Gene Summary

Name:
musashi RNA-binding protein 2
Synonyms:
Musashi2,  msi2h

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased startle reflex Msi2em1(IMPC)Mbp HOM Early adult 4.54×10-06
shortened ST segment Msi2em1(IMPC)Mbp HOM Early adult 1.70×10-05

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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.

Phenotype associated images not available

Human diseases caused by Msi2 mutations

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

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

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

The table below shows human diseases predicted to be associated to Msi2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Brugada Syndrome 7
Atrial flutter, ST segment elevation OMIM:613120
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Agammaglobulinemia, Lymphopenia OMIM:200900
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Brugada Syndrome 8
Ventricular tachycardia, ST segment elevation, Right bundle branch block OMIM:613123
Brugada Syndrome 5
Ventricular fibrillation, ST segment elevation, Bundle branch block OMIM:612838
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Reticular Dysgenesis
Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, Congenit... OMIM:267500
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Immunodeficiency 17
Failure to thrive, Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia OMIM:615607
Congenital Left Ventricular Aneurysm
Abnormal ST segment, Abnormal T-wave, Arrhythmia, Congestive heart failure ORPHA:1055
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia OMIM:615615
Cardiomyopathy, Familial Hypertrophic, 13
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, ST segment depression, Left anterior f... OMIM:613243
Immunodeficiency 24
Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... OMIM:615897
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased proportion of CD4-positive helper T cells, Decreased p... OMIM:312863
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Reduced natural killer cell activity, Defective T cell proliferation, Decreased... OMIM:614493
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Failure to thrive in infancy, Small for gestational age, Hypoplasia of the thymus, Reduced antige... OMIM:617241
Severe Combined Immunodeficiency, X-Linked
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Dec... OMIM:300400
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
B lymphocytopenia, Failure to thrive in infancy, Decreased circulating IgG level, Abnormally low ... OMIM:618987
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 84
B lymphocytopenia, Perianal abscess, Splenomegaly OMIM:619437
Omenn Syndrome
B lymphocytopenia, Hepatomegaly, Lymphadenopathy, Failure to thrive, Hypoplasia of the thymus, An... OMIM:603554
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Failure to thrive, Anemia, Splenomegaly, Increased circula... OMIM:615285
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia OMIM:183350
Long Qt Syndrome 10
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... OMIM:611819
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia OMIM:618310
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... OMIM:602086
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Combined Cellular And Humoral Immune Defects With Granulomas
B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia OMIM:233650
Cernunnos-Xlf Deficiency
B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Thrombocytopenia, T... ORPHA:169079
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Neutropenia, Lymphadenopathy, Increased circulating IgA level, Failure to thrive, Increased circu... ORPHA:169154
Immunodeficiency 76
B lymphocytopenia, Lymphadenopathy, Splenomegaly, Lymphopenia, T lymphocytopenia OMIM:619164
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... OMIM:611528
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, Ventricular arr... OMIM:602087
Long Qt Syndrome 11
Syncope, Prolonged QT interval OMIM:611820
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Lymphopenia OMIM:300988
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive
Hepatomegaly, Lymphadenopathy, Failure to thrive secondary to recurrent infections, Splenomegaly,... OMIM:608971
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Absent tonsils, Decreased circulating IgA level, Decreased circulating IgG level, Abnormality of ... OMIM:611926
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, B lymphocytopenia, Lack of T cell function, Failure to thrive, Increased circulat... ORPHA:277
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Failure to thrive, Neutropenia OMIM:616022
Myelolymphatic Insufficiency
Hyposegmentation of neutrophil nuclei, Leukopenia OMIM:310350
Agammaglobulinemia 8, Autosomal Dominant
B lymphocytopenia, Agammaglobulinemia OMIM:616941
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Lymphadenopathy, Weight loss, Anemia, Splenomegaly, Increase... ORPHA:100024
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Incessant Infant Ventricular Tachycardia
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... ORPHA:45453
Papular Xanthoma
Histiocytosis ORPHA:158008
Long Qt Syndrome 1
Syncope, Prolonged QT interval, Torsade de pointes, Prolonged QTc interval, Sudden cardiac death,... OMIM:192500
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Agammaglobulinemia, Neutropenia OMIM:613501
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
B lymphocytopenia, Failure to thrive, Failure to thrive secondary to recurrent infections, Panhyp... OMIM:601457
