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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
absent optic nerve	Npas2^em1(IMPC)Mbp	HOM	Early adult	0.00
small heart	Npas2^em1(IMPC)Mbp	HOM	Early adult	0.00
preweaning lethality, incomplete penetrance	Npas2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal skin morphology	Npas2^em1(IMPC)Mbp	HOM	Early adult	0.00
increased neutrophil cell number	Npas2^em1(IMPC)Mbp	HOM	Early adult	8.08×10^-07
enlarged lymph nodes	Npas2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal heart morphology	Npas2^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased lymphocyte cell number	Npas2^em1(IMPC)Mbp	HOM	Early adult	3.95×10^-05
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

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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 (715 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	Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia	OMIM:614896
Cardiac Conduction Defect	Syncope, Arrhythmia	OMIM:115080
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d...	OMIM:617280
Epilepsy, Idiopathic Generalized, Susceptibility To, 18	Bradycardia	OMIM:619521
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia	OMIM:611938
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar...	ORPHA:3282
Long Qt Syndrome 15	2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi...	OMIM:616249
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy	Sudden cardiac death, Arrhythmia	OMIM:212500
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center, Endocardial fibrosis	OMIM:235550
His Bundle Tachycardia	Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia	ORPHA:3283
Familial Short Qt Syndrome	Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor...	ORPHA:51083
Atrial Septal Defect 6	Atrial fibrillation, Bradycardia	OMIM:613087
Obesity Due To Sim1 Deficiency	Hyperinsulinemia, Hypotension, Postural hypotension with compensatory tachycardia	ORPHA:369873
Long Qt Syndrome 9	Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia...	OMIM:611818
Long Qt Syndrome 5	Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,...	OMIM:613695
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ...	OMIM:604559
Short Qt Syndrome 2	Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde...	OMIM:609621
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr...	OMIM:616117
Progressive Familial Heart Block, Type Ii	Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc...	OMIM:140400
Long Qt Syndrome 16	Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia	OMIM:618782
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death	OMIM:600919
Atrial Standstill	Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection...	ORPHA:1344
Chronic Atrial And Intestinal Dysrhythmia	Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, Pulmonic stenosis, Ventric...	OMIM:616201
Hyperthyroidism, Familial Gestational	Tachycardia, Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating ...	OMIM:603373
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Long Qt Syndrome 8	Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card...	OMIM:618447
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death	OMIM:107970
Sick Sinus Syndrome 4	Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma...	OMIM:619464
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617173
Paroxysmal Extreme Pain Disorder	Tachycardia, Bradycardia	OMIM:167400
Cardiomyopathy, Familial Restrictive, 3	Reduced left ventricular ejection fraction, Abnormal ST segment, Restrictive cardiomyopathy, Hypo...	OMIM:612422
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ...	OMIM:612240
Cardiomyopathy, Familial Hypertrophic, 6	Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril...	OMIM:600858
Sick Sinus Syndrome 1	Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove...	OMIM:608567
Brugada Syndrome	Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc...	ORPHA:130
Optic Nerve Hypoplasia, Bilateral	Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glo...	OMIM:165550
Cardiomyopathy, Dilated, 1A	Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr...	OMIM:115200
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Sudden Cardiac Failure, Infantile	Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Sudden cardiac d...	OMIM:617222
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Bradycardia, Palpitations, Low-output congestive heart failure, Mildly red...	ORPHA:66529
Late-Onset Familial Hypoaldosteronism	Elevated serum 11-deoxycortisol, Orthostatic hypotension, Abnormal circulating corticosterone lev...	ORPHA:556037
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced...	OMIM:604772
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Increased circulating renin level, Hypotension, Hyperaldosteronism	OMIM:620125
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P...	OMIM:614021
Atrial Fibrillation, Familial, 10	Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent atrial fibrillation, Tricu...	OMIM:614022
Pheochromocytoma/Paraganglioma Syndrome 3	Chemodectoma, Adrenal pheochromocytoma, Hypertension associated with pheochromocytoma, Glomus jug...	OMIM:605373
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Sick Sinus Syndrome 2	Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P...	OMIM:163800
Cardiomyopathy, Dilated, 2I	Dilated cardiomyopathy, Supraventricular tachycardia, Severely reduced left ventricular ejection ...	OMIM:620462
Myopathy, Myofibrillar, 1	Bradycardia, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thi...	OMIM:601419
Catecholaminergic Polymorphic Ventricular Tachycardia	Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop...	ORPHA:3286
Long Qt Syndrome 13	Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn...	OMIM:613485
Post-Traumatic Pituitary Deficiency	Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes...	ORPHA:95619
Heart-Hand Syndrome, Slovenian Type	Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop...	ORPHA:168796
Romano-Ward Syndrome	Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S...	ORPHA:101016
Early-Onset Familial Hypoaldosteronism	Elevated serum 11-deoxycortisol, Orthostatic hypotension, Abnormal circulating corticosterone lev...	ORPHA:556030
Congenital Tricuspid Stenosis	Congestive heart failure, Hypotension, Tricuspid stenosis, Pulmonary arterial hypertension, Tricu...	ORPHA:95459
Microphthalmia/Coloboma 12	Microphthalmia, Remnants of the hyaloid vascular system, Optic nerve aplasia, Chorioretinal colob...	OMIM:120200
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v...	OMIM:604400
Reticuloendotheliosis, X-Linked	Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Orthostatic Hypotensive Disorder, Streeten Type	Syncope, Orthostatic hypotension	OMIM:143850
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P...	OMIM:613980
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Corticosteroid-Binding Globulin Deficiency	Hypertension, Decreased circulating cortisol level, Hypotension	OMIM:611489
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr...	ORPHA:45453
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Cardiac arrest, Premature ventricular contraction, Ventricular fibrillation, Syncope, Ventricular...	OMIM:614916
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Sick sinus syndrome, Bradycardia	OMIM:617182
Neuroendocrine Tumor Of The Colon	Melena, Hypotension, Tricuspid regurgitation, Facial telangiectasia, Right ventricular failure, A...	ORPHA:100080
Cardiomyopathy, Dilated, 1P	Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function	OMIM:609909
Congenital Isolated Acth Deficiency	Adrenal hypoplasia, Decreased circulating cortisol level, Hypotension, Adrenocorticotropin defici...	ORPHA:199296
Cardiomyopathy, Dilated, 1D	Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco...	OMIM:601494
Ventricular Fibrillation, Paroxysmal Familial, 1	Syncope, Ventricular fibrillation, Tachycardia	OMIM:603829
Brugada Syndrome 1	Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria...	OMIM:601144
Cardiomyopathy, Dilated, 1E	Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr...	OMIM:601154
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Bradycardia	ORPHA:2898
Infant Acute Respiratory Distress Syndrome	Tachycardia, Cardiac arrest, Hypotension, Bradycardia	ORPHA:70587
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Hypertension associ...	OMIM:168000
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Atrial fibrillation, Bradycardia	OMIM:614302
Bronchial Neuroendocrine Tumor	Hypotension, Tricuspid regurgitation, Pulmonary carcinoid tumor, Facial telangiectasia, Right ven...	ORPHA:97287
Atrial Fibrillation, Familial, 15	Atrial fibrillation, Atrial flutter, Sudden cardiac death, Supraventricular tachycardia	OMIM:615770
Idiopathic Congenital Hypothyroidism	Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr...	ORPHA:95717
Cardiomyopathy, Dilated, 1G	Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat...	OMIM:604145
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Reduced left ventricular endsystolic diameter, Hypertrophic cardi...	OMIM:612124
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyperactive renin-angiotensin system, Hypotension, Pseudohypoaldosteronism, Increased circulating...	OMIM:177735
