia	ORPHA:572013
Hemophagocytic Lymphohistiocytosis, Familial, 1	Splenomegaly, Thrombocytopenia, Lymphadenopathy, Leukopenia, Hemophagocytosis, Anemia	OMIM:267700
Sting-Associated Vasculopathy, Infantile-Onset	Follicular hyperplasia, Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Lymphopenia, An...	OMIM:615934
Histiocytosis-Lymphadenopathy Plus Syndrome	Ventricular septal defect, Cardiomegaly, Splenomegaly, Cervical lymphadenopathy, Lymphadenopathy,...	OMIM:602782
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Ventricu...	OMIM:243150
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia	OMIM:610125
Vici Syndrome	Lymphopenia, Macular atrophy, Dilated cardiomyopathy, Ocular albinism, Decreased proportion of CD...	OMIM:242840
Spastic Paraplegia 54, Autosomal Recessive	Optic nerve hypoplasia	OMIM:615033
Brachytelephalangic Chondrodysplasia Punctata	Atrial septal defect, Ventricular septal defect, Optic disc hypoplasia, Optic nerve hypoplasia	ORPHA:79345
Q Fever	Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Myocarditis, T...	ORPHA:781
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Noncompaction cardiomyopathy, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia,...	ORPHA:508542
Thymic Neuroendocrine Tumor	Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Neoplasm of the thymus, Med...	ORPHA:97289
Microcephaly 20, Primary, Autosomal Recessive	Microphthalmia, Optic nerve hypoplasia	OMIM:617914
Chromosome 2P16.1-P15 Deletion Syndrome	Optic nerve hypoplasia	OMIM:612513
Poems Syndrome	Papilledema, Pericardial effusion, Lymphadenopathy, Thrombocytosis, Polycythemia	ORPHA:2905
Acute Interstitial Pneumonia	Pericardial effusion, Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Septo-Optic Dysplasia Spectrum	Septo-optic dysplasia, Optic nerve hypoplasia	ORPHA:3157
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Bicuspid aortic valve, Optic nerve hypoplasia, Facial palsy, Truncus arteriosus, Ventricular sept...	ORPHA:508498
Charcot-Marie-Tooth Disease Type 1F	Decreased nerve conduction velocity, Absent brainstem auditory responses, Decreased number of lar...	ORPHA:101085
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Waldenström Macroglobulinemia	Normocytic anemia, Abnormality of neutrophils, Abnormal retinal vascular morphology, Splenomegaly...	ORPHA:33226
2P15P16.1 Microdeletion Syndrome	Optic nerve hypoplasia, Optic atrophy, Facial palsy	ORPHA:261349
Acute Liver Failure	Shock, Gastrointestinal hemorrhage, Intracranial hemorrhage, Adrenal insufficiency, Hypotension	ORPHA:90062
Rabin-Pappas Syndrome	Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia	OMIM:620155
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Optic nerve hypoplasia, Abnormal autonomic nervous system physiology	ORPHA:300570
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Ventricular septal defect, Optic nerve hypoplasia, Hypoplastic left heart,...	OMIM:301043
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Optic disc pallor, Retinal coloboma, Optic nerve hypoplasia	OMIM:300749
Bartter Syndrome, Type 1, Antenatal	Hyperparathyroidism, Low-to-normal blood pressure, Hyperactive renin-angiotensin system, Hyperald...	OMIM:601678
19P13.13 Microdeletion Syndrome	Optic atrophy, Optic nerve hypoplasia	ORPHA:357001
Brucellosis	Pericarditis, Liver abscess, Lung abscess, Abnormality of the peripheral nervous system, Hyperspl...	ORPHA:1304
Yellow Fever	Shock, Supraventricular arrhythmia, Hematemesis, Capillary leak, Reduced left ventricular ejectio...	ORPHA:99829
Medullary Thyroid Carcinoma	Pheochromocytoma, Lymphadenopathy	ORPHA:1332
Pancreatic And Cerebellar Agenesis	Secundum atrial septal defect, Optic nerve hypoplasia, Anemia	OMIM:609069
Phace Syndrome	Optic nerve hypoplasia, Lens coloboma, Abnormal heart morphology, Abnormal cardiac septum morphol...	ORPHA:42775
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo...	OMIM:617718
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Lymphadenitis, Decreas...	ORPHA:331235
Aniridia 1	Hypoplasia of the fovea, Optic nerve hypoplasia, Hypoplasia of the iris, Chorioretinal hypopigmen...	OMIM:106210
Niemann-Pick Disease Type C	Progressive neurologic deterioration, Narcolepsy, Dementia, Cognitive impairment, Mental deterior...	ORPHA:646
Hereditary Amyloidosis With Primary Renal Involvement	Abnormal lymph node morphology, Lymphadenopathy, Anemia, Hepatosplenomegaly	ORPHA:85450
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retinal detachment, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Retinal dysp...	OMIM:614643
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Lymphopenia	ORPHA:1572
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Mediastinal lymphadenopathy, Leukocytosis, Mitral valve prolapse, Hilar lymph node enlargement, R...	OMIM:620233
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative burst, Granulomat...	OMIM:306400
Bohring-Opitz Syndrome	Bradycardia	ORPHA:97297
Plague	Hematemesis, Tachycardia, Arrhythmia, Hypotension	ORPHA:707
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Ventricular septal defect, Optic nerve hypoplasia, Pulmonic stenosis, Atrial septal defect, Paten...	OMIM:617506