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo...	ORPHA:91354
Long Qt Syndrome 2	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril...	OMIM:613688
Hyperaldosteronism, Familial, Type Iv	Hypertension, Elevated aldosterone:renin ratio, Hyperaldosteronism	OMIM:617027
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Erythrocytosis, Familial, 2	Elevated circulating erythropoietin concentration, Cerebral hemorrhage, Hypotension, Pulmonary ar...	OMIM:263400
Pure Autonomic Failure	Syncope, Abnormality of circulating catecholamine level, Orthostatic hypotension	ORPHA:441
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyperactive renin-angiotensin system, Hypotension, Hyperaldosteronism, Pseudohypoaldosteronism	OMIM:264350
Long Qt Syndrome 6	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c...	OMIM:613693
Wolff-Parkinson-White Syndrome	Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu...	OMIM:194200
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Atrial Fibrillation, Familial, 4	Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Premature atr...	OMIM:611493
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Mantle Cell Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:52416
Congenital Heart Block	Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv...	ORPHA:60041
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Neuroendocrine Tumor Of The Rectum	Melena, Hypotension, Tricuspid regurgitation, Facial telangiectasia, Right ventricular failure, H...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Melena, Hypotension, Tricuspid regurgitation, Facial telangiectasia, Right ventricular failure, H...	ORPHA:100082
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ...	OMIM:611528
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr...	OMIM:619846
Corticosterone Methyloxidase Type I Deficiency	Increased circulating renin level, Decreased circulating aldosterone level, Hypotension	OMIM:203400
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal QRS complex, Maternal diabetes, Reduced left ventr...	ORPHA:45452
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
Cardiomyopathy, Dilated, 1O	Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co...	OMIM:608569
Left Ventricular Noncompaction 8	Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat...	OMIM:615373
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular...	OMIM:615441
Ventricular Tachycardia, Familial	Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia	OMIM:192605
Malignant Hyperthermia, Susceptibility To, 1	Tachycardia, Hypotension	OMIM:145600
Perry Syndrome	Hypotension	ORPHA:178509
Immunodeficiency 104	Lymphadenopathy, Splenomegaly, T lymphocytopenia	OMIM:608971
Carnitine-Acylcarnitine Translocase Deficiency	Bradycardia, Cardiac arrest, Cardiomyopathy, Hypotension, Premature ventricular contraction, Atri...	OMIM:212138
Snakebite Envenomation	Hypotension, Cerebral ischemia, Cardiogenic shock, Epistaxis, Intracranial hemorrhage, Tachycardi...	ORPHA:449285
Atrial Standstill 2	Bradycardia, Cardiomyopathy, Atrial arrhythmia, Absent P wave, Palpitations, Atrial cardiomyopath...	OMIM:615745
Cardiomyopathy, Familial Hypertrophic, 16	Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril...	OMIM:613838
Coenzyme Q10 Deficiency, Primary, 7	Hypertrophic cardiomyopathy, Bradycardia	OMIM:616276
Familial Thyroid Dyshormonogenesis	Elevated circulating thyroid-stimulating hormone concentration, Bradycardia, Congenital hypothyro...	ORPHA:95716
Familial Progressive Cardiac Conduction Defect	Congestive heart failure, Heart block, Bundle branch block, Arrhythmia, Syncope	ORPHA:871
Immunodeficiency 24	Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell...	OMIM:615897
Cardiogenic Shock	Congestive heart failure, Abnormal left ventricular function, Low-output congestive heart failure...	ORPHA:97292
Long Qt Syndrome 3	Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop...	OMIM:603830
Immunodeficiency 53	Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin	OMIM:617585
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Paroxysmal ventricular tachycardia, Right bundle branch block, Tricuspid re...	OMIM:619897
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Bradycardia	OMIM:620265
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia	OMIM:618815
Reticular Dysgenesis	Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia	OMIM:267500
Mitochondrial Complex I Deficiency, Nuclear Type 13	Cardiac arrest, Hypertrophic cardiomyopathy, Bradycardia	OMIM:618235
Aminoacylase 1 Deficiency	Bradycardia	OMIM:609924
Supravalvular Aortic Stenosis	Angina pectoris, Hypertension, Systolic heart murmur, Arrhythmia, Syncope, Supravalvular aortic s...	ORPHA:3193
Analbuminemia	Hypotension	OMIM:616000
Kimura Disease	Follicular hyperplasia, Eosinophilia, Lymphadenopathy	ORPHA:482
Neuroendocrine Tumor Of Stomach	Hematemesis, Melena, Hypotension, Tricuspid regurgitation, Facial telangiectasia, Right ventricul...	ORPHA:100075
Trimethylaminuria	Tachycardia, Hypertension	OMIM:602079
Hydroxykynureninuria	Tachycardia, Hypotension	ORPHA:79155
Cardiomyopathy, Dilated, 2F	Congestive heart failure, Increased left ventricular end-diastolic volume, Ventricular fibrillati...	OMIM:619747
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Sick sinus syndrome, Bradycardia, Ventricular escape rhythm, Arrhythmia, Prolonged PR interval	ORPHA:542306
Cardiomyopathy, Familial Hypertrophic, 14	Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ...	OMIM:613251
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Bundle branch block, Arrhythmia	ORPHA:1479
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula...	OMIM:618920
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve...	OMIM:607450
Nipah Virus Disease	Hypotension	ORPHA:99825
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt...	OMIM:614470
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Bradycardia	OMIM:616277
Adult Acute Respiratory Distress Syndrome	Diabetic ketoacidosis, Vasculitis, Hypotension, Shock	ORPHA:70578
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Congestive heart failure, Bradycardia	OMIM:619048
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud...	OMIM:609620
Brugada Syndrome 9	Presyncope, ST segment elevation, Prolonged QT interval, Palpitations	OMIM:616399
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Wild Type Attr Amyloidosis	Congestive heart failure, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyopathy, Aortic v...	ORPHA:330001
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Ventricular fibrillation, Poly...	OMIM:115000
Microphthalmia, Syndromic 3	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Optic nerve aplasia, Ventricular septal defect	OMIM:206900
Congenital Heart Defects, Multiple Types, 3	Tachycardia, Atrial fibrillation, Right bundle branch block, Atrioventricular block, Atrioventric...	OMIM:614954
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur...	OMIM:610193
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Bradycardia, Cardiomyopathy, Hypogonadism, Arrhythmia, Abnormality of the thyroid gland, Diabetes...	OMIM:609286
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells...	OMIM:300853
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Elevated circulating thyroid-stimulating hormone concentration, Bradycardia, Congenital hypothyro...	ORPHA:226313
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Left bundle branch block, Palpitations, Supraventri...	OMIM:608758
Timothy Syndrome	Prolonged QT interval, Bradycardia, Pulmonary arterial hypertension, Hypothyroidism, Atrioventric...	OMIM:601005
Aapoaiv Amyloidosis	Atrial flutter, Left bundle branch block, Abnormal cardiac ventricular function, Left ventricular...	ORPHA:439232
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Increased circulating T4 concentration, Decreased thyroid-stimulating hormone level, Hyperthyroid...	OMIM:613239
Hemophagocytic Lymphohistiocytosis, Familial, 4	Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Neutropenia	OMIM:603552
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abs...	OMIM:150550
Long Qt Syndrome 14	2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card...	OMIM:616247
Immunodeficiency 50	Neutropenia, Lymphopenia	OMIM:300988
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy	OMIM:618987
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Congenital Toxoplasmosis	Microphthalmia, Anemia, Lymphadenopathy, Abnormality of retinal pigmentation, Thrombocytopenia, C...	ORPHA:858
Lipoyltransferase 1 Deficiency	Pulmonary arterial hypertension, Bradycardia	OMIM:616299
Familial Hypoaldosteronism	Orthostatic hypotension, Hypotension, Hypovolemia, Increased circulating renin level, Decreased c...	ORPHA:427
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant	Narcolepsy, Dementia, Memory impairment	OMIM:604121
Long Qt Syndrome 12	Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes	OMIM:612955
Mast Cell Sarcoma	Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Mastocytosis	ORPHA:66661
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Brugada Syndrome 3	J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi...	OMIM:611875
Cardiomyopathy, Familial Hypertrophic, 11	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc...	OMIM:612098
Atrial Septal Defect, Sinus Venosus Type	Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra...	ORPHA:99105
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Increased circulating androstenedione concentration, Increased serum testosterone level, Adrenoco...	ORPHA:90791
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Hypothyroidism Due To Tsh Receptor Mutations	Elevated circulating thyroid-stimulating hormone concentration, Impaired sensitivity to thyroid s...	ORPHA:90673
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Aplasia of the thymus, B lymphocytopenia, Lymph node hypoplasia, Splenomegaly, Lymphopenia, Abnor...	OMIM:602450
Cardiomyopathy, Dilated, 1Ii	Ventricular tachycardia, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy,...	OMIM:615184
Car T Cell Therapy-Associated Cytokine Release Syndrome	Heart block, Reduced left ventricular ejection fraction, Capillary leak, Hypotension, Arrhythmia,...	ORPHA:542323
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Systemic Capillary Leak Syndrome	Myocarditis, Pericarditis, Hypotension, Arrhythmia	ORPHA:188
Short Qt Syndrome 7	Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death	OMIM:620231
Cutaneous Mastocytoma	Hypotension, Telangiectasia of the skin, Telangiectasia macularis eruptiva perstans	ORPHA:79455
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Hypotension, Small intestine carcinoid, Pulmonic stenosis, Right ventricular ...	ORPHA:100078
Familial Glucocorticoid Deficiency	Decreased circulating dehydroepiandrosterone concentration, Hypotension, Hypertrophic cardiomyopa...	ORPHA:361
Autoinflammation With Episodic Fever And Lymphadenopathy	Lymphadenopathy, Microcytic anemia, Splenomegaly, Recurrent tonsillitis	OMIM:618852
Inhalational Anthrax	Hypotension, Internal hemorrhage	ORPHA:247257
Glycogen Storage Disease Of Heart, Lethal Congenital	Congestive heart failure, Bradycardia, ST segment elevation, Cardiomyopathy, Hypotension, Hypertr...	OMIM:261740
Aa Amyloidosis	Hypothyroidism, Hypotension, Adrenal insufficiency	ORPHA:85445
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Medi...	OMIM:619802
Developmental And Epileptic Encephalopathy 101	Third degree atrioventricular block, Bradycardia	OMIM:619814
Specific Granule Deficiency 1	Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida...	OMIM:245480
Mercury Poisoning	Tachycardia, Hypertension, Hypotension	ORPHA:330021
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ...	ORPHA:277
Meningococcal Meningitis	Increased circulating procalcitonin concentration, Hypotension, Shock	ORPHA:33475
Narcolepsy 3	Narcolepsy	OMIM:609039
Staphylococcal Necrotizing Pneumonia	Increased circulating procalcitonin concentration, Diabetes mellitus, Hypotension, Shock	ORPHA:36238
Non-Functioning Pituitary Adenoma	Female hypogonadism, Hypogonadism, Central adrenal insufficiency, Adrenal insufficiency, Decrease...	ORPHA:91349
Aromatic L-Amino Acid Decarboxylase Deficiency	Increased circulating prolactin concentration, Hypotension	ORPHA:35708
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul...	OMIM:609040
Coenzyme Q10 Deficiency, Primary, 5	Bradycardia	OMIM:614654
Mu-Heavy Chain Disease	Lymphadenopathy, Anemia, Splenomegaly, Abnormal B cell count	ORPHA:100024
Cardiomyopathy, Dilated, 1Nn	Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri...	OMIM:615916
Brugada Syndrome 8	Ventricular tachycardia, Right bundle branch block, ST segment elevation	OMIM:613123
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion o...	OMIM:615559
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:169154
Immunodeficiency 27A	Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged mesenteric lymp...	OMIM:209950
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Pericardial...	OMIM:613011
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neonatal death, Neutropenia	OMIM:257100
Renal Tubular Dysgenesis	Hypotension	OMIM:267430
Immunodeficiency 32A	Granuloma, Lymphadenitis, Lymphadenopathy	OMIM:614893
Cinca Syndrome	Anemia, Lymphadenopathy, Leukocytosis, Papilledema, Hepatosplenomegaly, Eosinophilia	OMIM:607115
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Excessive insulin response to glucagon test, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Dif...	ORPHA:276575
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly...	OMIM:618986
Hyperaldosteronism, Familial, Type Ii	Hypertension, Hyperaldosteronism	OMIM:605635
Immunodeficiency, Common Variable, 1	Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Neutro...	OMIM:607594
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly	OMIM:613101
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Excessive insulin response to glucagon test, Hyperinsulinemia, Maternal diabetes, Diffuse pancrea...	ORPHA:276580
Illum Syndrome	Bradycardia	OMIM:208155
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Atrioventricular block, Bradycardia	OMIM:614407
Tetanus	Tachycardia, Hypertension, Bradycardia	ORPHA:3299
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Iron deficiency anemia, Neutropenia in presence of anti-neutropil an...	OMIM:601859
Mitochondrial Trifunctional Protein Deficiency 2	Hypotension, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgi...	OMIM:620300
Brugada Syndrome 6	ST segment elevation, Cardiac arrest, Ventricular fibrillation	OMIM:613119
Dengue Fever	Cerebral hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Hypotension	ORPHA:99828
Infant Botulism	Hypertension, Cardiac arrest, Hypotension	ORPHA:178478
Combined Oxidative Phosphorylation Deficiency 10	Hypertrophic cardiomyopathy, Bradycardia	OMIM:614702
Pituitary Apoplexy	Central diabetes insipidus, Decreased response to growth hormone stimulation test, Reduced circul...	ORPHA:95613
Late-Onset Isolated Acth Deficiency	Hypoparathyroidism, Orthostatic hypotension, Decreased circulating ACTH concentration, Hypotensio...	ORPHA:199299
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Abnormal neutrophil count, Lymphadenopathy, Myeloproliferative disorder, Leukocyt...	ORPHA:3226
Burkitt Lymphoma	Decreased proportion of CD4-positive helper T cells, Abnormal lymph node morphology, Abnormality ...	ORPHA:543
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia	ORPHA:264200
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Neutropenia in presence of ...	OMIM:603909
Acquired Von Willebrand Syndrome	Gastrointestinal hemorrhage, Aortic regurgitation, Melena, Hypotension, Pulmonic stenosis, Aortic...	ORPHA:99147
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Aplasia/Hypoplasia of the optic nerve, Optic nerve hypoplasia, Pulmonic stenosis, Abnormal pulmon...	ORPHA:137634
Relapsing Fever	Tachycardia, Epistaxis, Hypotension	ORPHA:91547
Narcolepsy 1	Narcolepsy	OMIM:161400
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level	OMIM:605115
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular tachycardia, Cardiomyopathy, Hypotension, Arrhythmia	ORPHA:159
Immunodeficiency 18	Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L...	OMIM:615615
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Abnormal T cell ...	OMIM:308240
Sheehan Syndrome	Central diabetes insipidus, Orthostatic hypotension, Reduced circulating prolactin concentration,...	ORPHA:91355
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach...	ORPHA:300751
Neuroendocrine Neoplasm Of Appendix	Adrenocorticotropic hormone excess, Tricuspid stenosis, Hypotension, Heart murmur, Palpitations, ...	ORPHA:100079
Chromosome 5Q12 Deletion Syndrome	Hypotension	OMIM:615668
Tsh-Secreting Pituitary Adenoma	Delayed puberty, Hypertension, Female hypogonadism, Hypogonadism, Central adrenal insufficiency, ...	ORPHA:91347
Ventricular Fibrillation, Paroxysmal Familial, 2	Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction	OMIM:612956
Leukocyte Adhesion Deficiency, Type Iii	Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Extramedu...	OMIM:612840
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr...	ORPHA:276
Immunodeficiency 7	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neutropenia	OMIM:615387
Glycogen Storage Disease Iv	Cardiomyopathy, Portal hypertension, Bradycardia	OMIM:232500
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Abnormal lymph node morphology, Anemia, Abnormality of the lymphatic system, Neutr...	ORPHA:54251
Corticosterone Methyloxidase Type Ii Deficiency	Orthostatic hypotension, Increased circulating corticosterone level, Increased circulating renin ...	OMIM:610600
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Restrictive cardio...	OMIM:619313
Immunodeficiency 109 With Lymphoproliferation	Generalized lymphadenopathy, Absent circulating B cells, Splenomegaly, Pancytopenia	OMIM:620282
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	First degree atrioventricular block, Ventricular tachycardia, Left bundle branch block	OMIM:615616
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Lymphadenopathy, Splenomegaly	ORPHA:86893
Narcolepsy 7	Narcolepsy	OMIM:614250
Acute Adrenal Insufficiency	Delayed puberty, Orthostatic hypotension, Adrenal hypoplasia, Androgen insufficiency, Hypotension...	ORPHA:95409
Fanconi Anemia, Complementation Group I	Microphthalmia, Optic nerve hypoplasia, Patent foramen ovale, Bone marrow hypocellularity, Atrial...	OMIM:609053
Prolactinoma	Delayed puberty, Anterior hypopituitarism, Decreased circulating ACTH concentration, Pituitary hy...	ORPHA:2965