Spondyloenchondrodysplasia With Immune Dysregulation	Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Neutropenia, Lymphopenia	OMIM:607944
Cherubism	Macular scar, Marcus Gunn pupil, Optic neuropathy, Submandibular lymph node enlargement	OMIM:118400
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Optic nerve hypoplasia	OMIM:617864
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Squamous Cell Carcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424019
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Lymphadenopathy, T lymphocytopenia,...	ORPHA:83471
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Optic atrophy, Retinal dysplasia, Mi...	OMIM:236670
Whim Syndrome	Lymphadenitis, Tetralogy of Fallot, Abnormal neutrophil morphology, Neutropenia, Lymphopenia	ORPHA:51636
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi...	OMIM:102700
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal myocardium morphology	ORPHA:32960
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormal heart valve morphology, Optic nerve hypoplasia, Optic disc coloboma, Pulmonic stenosis, ...	ORPHA:536471
Bartter Syndrome, Type 2, Antenatal	Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased circulating renin level, Low-...	OMIM:241200
Farber Disease	Thrombocytopenia, Lymphadenopathy, Hepatosplenomegaly, Macular degeneration, Cherry red spot of t...	ORPHA:333
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Bicuspid aortic valve, Optic nerve hypoplasia, Ventricular septal defect, Abnormal heart morpholo...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Bicuspid aortic valve, Optic nerve hypoplasia, Ventricular septal defect, Abnormal heart morpholo...	ORPHA:352665
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary insufficiency, Bradycardia	OMIM:614437
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Ventricular septal defect, Macular atrophy, Splenomegaly, Lymphadenopathy, Poly...	OMIM:619418
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia in presence o...	ORPHA:37042
Marshall-Smith Syndrome	Atrial septal defect, Ventricular septal defect, Optic nerve hypoplasia, Dysplastic aortic valve	OMIM:602535
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
3-Methylglutaconic Aciduria, Type Viii	Bradycardia	OMIM:617248
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Splenome...	OMIM:614162
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Hepatosp...	ORPHA:35078
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Neutrophilia, Eosinophilia, Splenomegaly, Cervical lymphadenopathy, ...	ORPHA:3260
Graft Versus Host Disease	Hemophagocytosis, Lymphadenopathy, Hepatosplenomegaly	ORPHA:39812
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Hennekam Syndrome	Pericardial effusion, Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Lymphangioma, Ly...	ORPHA:2136
Lymphatic Filariasis	Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Lymphadenopathy, Lymphangi...	ORPHA:2035
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Optic nerve hypoplasia	OMIM:620029
Hydranencephaly	Dilatation of the ventricular cavity, Chorioretinal atrophy, Optic nerve hypoplasia	ORPHA:2177
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Leukocytosis, Optic atrophy, Retinal dystrophy, Optic nerve hypoplasia	OMIM:619321
Syndromic Diarrhea	Lymphopenia, Bicuspid aortic valve, Ventricular septal defect, Increased mean platelet volume, Sp...	ORPHA:84064
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Conotruncal defect, Aortic valve st...	ORPHA:2306
Asparagine Synthetase Deficiency	Optic nerve hypoplasia	OMIM:615574
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Splenomegaly, Neutrophilia, Abscess	OMIM:612852
Blau Syndrome	Pericarditis, Facial palsy, Abnormal retinal vascular morphology, Splenomegaly, Retrobulbar optic...	ORPHA:90340
Severe Generalized Junctional Epidermolysis Bullosa	Dilated cardiomyopathy, Bradycardia	ORPHA:79404
Lymphangioleiomyomatosis	Retinal hamartoma, Abnormality of the lymphatic system, Optic atrophy, Chylopericardium, Lymphade...	ORPHA:538
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic disc pallor, Bilateral microphthalmos, Optic nerve hypoplasia, Attenuation of retinal blood...	ORPHA:468631
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Thrombocytopenia, Leukopenia, Increased mean corpuscular volume, Bone marrow hyp...	OMIM:127550
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	ORPHA:391487
Autosomal Recessive Malignant Osteopetrosis	Abnormal pulmonary valve morphology, Splenomegaly, Lymphadenopathy, Optic nerve compression, Anemia	ORPHA:667
Sweet Syndrome	Acute myeloid leukemia, Neutrophilia, Leukocytosis, Dilated cardiomyopathy, Chronic lymphatic leu...	ORPHA:3243
Coccidioidomycosis	Pericarditis, Abnormal retinal morphology, Abscess, Eosinophilia, Abnormality of the spleen, Medi...	ORPHA:228123
H Syndrome	Microcytic anemia, Histiocytosis, Lymphadenopathy, Hepatosplenomegaly	ORPHA:168569
Hyperimmunoglobulinemia D With Periodic Fever	Lymphadenopathy	ORPHA:343