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased response to growth hormone stimulation test, Decreased circulating ACTH concentration, ...	ORPHA:293978
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Tachycardia, Syncope, Premature ventricular contraction	OMIM:192445
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat...	ORPHA:75564
Indolent Systemic Mastocytosis	Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytosis, Splenomegaly, Abnormal m...	ORPHA:98848
Scrub Typhus	Myocarditis, Hypotension	ORPHA:83317
Cardiomyopathy, Familial Hypertrophic, 17	Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Ventricular tach...	OMIM:613873
Peripartum Cardiomyopathy	Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Abnormality of thyr...	ORPHA:563
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, Bone marrow hy...	OMIM:301078
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Abnormal lymph node mo...	ORPHA:911
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia	OMIM:608184
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic...	OMIM:619375
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Lymphangiectasia, Intestinal	Stillbirth, Intestinal lymphangiectasia, Lymphopenia	OMIM:152800
Follicular Lymphoma	Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly	ORPHA:545
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc...	OMIM:202700
Hyperinsulinism Due To Ucp2 Deficiency	Excessive insulin response to glucagon test, Hyperinsulinemic hypoglycemia, Diffuse pancreatic is...	ORPHA:276556
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Tachycardia, Palpitations, Goiter, Hyperthyroidism	OMIM:188580
Hyperinsulinism Due To Hnf1A Deficiency	Excessive insulin response to glucagon test, Maturity-onset diabetes of the young, Hyperinsulinem...	ORPHA:324575
Atrial Fibrillation, Familial, 14	Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval	OMIM:615378
Alpha-Heavy Chain Disease	Lymphadenopathy, Anemia, Splenomegaly	ORPHA:100025
Pde4D Haploinsufficiency Syndrome	Elevated circulating parathyroid hormone level, Hypotension	ORPHA:439822
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Bradycardia	OMIM:614498
Gitelman Syndrome	Delayed puberty, Prolonged QT interval, Hypotension, Increased circulating renin level, Ventricul...	OMIM:263800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Syncope, Palpitations, Sinus bradycardia, Second degree atrioventricular block	OMIM:616812
Congenitally Corrected Transposition Of The Great Arteries	Bradycardia, Pulmonic stenosis, Arrhythmia, Heart murmur, Mobitz I atrioventricular block, Aortic...	ORPHA:216694
Serotonin Syndrome	Tachycardia, Hypertension, Hypotension	ORPHA:43116
Necrotizing Enterocolitis	Shock, Hypotension, Bradycardia	ORPHA:391673
Glutamine Deficiency, Congenital	Bradycardia	OMIM:610015
Tularemia	Cervical lymphadenopathy, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Leukocytosis, Thr...	ORPHA:3392
Immunodeficiency, Common Variable, 2	Follicular hyperplasia, Lymphadenopathy, Splenomegaly, Abnormal T cell count	OMIM:240500
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal T-wave, Arrhythmia, Abnormal ST segment	ORPHA:1055
Caspase 8 Deficiency	Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly	OMIM:607271
Acitretin/Etretinate Embryopathy	Third degree atrioventricular block, Hypoplasia of the thymus, Bradycardia	ORPHA:40366
Immunodeficiency 21	Aplastic anemia, Anemia, Neutropenia, B lymphocytopenia, Lymphopenia, Monocytopenia, Reduced natu...	OMIM:614172
Bartter Syndrome, Type 3	Increased circulating renin level, Hypotension, Hyperaldosteronism, Hyperactive renin-angiotensin...	OMIM:607364
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis	Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia	OMIM:247800
Isolated Thyroid-Stimulating Hormone Deficiency	Decreased thyroid-stimulating hormone level, Bradycardia, Pituitary hypothyroidism, Increased pit...	ORPHA:90674
Microphthalmia, Isolated 8	Microphthalmia, True anophthalmia, Anophthalmia, Retinal detachment, Optic nerve hypoplasia, Reti...	OMIM:615113
Legionnaires Disease	Myocarditis, Pericarditis, Hypotension, Arrhythmia	ORPHA:549
Schnitzler Syndrome	Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly	ORPHA:37748
Griscelli Syndrome Type 2	Lymphadenopathy, Hemophagocytosis, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:79477
Long-Olsen-Distelmaier Syndrome	Microspherophakia, Optic nerve hypoplasia, Secundum atrial septal defect, Cardiomegaly, Dilated c...	OMIM:620609
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly	OMIM:611762
Pheochromocytoma--Islet Cell Tumor Syndrome	Congestive heart failure, Pheochromocytoma, Episodic hypertension, Cerebral hemorrhage, Positive ...	OMIM:171420
Roifman Syndrome	Lymphadenopathy, Retinal dystrophy, Noncompaction cardiomyopathy, Splenomegaly, Eosinophilia, Ven...	OMIM:616651
Whipple Disease	Myocarditis, Gastrointestinal hemorrhage, Hypotension, Hypothyroidism, Pericarditis, Myocardial i...	ORPHA:3452
Lipodystrophy, Congenital Generalized, Type 4	Hyperinsulinemia, Prolonged QT interval, Bradycardia, Atrial fibrillation, Tachycardia	OMIM:613327
Bornholm Eye Disease	Optic nerve hypoplasia, Abnormality of retinal pigmentation	OMIM:300843
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Cardiomyopathy, Dilated, 1Y	Congestive heart failure, Increased left ventricular end-diastolic volume, Atrial fibrillation, L...	OMIM:611878
Leishmaniasis	Anemia, Lymphadenopathy, Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, ...	ORPHA:507
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Lymphadenitis, Granuloma, Hepatosplenom...	OMIM:618935
Colchicine Poisoning	Myocarditis, Congestive heart failure, Hypotension, Hypovolemia, Cardiogenic shock, Arrhythmia	ORPHA:31824
Non-Acquired Panhypopituitarism	Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s...	ORPHA:90695
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly	OMIM:618495
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hypotension	ORPHA:79456
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Neuroendocrine neoplasm	ORPHA:100083
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Hypotension, Portal hypertension	ORPHA:98850
Cyclic Neutropenia	Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Lymphopenia, Tooth abscess, Thrombocyto...	ORPHA:2686
Optic Atrophy 11	Optic atrophy, Decreased sensory nerve conduction velocity, Optic nerve hypoplasia, Facial dipleg...	OMIM:617302
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Delayed puberty, Absence of secondary sex characteristics, Adrenocorticotropic hormone excess, Ad...	ORPHA:289548
Cocaine Intoxication	Ischemic stroke, Prolonged QT interval, Supraventricular arrhythmia, Hypertension, Hypotension, H...	ORPHA:90068
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Hypothyroidism, Congenital, Nongoitrous, 2	Elevated circulating thyroid-stimulating hormone concentration, Thyroid agenesis, Bradycardia, Th...	OMIM:218700
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Delayed puberty, Absence of secondary sex characteristics, Adrenocorticotropic hormone excess, Ad...	ORPHA:168558
Neutropenia, Severe Congenital, 2, Autosomal Dominant	B lymphocytopenia, Monocytosis, Neutropenia	OMIM:613107
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome	Narcolepsy, Mental deterioration, Memory impairment	ORPHA:314404
Roifman Syndrome	Lymphadenopathy, Retinal dystrophy, Noncompaction cardiomyopathy, Hepatosplenomegaly, Eosinophilia	ORPHA:353298
Classic Mycosis Fungoides	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly	ORPHA:2584
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Ventricular septal defect, Leukopenia, Splenomegaly, Lymphopenia	OMIM:620210
Addison Disease	Delayed puberty, Hypoparathyroidism, Orthostatic hypotension, Adrenal hypoplasia, Androgen insuff...	ORPHA:85138
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Ethylene Glycol Poisoning	Congestive heart failure, Prolonged QT interval, Atrial fibrillation, Hypertension, Hypotension, ...	ORPHA:31826
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased response to growth hormone stimulation test, Decreased thyroid-stimulating hormone leve...	ORPHA:226307
Mitochondrial Complex I Deficiency, Nuclear Type 37	Pulmonary arterial hypertension, Bradycardia	OMIM:619272
Immunodeficiency 54	Lymphadenopathy, Reduced natural killer cell count, Splenomegaly	OMIM:609981
Acute Radiation Syndrome	Hypotension, Telangiectasia	ORPHA:454831
Hemochromatosis, Type 3	Cardiomyopathy, Neutropenia, Anemia, Lymphopenia	OMIM:604250
Activated Pi3K-Delta Syndrome	B lymphocytopenia, Lymphadenopathy, Splenomegaly, Recurrent tonsillitis	ORPHA:397596
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia	ORPHA:169079
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Optic atrophy, Optic nerve hypoplasia, Peripheral axonal neuropathy, Hypertrophic cardiomyopathy	ORPHA:496790
Atrial Tachyarrhythmia With Short Pr Interval	Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a...	OMIM:108950
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Increased circulating ACTH level, Increased circulating androstenedione concentration, Premature ...	ORPHA:90794
Hyperthyroidism, Nonautoimmune	Increased circulating T4 concentration, Increased circulating free T3, Decreased thyroid-stimulat...	OMIM:609152
Cinca Syndrome	Anemia, Lymphadenopathy, Leukocytosis, Abnormal granulocyte morphology, Splenomegaly, Abnormality...	ORPHA:1451
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:615122
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Sinus bradycardia	OMIM:126320
Joubert Syndrome 40	Optic nerve hypoplasia	OMIM:619582
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Bradycardia	OMIM:608800
Primary Myelofibrosis	Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, Poikilocytosis...	ORPHA:824
Transcobalamin Deficiency	Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia	ORPHA:859
Congenital Enterovirus Infection	Myocarditis, Cardiomyopathy, Hypotension	ORPHA:292
Omenn Syndrome	Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymphocytopenia, T...	OMIM:603554
Neuroleptic Malignant Syndrome	Bradycardia, Hypertension, Hypotension, Hypertensive crisis, Arrhythmia, Tachycardia, Pulmonary e...	ORPHA:94093
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:97290
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Eosinophilia, Lymphopenia	ORPHA:2582
Hyperlysinemia, Type I	Optic nerve hypoplasia, Anemia	OMIM:238700
Sepsis In Premature Infants	Tachycardia, Hypotension, Bradycardia	ORPHA:90051
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:319487
Glossopharyngeal Neuralgia	Syncope, Jaw claudication, Bradycardia	ORPHA:221098
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Retinal detachment, Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Pseudo-Torch Syndrome 2	Cerebral hemorrhage, Bradycardia	OMIM:617397
Cholera	Tachycardia, Hypovolemic shock, Hypotension	ORPHA:173
Alexander Disease	Hypertension, Hypotension, Hypothyroidism, Precocious puberty, Diabetes mellitus, Sudden cardiac ...	ORPHA:58
Systemic Lupus Erythematosus 17	Optic neuritis, Thrombocytopenia, Leukopenia, Lymphopenia, Autoimmune thrombocytopenia	OMIM:301080
Chromosome 19P13.13 Deletion Syndrome	Optic atrophy, Optic nerve hypoplasia	OMIM:613638
Immunodeficiency 32B	Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, Impaired oxida...	OMIM:226990
X-Linked Intellectual Disability, Najm Type	Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma	ORPHA:163937
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi...	OMIM:304790
Polymicrogyria With Optic Nerve Hypoplasia	Optic nerve hypoplasia	ORPHA:250972
Hennekam-Beemer Syndrome	Hypotension, Telangiectasia of the skin, Arrhythmia	ORPHA:2135
Cardiofaciocutaneous Syndrome 4	Pulmonic stenosis, Optic nerve hypoplasia, Ventricular septal hypertrophy, Abnormal aortic valve ...	OMIM:615280
Middle Ear Neuroendocrine Tumor	Carcinoid tumor, Facial palsy, Chronic noninfectious lymphadenopathy, Neuroendocrine neoplasm	ORPHA:100084
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Orthostatic Hypotension 2	Orthostatic hypotension	OMIM:618182
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Hypertrophic cardiomyopathy, Bradycardia	OMIM:618775
Immunodeficiency 13	B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho...	OMIM:615518
Pfapa Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:42642
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell ...	OMIM:613179
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari...	OMIM:618849
Chediak-Higashi Syndrome	Decreased nerve conduction velocity, Anemia, Hemophagocytosis, Lymphadenopathy, Ocular albinism, ...	OMIM:214500
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Situs inversus totalis, Optic nerve hypoplasia, Microphthalmia	OMIM:614833
Felty Syndrome	Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularity, Pericarditi...	ORPHA:47612
Fragile X-Associated Tremor/Ataxia Syndrome	Hypothyroidism, Hypertension, Hypotension	ORPHA:93256
Coronary Arterial Fistula	Congestive heart failure, Tachycardia, Angina pectoris, Elevated jugular venous pressure, Pulmona...	ORPHA:2041
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Bradycardia, Cardiac arrest, Hypotension, Pulmonary arterial hypertension, Tachycardia	OMIM:277400
Lujo Hemorrhagic Fever	Myocarditis, Bradycardia, Hypotension, Subconjunctival hemorrhage, Shock	ORPHA:319213
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, B lymphocytopenia, Thrombocytopenia, Decreased proportion of memory B cells, Inc...	OMIM:618048
Autosomal Dominant Hypocalcemia	Congestive heart failure, Hypotension, Arrhythmia	ORPHA:428
Congenital Myopathy 22A, Classic	Tricuspid regurgitation, Bradycardia	OMIM:620351
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic atrophy, Microphthalmia, Retinal detachment, Optic nerve hypoplasia, Cardiomyopathy	ORPHA:370959
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia, Cervical lymphadenopathy, Inguinal lymphadenopathy	OMIM:620514
Beta-Ketothiolase Deficiency	Hypertension, Hypotension	ORPHA:134
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Bacterial Toxic-Shock Syndrome	Myocarditis, Capillary leak, Hypotension, Tachycardia, Shock	ORPHA:36234
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Hypertension, Retinal hemorrhage, Bradycardia	OMIM:614653
Crimean-Congo Hemorrhagic Fever	Hematemesis, Bradycardia, Hypertension, Inappropriate antidiuretic hormone secretion, Epistaxis, ...	ORPHA:99827
Noonan Syndrome 12	Ventricular septal defect, Thrombocytopenia, Tetralogy of Fallot, Lymphopenia	OMIM:618624
Immunodeficiency 91 And Hyperinflammation	Hemophagocytosis, Lymphadenopathy, Neutrophilia, Thrombocytopenia, Hepatosplenomegaly, Monocytosis	OMIM:619644
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Optic nerve hypoplasia, Pulmonic stenosis, Thrombocytopenia, Leukopenia, Double outlet right vent...	OMIM:301056
Bresek Syndrome	Optic nerve hypoplasia, Microphthalmia, Aganglionic megacolon, Neonatal death	ORPHA:85284
Diamond-Blackfan Anemia 4	Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Atrial septal defect, Neutropenia	OMIM:612527
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:620481
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Hypertension, Hypotension	OMIM:174000
Poliomyelitis	Hypovolemic shock, Hypertension, Hypotension	ORPHA:2912
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Thrombocyto...	ORPHA:100026
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi...	ORPHA:331206
Gitelman Syndrome	Delayed puberty, Prolonged QT interval, Maternal diabetes, Diabetic ketoacidosis, Prominent U wav...	ORPHA:358
Septooptic Dysplasia	Optic nerve hypoplasia, Optic disc hypoplasia	OMIM:182230
American Trypanosomiasis	Myocarditis, Aganglionic megacolon, Lymphadenopathy, Cardiomyopathy, Splenomegaly	ORPHA:3386
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Lymphadenopathy, Bone-marrow foam cells, Cherry red spot of the macula, S...	OMIM:257200
Hemorrhagic Fever-Renal Syndrome	Hematemesis, Melena, Capillary leak, Hypertension, Hypotension, Internal hemorrhage, Epistaxis, S...	ORPHA:340
Heme Oxygenase 1 Deficiency	Lymphadenopathy, Asplenia, Coombs-positive hemolytic anemia, Thrombocytosis, Cervical lymphadenop...	OMIM:614034
Cognitive Impairment With Or Without Cerebellar Ataxia	Optic nerve hypoplasia	OMIM:614306
Boutonneuse Fever	Thrombocytopenia, Leukopenia, Lymphadenopathy, Cervical lymphadenopathy	ORPHA:83313
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Omenn Syndrome	Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Eosinophilia	ORPHA:39041
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Optic nerve hypoplasia	OMIM:618890
Immunodeficiency 14B, Autosomal Recessive	Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis	OMIM:619281
Congenital Disorder Of Glycosylation, Type Im	Dilated cardiomyopathy, Bradycardia	OMIM:610768
Tatton-Brown-Rahman Syndrome	Optic nerve hypoplasia, Atrial septal defect, Ventricular septal defect	OMIM:615879
Griscelli Syndrome	Lymphadenopathy, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Splenomegaly, Abnorma...	ORPHA:381
Systemic Mastocytosis With Associated Hematologic Neoplasm	Syncope, Hypotension, Tachycardia	ORPHA:98849
D-Glyceric Aciduria	Bradycardia	OMIM:220120
Aniridia-Intellectual Disability Syndrome	Optic nerve hypoplasia, Aniridia	ORPHA:1068
Adult-Onset Still Disease	Myocarditis, Anemia, Lymphadenopathy, Leukocytosis, Bone marrow hypocellularity, Pericarditis, Ne...	ORPHA:829
Combined Oxidative Phosphorylation Defect Type 39	Bradycardia	ORPHA:565624
Optic Atrophy-Intellectual Disability Syndrome	Optic atrophy, Optic nerve hypoplasia, Optic disc hypoplasia	ORPHA:401777
3-Hydroxy-3-Methylglutaric Aciduria	Dilated cardiomyopathy, Cardiac arrest, Hypotension	ORPHA:20
Craniotelencephalic Dysplasia	Optic atrophy, Microphthalmia, Septo-optic dysplasia	ORPHA:1528
Verheij Syndrome	Optic nerve hypoplasia, Truncus arteriosus, Ventricular septal defect	OMIM:615583
Systemic-Onset Juvenile Idiopathic Arthritis	Lymphadenopathy, Splenomegaly, Pericarditis	ORPHA:85414
5Q14.3 Microdeletion Syndrome	Optic nerve hypoplasia	ORPHA:228384
Macrophage Activation Syndrome	Anemia, Hemophagocytosis, Abnormal natural killer cell count, Lymphadenopathy, Thrombocytopenia, ...	ORPHA:158061
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
Von Hippel-Lindau Disease	Myocarditis, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Pancreatic islet cell adenoma,...	ORPHA:892
Immunodeficiency 10	Autoimmune hemolytic anemia, Lymphadenopathy, Abnormal lymphocyte count, Hypoplasia of the iris, ...	OMIM:612783