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia	OMIM:614204
8Q24.3 Microdeletion Syndrome	Ventricular septal defect, Optic nerve hypoplasia, Complete atrioventricular canal defect, Bilate...	ORPHA:508488
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Klatskin Tumor	Lymphadenopathy	ORPHA:99978
Craniosynostosis 4	Optic nerve hypoplasia	OMIM:600775
Familial Mediterranean Fever	Leukocytosis, Splenomegaly, Pericarditis, Neutrophilia	OMIM:249100
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Myocarditis, Cervical lymphadenopathy, Leukocytosi...	ORPHA:2331
Systemic Lupus Erythematosus	Hemolytic anemia, Lymphadenopathy, Leukopenia, Retinopathy, Thrombocytopenia	ORPHA:536
Behçet Disease	Pericarditis, Splenomegaly, Retrobulbar optic neuritis, Endocarditis, Lymphadenopathy, Optic neur...	ORPHA:117
Proboscis Lateralis	Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Optic disc coloboma, Chorioretin...	ORPHA:141099
Sarcoidosis, Susceptibility To, 1	Pancytopenia, Generalized lymphadenopathy, Optic neuropathy, Pericardial effusion, Splenomegaly, ...	OMIM:181000
Congenital Fibrosis Of Extraocular Muscles	Optic nerve hypoplasia	ORPHA:45358
Cerebrooculonasal Syndrome	Anophthalmia, Optic nerve hypoplasia	OMIM:605627
Familial Pancreatic Carcinoma	Lymphadenopathy, Peritoneal abscess, Hepatosplenomegaly	ORPHA:1333
Pancreatoblastoma	Abnormal lymph node morphology	ORPHA:677
Diaphragmatic Hernia 4, With Cardiovascular Defects	Ventricular septal defect, Optic nerve hypoplasia, Aortopulmonary window	OMIM:620025
Tetraamelia-Multiple Malformations Syndrome	Microphthalmia, Septo-optic dysplasia, Optic atrophy	ORPHA:3301
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, T l...	OMIM:619381
Primary Sjögren Syndrome	Normocytic anemia, Abnormality of the peripheral nervous system, Lymphadenopathy, Leukopenia, Nor...	ORPHA:289390
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Sinus bradycardia	OMIM:619482
Multiple Myeloma	Splenomegaly, Anemia, Lymphadenopathy	ORPHA:29073
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
African Trypanosomiasis	Narcolepsy, Delirium	ORPHA:3385
Igg4-Related Ophthalmic Disease	Eosinophilia, Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital nerve, Lympha...	ORPHA:449563
Sarcoidosis	Hemolytic anemia, Facial palsy, Eosinophilia, Thrombocytopenia, Increased T cell count, Abnormal ...	ORPHA:797
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Narcolepsy	ORPHA:293987
Rhombencephalosynapsis	Septo-optic dysplasia, Aganglionic megacolon	ORPHA:59315
Familial Mediterranean Fever	Splenomegaly, Pericarditis, Lymphadenopathy	ORPHA:342
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Anemia, Hepatosplenomegaly	ORPHA:85408
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Baller-Gerold Syndrome	Optic atrophy, Optic nerve hypoplasia, Abnormal heart morphology	OMIM:218600
Igg4-Related Dacryoadenitis And Sialadenitis	Optic nerve compression, Abnormal optic nerve morphology, Thrombocytopenia, Lymphadenopathy	ORPHA:79078
Cushing Syndrome Due To Ectopic Acth Secretion	Neoplasm of the thymus, Pancreatic endocrine tumor, Leukocytosis, Abnormal lymph node morphology,...	ORPHA:99889
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Optic nerve hypoplasia	ORPHA:457284
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Atrial septal defect, Optic atrophy, Optic nerve hypoplasia, Abnormal heart morphology	ORPHA:500150
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Gallbladder Neuroendocrine Tumor	Neuroendocrine neoplasm, Chronic noninfectious lymphadenopathy	ORPHA:100086
Igg4-Related Submandibular Gland Disease	Eosinophilia, Lymphadenopathy	ORPHA:449432
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Ventricular septal defect, Optic nerve hypoplasia	OMIM:620330
Proteasome-Associated Autoinflammatory Syndrome 1	Microcytic anemia, Cardiomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia	OMIM:256040
Chikungunya	Cervical lymphadenopathy, Neuritis, Peripheral nerve compression, Lymphadenopathy	ORPHA:324625
Pituitary Stalk Interruption Syndrome	Septo-optic dysplasia	ORPHA:95496
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Optic nerve hypoplasia	ORPHA:495875
Igg4-Related Kidney Disease	Lymphadenitis, Pericarditis, Eosinophilia, Lymphadenopathy	ORPHA:449395
Adenocarcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424016
Chilton-Okur-Chung Neurodevelopmental Syndrome	Septo-optic dysplasia, Patent foramen ovale	OMIM:619841

Histopathology

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

There is no histopathology data for Npas2

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Npas2.

No publications found that use IMPC mice or data for Npas2.

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

MGI Allele	Allele Type	Produced
Npas2^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Npas2^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Npas2^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Npas2 MGI:109232

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Npas2 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data