Acute Monoblastic/Monocytic Leukemia	Cervical lymphadenopathy, Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochro...	ORPHA:514
Aromatic L-Amino Acid Decarboxylase Deficiency	Hypotension	OMIM:608643
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Lymphopenia	OMIM:207731
Combined Pituitary Hormone Deficiencies, Genetic Forms	Delayed puberty, Absence of secondary sex characteristics, Decreased response to growth hormone s...	ORPHA:95494
Cold Agglutinin Disease	Lymphadenopathy, Splenomegaly, Hemolytic anemia	ORPHA:56425
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia	OMIM:616100
Fish-Eye Disease	Lymphadenopathy, Splenomegaly	ORPHA:79292
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres...	OMIM:600802
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons...	OMIM:606367
Hyper-Igd Syndrome	Lymphadenopathy, Leukocytosis, Lymphadenitis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Rod...	OMIM:260920
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An...	OMIM:617780
Pheochromocytoma/Paraganglioma Syndrome 4	Chemodectoma, Adrenal pheochromocytoma, Hypertension associated with pheochromocytoma, Glomus jug...	OMIM:115310
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Optic nerve hypoplasia	ORPHA:65288
Rhabdoid Tumor	Thrombocytopenia, Anemia, Lymphadenopathy	ORPHA:69077
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy	ORPHA:391
Castleman Disease	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Restrictive cardiomyopathy, Thrombocytopeni...	ORPHA:160
Agammaglobulinemia, X-Linked	Anemia, B lymphocytopenia, T lymphocytopenia, Lymph node hypoplasia, Cor pulmonale, Neutropenia	OMIM:300755
Neurodevelopmental Disorder With Language Delay And Variable Cognitive Abnormalities	Optic nerve hypoplasia	OMIM:620502
Sneddon Syndrome	Bicuspid aortic valve, Facial palsy, Lymphopenia	OMIM:182410
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells	OMIM:617099
Acute Promyelocytic Leukemia	Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia	ORPHA:520
Hellp Syndrome	Cerebral hemorrhage, Hypotension, Internal hemorrhage	ORPHA:244242
Adult Idiopathic Neutropenia	Monocytopenia, Monocytosis, Neutropenia, Lymphopenia	ORPHA:2688
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche...	OMIM:614700
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence of anti-neutropil antibodie...	ORPHA:436159
Cerebral Visual Impairment	Optic atrophy, Optic nerve hypoplasia, Increased cup-to-disc ratio, Retinopathy of prematurity, O...	ORPHA:447788
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ...	OMIM:608203
Sézary Syndrome	Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly	ORPHA:3162
Intellectual Developmental Disorder, Autosomal Dominant 70	Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia	OMIM:620157
Stiff-Person Syndrome	Tachycardia, Diabetes mellitus, Hypertension	OMIM:184850
Pheochromocytoma	Congestive heart failure, Pheochromocytoma, Episodic hypertension, Cerebral hemorrhage, Positive ...	OMIM:171300
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Tachycardia	OMIM:221400
Encephalitis Lethargica	Bradycardia	ORPHA:83600
Hereditary Angioedema Type 1	Hypotension	ORPHA:100050
Myotonic Dystrophy 2	Right bundle branch block, Premature ventricular contraction, Elevated circulating follicle stimu...	OMIM:602668
Idiopathic Aplastic Anemia	Anemia, Pancytopenia, Reticulocytopenia, Retinal hemorrhage, Bone marrow hypocellularity, Thrombo...	ORPHA:88
Exercise-Induced Malignant Hyperthermia	Prolonged QT interval, Sinus tachycardia, Abnormal pulse pressure, Hypotension, ST segment depres...	ORPHA:466650
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Optic nerve hypoplasia, Thrombocytopenia, Dilated cardiomyopat...	ORPHA:261250
Pleural Mesothelioma	Lymphadenopathy	ORPHA:50251
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, Lymphopenia, Abnormally low T cell ...	OMIM:242700
Squalene Synthase Deficiency	Bicuspid aortic valve, Optic nerve hypoplasia	OMIM:618156
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Optic nerve hypoplasia	OMIM:618736
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy	ORPHA:411703
Tafro Syndrome	Anemia, Lymphadenopathy, Leukocytosis, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly	ORPHA:457077
Combined Oxidative Phosphorylation Deficiency 39	Type I diabetes mellitus, Sinus bradycardia	OMIM:618397
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy, Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Lissencephaly Due To Tuba1A Mutation	Optic nerve hypoplasia, Aganglionic megacolon	ORPHA:171680
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Lymphadenopathy, Leukocytosis, Normocytic hypoplastic anemia, A...	OMIM:610377
Nabais Sa-De Vries Syndrome, Type 1	Optic nerve hypoplasia	OMIM:618828
Drug Reaction With Eosinophilia And Systemic Symptoms	Lymphocytosis, Eosinophilia, Myocarditis, Lymphadenopathy	ORPHA:139402
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P...	OMIM:619767
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Optic nerve hypoplasia	OMIM:618381
Immunodeficiency 110 With Lymphoproliferation	Autoimmune hemolytic anemia, Patent foramen ovale, Secundum atrial septal defect, Lymphopenia, Ne...	OMIM:614868
Stromme Syndrome	Stillbirth, Microphthalmia, Accessory spleen, Optic nerve hypoplasia, Retinal vascular tortuosity	OMIM:243605
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Anemia, Abnormal natural killer cell count, Pancytopenia, Abnormal lymphocyte count, T lymphocyto...	ORPHA:79124
Phace Association	Optic atrophy, Microphthalmia, Optic nerve hypoplasia, Increased retinal vascularity, Ventricular...	OMIM:606519
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, Bilateral microphthalmos	OMIM:607597
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Increased B cell count, Absent peripheral lymph nodes in presence of infection, Increased T cell ...	ORPHA:98813
Lysosomal Acid Lipase Deficiency	Hypotension, Hypovolemia, Pulmonary arterial hypertension, Primary adrenal insufficiency, Adrenal...	ORPHA:275761
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Lymphadenopathy, Hepatosplenomegaly, Microcytic anemia	OMIM:619750
Autosomal Dominant Severe Congenital Neutropenia	Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,...	ORPHA:486
Combined Immunodeficiency Due To Crac Channel Dysfunction	Lymphadenopathy, Hypoplasia of the iris, Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:169090
Tangier Disease	Anemia, Peripheral axonal neuropathy, Facial diplegia, Chronic noninfectious lymphadenopathy, Cor...	ORPHA:31150
Proximal Spinal Muscular Atrophy	Bradycardia	ORPHA:70
Mixed Connective Tissue Disease	Myocarditis, Mediastinal lymphadenopathy, Lymphadenopathy, Pericarditis, Leukopenia, Splenomegaly...	ORPHA:809
Desmoplastic Small Round Cell Tumor	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:83469
Pseudomyxoma Peritonei	Lymphadenopathy	ORPHA:26790
Marburg Hemorrhagic Fever	Bradycardia, Capillary leak, Hypotension, Hypovolemia, Internal hemorrhage, Pericarditis, Subconj...	ORPHA:99826
Kaposi Sarcoma	Generalized lymphadenopathy, Abnormality of the spleen, Abnormal retinal morphology	ORPHA:33276
Carcinoid Syndrome	Chronic noninfectious lymphadenopathy, Small intestine carcinoid, Pulmonary carcinoid tumor, Carc...	ORPHA:100093
Pediatric Systemic Lupus Erythematosus	Lymphadenopathy, Lymphopenia, Pericardial effusion, Thrombocytopenia, Leukopenia, Microangiopathi...	ORPHA:93552
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Anemia, Lymphadenopathy, Cardiomyopathy, Lymphadenitis, Leukocytosis, Splenomegaly, Dilated cardi...	OMIM:615895
Kikuchi-Fujimoto Disease	Myocarditis, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Lymphocytosis, Leukopenia, ...	ORPHA:50918
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Optic atrophy, Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Bone marrow hypocellularity, ...	OMIM:615688
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Carcinoid tumor, Chronic noninfectious lymphadenopathy	ORPHA:79140
Rhizomelic Chondrodysplasia Punctata, Type 2	Optic nerve hypoplasia, Tetralogy of Fallot	OMIM:222765
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Optic nerve hypoplasia	ORPHA:363686
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Complete Atrioventricular Septal Defect	Elevated pulmonary artery pressure, Congestive heart failure, Third heart sound, Elevated jugular...	ORPHA:1329
Hypocomplementemic Urticarial Vasculitis	Abnormal heart valve morphology, Lymphadenopathy, Pericardial effusion, Splenomegaly	ORPHA:36412
Carney Triad	Gastrointestinal hemorrhage, Adrenocortical adenoma, Pheochromocytoma, Adrenal overactivity, Hype...	ORPHA:139411
Trichothiodystrophy 5, Nonphotosensitive	Optic nerve hypoplasia, Retinal dystrophy	OMIM:300953
Nephroblastoma	Lymphadenopathy, Aniridia	ORPHA:654
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Decreased proportion of CD3-positive T cells, Eosinophilia, Hepatosplenomegaly, Lymphopenia	ORPHA:169160
Immunodeficiency 85 And Autoimmunity	T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr...	OMIM:619510
Abnormal Hair, Joint Laxity, And Developmental Delay	Sinus bradycardia, Mitral regurgitation, Tricuspid regurgitation	OMIM:261990
Primary Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T cells, Abnormal lymph...	ORPHA:90362
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Poikilocytosis, Bone marrow hypocellularity, Elliptocytosis, Anisocytosis, Thr...	OMIM:300835
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	B lymphocytopenia, Optic nerve hypoplasia, Decreased proportion of CD4-positive helper T cells, R...	ORPHA:221139
Neuroblastoma	Elevated circulating catecholamine level, Hypertension	ORPHA:635
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti...	OMIM:617237
Lig4 Syndrome	Acute leukemia, Lymphadenopathy, Leukocytosis, Pancytopenia	ORPHA:99812
Chédiak-Higashi Syndrome	Decreased nerve conduction velocity, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast...	ORPHA:167
Hemophagocytic Lymphohistiocytosis, Familial, 2	Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Leukopenia, Splenomegaly, Hepatosplenome...	OMIM:603553
Leptospirosis	Hypotension, Retinal hemorrhage, Pericarditis, Subconjunctival hemorrhage, Arrhythmia, First degr...	ORPHA:509
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impaired oxidative b...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impaired oxidative b...	OMIM:233710
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly	OMIM:619183
Malignant Hyperthermia, Susceptibility To, 5	Tachycardia	OMIM:601887
Familial Hemophagocytic Lymphohistiocytosis	Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Neutropenia	ORPHA:540
Pgm3-Cdg	Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie...	ORPHA:443811
White-Sutton Syndrome	Optic nerve hypoplasia, Patent foramen ovale, Rod-cone dystrophy, Atrial septal defect	OMIM:616364
Proteasome-Associated Autoinflammatory Syndrome 3	Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Lymphopenia	OMIM:617591
Hemophagocytic Lymphohistiocytosis, Familial, 1	Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Leukopenia, Splenomegaly	OMIM:267700
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Paratracheal lymphadenopathy, Leukopenia, Lymphopenia, Thrombocytosis, Follicular hyperpl...	OMIM:615934
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Lymphocytosis, Neutropenia in presence of anti-neut...	ORPHA:3261
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Pulmonic stenosis, Secu...	OMIM:612541
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impaired oxidative b...	OMIM:233690
Immunodeficiency With Hyper-Igm, Type 1	Enlarged tonsils, Thrombocytopenia, Splenomegaly, Absence of lymph node germinal center, Hemolyti...	OMIM:308230
Fg Syndrome Type 1	Optic nerve hypoplasia, Atrial septal defect, Mitral valve prolapse	ORPHA:93932
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Optic nerve hypoplasia	ORPHA:572013
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Anemia, B lymphocytopenia, Noncompaction cardiomyopathy, Reticulocytopenia, Bone marrow hypocellu...	ORPHA:508542
Q Fever	Myocarditis, Anemia, Lymphadenopathy, Abnormal heart valve morphology, Granuloma, Pericarditis, P...	ORPHA:781
Histiocytosis-Lymphadenopathy Plus Syndrome	Lymphadenopathy, Pulmonic stenosis, Hepatosplenomegaly, Splenomegaly, Mitral valve prolapse, Card...	OMIM:602782
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Ventricu...	OMIM:243150
Melkersson-Rosenthal Syndrome	Lymphadenopathy, Facial palsy, Abnormal autonomic nervous system physiology	ORPHA:2483
Thymic Neuroendocrine Tumor	Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy...	ORPHA:97289
Epidermodysplasia Verruciformis, Susceptibility To, 5	Lymphopenia, T lymphocytopenia	OMIM:618309
Vici Syndrome	Atrial septal defect, Ocular albinism, Cardiomyopathy, T lymphocytopenia, Left ventricular hypert...	OMIM:242840
Brachytelephalangic Chondrodysplasia Punctata	Optic nerve hypoplasia, Atrial septal defect, Ventricular septal defect, Optic disc hypoplasia	ORPHA:79345
Poems Syndrome	Lymphadenopathy, Pericardial effusion, Polycythemia, Papilledema, Splenomegaly, Thrombocytosis	ORPHA:2905
Spastic Paraplegia 54, Autosomal Recessive	Optic nerve hypoplasia	OMIM:615033
Microphthalmia, Syndromic 5	Optic nerve hypoplasia, Microphthalmia, Retinal dystrophy, Anophthalmia	OMIM:610125
Acute Interstitial Pneumonia	Pericardial effusion, Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Microphthalmia, Perimembranous ventricular septal defect, Atrioventricular canal defect, Optic ne...	ORPHA:508498
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Chromosome 2P16.1-P15 Deletion Syndrome	Optic nerve hypoplasia	OMIM:612513
Waldenström Macroglobulinemia	Normocytic anemia, Lymphadenopathy, Retinal hemorrhage, Splenomegaly, Abnormal retinal vascular m...	ORPHA:33226
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Mediastinal lymphadenopathy, Hilar lymph node enlargement, Leukocytosis, Right atrial enlargement...	OMIM:620233
Septo-Optic Dysplasia Spectrum	Optic nerve hypoplasia, Septo-optic dysplasia	ORPHA:3157
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Congenital Syphilis	Optic atrophy, Myocarditis, Anemia, Lymphadenopathy, Chorioretinitis, Thrombocytopenia, Hepatospl...	ORPHA:499009
Acute Liver Failure	Gastrointestinal hemorrhage, Shock, Hypotension, Intracranial hemorrhage, Adrenal insufficiency	ORPHA:90062
Disabling Pansclerotic Morphea Of Childhood	Neutropenia, Lymphopenia	OMIM:620443
2P15P16.1 Microdeletion Syndrome	Optic atrophy, Optic nerve hypoplasia, Facial palsy	ORPHA:261349
Charcot-Marie-Tooth Disease Type 1F	Optic nerve hypoplasia, Absent brainstem auditory responses, Decreased nerve conduction velocity,...	ORPHA:101085
Aniridia 1	Aniridia, Optic nerve hypoplasia, Hypoplasia of the iris, Chorioretinal hypopigmentation, Hypopla...	OMIM:106210
Rabin-Pappas Syndrome	Retinal detachment, Optic nerve hypoplasia, Retinal telangiectasia	OMIM:620155
Selective Igm Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:331235
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Optic nerve hypoplasia, Abnormal autonomic nervous system physiology	ORPHA:300570
19P13.13 Microdeletion Syndrome	Optic atrophy, Optic nerve hypoplasia	ORPHA:357001
Bartter Syndrome, Type 1, Antenatal	Hyperactive renin-angiotensin system, Low-to-normal blood pressure, Increased circulating renin l...	OMIM:601678
Common Variable Immunodeficiency	Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia, Hemolytic anemia	ORPHA:1572
Holoprosencephaly 13, X-Linked	Optic nerve hypoplasia, Patent foramen ovale, Septo-optic dysplasia, Double outlet right ventricl...	OMIM:301043
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Optic nerve hypoplasia, Optic disc pallor, Retinal coloboma	OMIM:300749
Medullary Thyroid Carcinoma	Pheochromocytoma, Lymphadenopathy	ORPHA:1332
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Thrombocytopenia, Cervical lympha...	OMIM:617718
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Yellow Fever	Hematemesis, Reduced left ventricular ejection fraction, Bradycardia, Capillary leak, Supraventri...	ORPHA:99829
Brucellosis	Lung abscess, Myocarditis, Liver abscess, Anemia, Lymphadenopathy, Abnormal aortic valve morpholo...	ORPHA:1304
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Optic nerve hypoplasia, Patent foramen ovale, Hypertrophic cardiomyopathy, Pulmonic stenosis, Atr...	OMIM:617506
Hereditary Amyloidosis With Primary Renal Involvement	Lymphadenopathy, Abnormal lymph node morphology, Hepatosplenomegaly, Anemia	ORPHA:85450
Granulomatous Disease, Chronic, X-Linked	Liver abscess, Lymphadenopathy, Rectal abscess, Lymphadenitis, Granuloma, Splenomegaly, Impaired ...	OMIM:306400
Niemann-Pick Disease Type C	Cognitive impairment, Progressive neurologic deterioration, Dementia, Narcolepsy, Mental deterior...	ORPHA:646
Phace Syndrome	Microphthalmia, Retinal vascular malformation, Optic nerve hypoplasia, Abnormal heart morphology,...	ORPHA:42775
Pancreatic And Cerebellar Agenesis	Optic nerve hypoplasia, Secundum atrial septal defect, Anemia	OMIM:609069
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Microphthalmia, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hy...	OMIM:614643
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy, T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia	OMIM:607944
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Optic nerve hypoplasia	OMIM:617864
Bohring-Opitz Syndrome	Bradycardia	ORPHA:97297
Cherubism	Marcus Gunn pupil, Macular scar, Optic neuropathy, Submandibular lymph node enlargement	OMIM:118400
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Decreased proportion of naive T cells, T lymphocytopenia, Coombs-positive hemoly...	ORPHA:83471
Squamous Cell Carcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424019
Plague	Hematemesis, Arrhythmia, Hypotension, Tachycardia	ORPHA:707
Whim Syndrome	Lymphadenitis, Abnormal neutrophil morphology, Tetralogy of Fallot, Lymphopenia, Neutropenia	ORPHA:51636
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Hemolytic anemia, Neutropenia	OMIM:301110
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, B lymphocytopenia, Lymph...	OMIM:102700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic atrophy, Microphthalmia, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Ret...	OMIM:236670
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormal heart valve morphology, Optic nerve hypoplasia, Aortic valve stenosis, Pulmonic stenosis...	ORPHA:536471
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Iron deficiency anemia, Lymphadenopathy, Reduced proportion of CD4-n...	ORPHA:37042
Bartter Syndrome, Type 2, Antenatal	Increased circulating renin level, Hyperactive renin-angiotensin system, Hyperaldosteronism, Low-...	OMIM:241200
Farber Disease	Anemia, Lymphadenopathy, Macular degeneration, Thrombocytopenia, Cherry red spot of the macula, H...	ORPHA:333
Down Syndrome	Aganglionic megacolon, Atrioventricular canal defect, Leukemia, Abnormality of the lymphatic syst...	ORPHA:870
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Leukocytosis, Pericarditis, Abnormal myocardium morphology, Splenomegaly	ORPHA:32960
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Anemia, Lymphadenopathy, Accessory spleen, Splenomegaly, Ventricular septal defect, Macular atrop...	OMIM:619418
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Optic nerve hypoplasia, Abnormal optic nerve morphology, Abnormal heart morphology, Bicuspid aort...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Optic nerve hypoplasia, Abnormal optic nerve morphology, Abnormal heart morphology, Bicuspid aort...	ORPHA:352665
Immunodeficiency 31C	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Lymphade...	OMIM:614162
Lymphatic Filariasis	Lymphangiectasis, Lymphadenopathy, Abnormality of the lymphatic system, Lymphadenitis, Hypereosin...	ORPHA:2035
Marshall-Smith Syndrome	Optic nerve hypoplasia, Atrial septal defect, Ventricular septal defect, Dysplastic aortic valve	OMIM:602535
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Atrial septal defect, Atrioventricular canal defect, Thrombocytopeni...	OMIM:619573
Idiopathic Hypereosinophilic Syndrome	Anemia, Generalized lymphadenopathy, Myocardial eosinophilic infiltration, Myeloproliferative dis...	ORPHA:3260
3-Methylglutaconic Aciduria, Type Viii	Bradycardia	OMIM:617248
Hydranencephaly	Optic nerve hypoplasia, Chorioretinal atrophy, Dilatation of the ventricular cavity	ORPHA:2177
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Graft Versus Host Disease	Lymphadenopathy, Hepatosplenomegaly, Hemophagocytosis	ORPHA:39812
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary insufficiency, Tricuspid regurgitation, Pulmonary arterial hypertension, Bradycardia	OMIM:614437
Hennekam Syndrome	Lymphadenopathy, Pericardial effusion, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia, Ly...	ORPHA:2136
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, T lymphocytopenia,...	ORPHA:35078
Lymphangioleiomyomatosis	Optic atrophy, Retinal hamartoma, Lymphadenopathy, Chylopericardium, Abnormality of the lymphatic...	ORPHA:538
Severe Generalized Junctional Epidermolysis Bullosa	Dilated cardiomyopathy, Bradycardia	ORPHA:79404
Syndromic Diarrhea	Ventricular septal defect, Hypoplasia of the thymus, Increased mean platelet volume, Abnormal hea...	ORPHA:84064
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Optic nerve hypoplasia	OMIM:620029
Asparagine Synthetase Deficiency	Optic nerve hypoplasia	OMIM:615574
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Optic nerve hypoplasia, Leukocytosis, Retinal dystrophy	OMIM:619321
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Neutrophilia, Abscess, Splenomegaly	OMIM:612852
Blau Syndrome	Anemia, Lymphadenopathy, Abnormal cranial nerve morphology, Facial palsy, Abnormal optic nerve mo...	ORPHA:90340
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Leukocytosis, Neutrophilia, Splenomegaly, Autoimmune thrombocytopeni...	OMIM:620565
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Increased mean corpuscular volume, Bone marrow hypocellularity, Leukopen...	OMIM:127550
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic nerve hypoplasia, Bilateral microphthalmos, Attenuation of retinal blood vessels, Optic dis...	ORPHA:468631
Coccidioidomycosis	Mediastinal lymphadenopathy, Lymphadenopathy, Granuloma, Pericarditis, Abnormality of the spleen,...	ORPHA:228123
H Syndrome	Lymphadenopathy, Histiocytosis, Microcytic anemia, Hepatosplenomegaly	ORPHA:168569
Autosomal Recessive Malignant Osteopetrosis	Anemia, Lymphadenopathy, Optic nerve compression, Splenomegaly, Abnormal pulmonary valve morphology	ORPHA:667
Sweet Syndrome	Anemia, Acute myeloid leukemia, Chronic lymphatic leukemia, Sterile abscess, Leukocytosis, Neutro...	ORPHA:3243
Hyperimmunoglobulinemia D With Periodic Fever	Lymphadenopathy	ORPHA:343
Psoriasis 14, Pustular	Neutrophilia, Leukocytosis	OMIM:614204
Klatskin Tumor	Lymphadenopathy	ORPHA:99978
8Q24.3 Microdeletion Syndrome	Bilateral microphthalmos, Atrioventricular canal defect, Optic nerve hypoplasia, Truncus arterios...	ORPHA:508488
Craniosynostosis 4	Optic nerve hypoplasia	OMIM:600775
Pancreatoblastoma	Abnormal lymph node morphology	ORPHA:677
Sarcoidosis, Susceptibility To, 1	Mediastinal lymphadenopathy, Pancytopenia, Chorioretinitis, Optic neuropathy, Pericardial effusio...	OMIM:181000
Familial Mediterranean Fever	Pericarditis, Neutrophilia, Leukocytosis, Splenomegaly	OMIM:249100
Behçet Disease	Lymphadenopathy, Optic neuritis, Retinopathy, Pericarditis, Endocarditis, Splenomegaly, Abnormal ...	ORPHA:117
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibod...	ORPHA:391487
Proboscis Lateralis	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Chorioretinal coloboma, Optic disc coloboma...	ORPHA:141099
Congenital Fibrosis Of Extraocular Muscles	Optic nerve hypoplasia	ORPHA:45358
Familial Mediterranean Fever	Lymphadenopathy, Leukocytosis, Splenomegaly, Pericarditis	ORPHA:342
Cerebrooculonasal Syndrome	Optic nerve hypoplasia, Anophthalmia	OMIM:605627
Familial Pancreatic Carcinoma	Peritoneal abscess, Hepatosplenomegaly, Lymphadenopathy	ORPHA:1333
Primary Sjögren Syndrome	Normocytic anemia, Lymphadenopathy, Normochromic anemia, Abnormality of the peripheral nervous sy...	ORPHA:289390
Immunodeficiency 82 With Systemic Inflammation	Anemia, Lymphadenopathy, B lymphocytopenia, Decreased proportion of naive T cells, T lymphocytope...	OMIM:619381
Diaphragmatic Hernia 4, With Cardiovascular Defects	Optic nerve hypoplasia, Aortopulmonary window, Ventricular septal defect	OMIM:620025
Tetraamelia-Multiple Malformations Syndrome	Optic atrophy, Microphthalmia, Septo-optic dysplasia	ORPHA:3301
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Sinus bradycardia	OMIM:619482
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Multiple Myeloma	Lymphadenopathy, Anemia, Splenomegaly	ORPHA:29073
Kawasaki Disease	Myocarditis, Abnormal heart valve morphology, Leukocytosis, Double outlet right ventricle with su...	ORPHA:2331
Systemic Lupus Erythematosus	Lymphadenopathy, Retinopathy, Thrombocytopenia, Leukopenia, Hemolytic anemia	ORPHA:536
African Trypanosomiasis	Narcolepsy, Delirium	ORPHA:3385
Sarcoidosis	Anemia, Lymphadenopathy, Abnormal lymph node morphology, Facial palsy, Increased T cell count, Le...	ORPHA:797
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Narcolepsy	ORPHA:293987
Igg4-Related Ophthalmic Disease	Abnormality of infra-orbital nerve, Lymphadenopathy, Abnormal optic nerve morphology, Abnormal fi...	ORPHA:449563
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Lymphadenopathy, Hepatosplenomegaly, Anemia	ORPHA:85408
Rhombencephalosynapsis	Aganglionic megacolon, Septo-optic dysplasia	ORPHA:59315
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Decreased eosinophil count, Pancreatic endocrine tumor, Pheochrom...	ORPHA:99889
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Optic atrophy, Optic nerve hypoplasia, Atrial septal defect, Abnormal heart morphology	ORPHA:500150
Igg4-Related Dacryoadenitis And Sialadenitis	Lymphadenopathy, Thrombocytopenia, Optic nerve compression, Abnormal optic nerve morphology	ORPHA:79078
Baller-Gerold Syndrome	Optic atrophy, Optic nerve hypoplasia, Abnormal heart morphology	OMIM:218600
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Optic nerve hypoplasia	ORPHA:457284
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease...	OMIM:301000
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Optic nerve hypoplasia, Secundum atrial septal defect	OMIM:620455
Acromelic Frontonasal Dysostosis	Optic nerve hypoplasia, Remnants of the hyaloid vascular system	OMIM:603671
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Neuroendocrine neoplasm	ORPHA:100086
Igg4-Related Submandibular Gland Disease	Eosinophilia, Lymphadenopathy	ORPHA:449432
Igg4-Related Kidney Disease	Lymphadenitis, Eosinophilia, Lymphadenopathy, Pericarditis	ORPHA:449395
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Optic nerve hypoplasia, Ventricular septal defect	OMIM:620330
Proteasome-Associated Autoinflammatory Syndrome 1	Lymphadenopathy, Thrombocytopenia, Splenomegaly, Cardiomegaly, Microcytic anemia	OMIM:256040
Holoprosencephaly 9	Optic nerve hypoplasia, Microphthalmia, Anophthalmia	OMIM:610829
Chikungunya	Peripheral nerve compression, Cervical lymphadenopathy, Neuritis, 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
Holt-Oram Syndrome	Tricuspid regurgitation, Pulmonary arterial hypertension, Pulmonic stenosis, Left ventricular non...	OMIM:142900
Adenocarcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424016
Chilton-Okur-Chung Neurodevelopmental Syndrome	Patent foramen ovale, Septo-optic dysplasia	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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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 21.0 Data