Immunodeficiency 14A, Autosomal Dominant
Increased proportion of transitional B cells, Decreased proportion of class-switched memory B cel... OMIM:615513
Brugada Syndrome 3
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, J wave, Sudden cardi... OMIM:611875
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Immunodeficiency 52
Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, Lymphadenopathy, D... OMIM:617514
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Monocytosis, Failure to thrive, Hypoplasia of the thymus, ... OMIM:612541
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:220400
Wolff-Parkinson-White Syndrome
Syncope, Ventricular preexcitation, Palpitations, Ventricular preexcitation with multiple accesso... OMIM:194200
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Immunodeficiency 42
Hypoplasia of the thymus OMIM:616622
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Sick Sinus Syndrome 1
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... OMIM:608567
Long Qt Syndrome 3
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:603830
Long Qt Syndrome 2
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613688
Long Qt Syndrome 6
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613693
Long Qt Syndrome 5
Syncope, Prolonged QT interval, Torsade de pointes, Sudden cardiac death, Ventricular fibrillation OMIM:613695
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Lymphadenopathy, Abscess, Splenomegaly, I... OMIM:150550
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... OMIM:614470
Long Qt Syndrome 14
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... OMIM:616247
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenopathy, Lymphadenitis, Failure to thrive, Absence of CD8-positive T cells, Abnormality o... ORPHA:911
Immunodeficiency, Common Variable, 13
Pancytopenia, B lymphocytopenia, Acute lymphoblastic leukemia, Decreased circulating antibody level OMIM:616873
Benign Cephalic Histiocytosis
Histiocytosis ORPHA:157997
Long Qt Syndrome 15
Prolonged QT interval, Prolonged QTc interval, Bradycardia, Cardiac arrest, Ventricular fibrillation OMIM:616249
Immunodeficiency, Common Variable, 1
B lymphocytopenia, Hepatomegaly, Decreased proportion of class-switched memory B cells, Neutropen... OMIM:607594
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Mediastinal lymphadenopathy, Defective T cell proliferation, Lymphadenopa... OMIM:618534
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... OMIM:604400
Immunodeficiency 75
Lymphadenopathy, Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Folli... OMIM:619126
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Ventricular tachycardia, Cardiomyopathy, Right bundle branch block, ST segment elev... ORPHA:263297
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Decreased CD69 upregulation upon TCR activation, Lymphadenopathy, De... OMIM:300853
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Lymphadenopathy, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocyto... OMIM:603552
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Reduced ejection fraction, Supraventricular tachycardia, Abnormal atriovent... ORPHA:45452
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Acute Erythroid Leukemia
Leukopenia, Anemia, Bone marrow hypocellularity, Erythroid hypoplasia, Pancytopenia ORPHA:318
Immunodeficiency 13
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased CD... OMIM:615518
Mirage Syndrome
Adrenal insufficiency, Leukopenia, Anemia, Decreased body weight, Lymphopenia, Hypergonadotropic ... OMIM:617053
Combined Immunodeficiency Due To Partial Rag1 Deficiency
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, T lymphocy... ORPHA:231154
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... ORPHA:98826
Immunodeficiency 14B, Autosomal Recessive
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Decreased circulating IgA level, De... OMIM:619281
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis OMIM:608898
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Nathalie Syndrome
Abnormal EKG OMIM:255990
Bone Marrow Failure Syndrome 2
Bone marrow hypocellularity, Anemia, Thrombocytopenia, Leukopenia OMIM:615715
Transcobalamin Deficiency
Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulat... ORPHA:859
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Long Qt Syndrome 12
Syncope, Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia, Neonatal death OMIM:257100
Short Qt Syndrome 1
Syncope, Shortened QT interval, Palpitations, Cardiac arrest, Sudden cardiac death, Paroxysmal at... OMIM:609620
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
B lymphocytopenia, Neutropenia, Leukopenia, Partial absence of specific antibody response to Haem... OMIM:618986
Cardiac Arrhythmia, Ankyrin-B-Related
Syncope, Sinus bradycardia, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Long Qt Syndrome 16
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block OMIM:618782
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Agammaglobulinemia 1, Autosomal Recessive
B lymphocytopenia, Agammaglobulinemia, Neutropenia, Failure to thrive, Decreased circulating anti... OMIM:601495
Immunodeficiency 21
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... OMIM:614172
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, Failure to thrive, Decreased circulating antibody level, Reduced natural kille... OMIM:618108
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Failure to thrive, Aplasia of the thymus, Reduced delayed hypersensit... OMIM:242700
Hemochromatosis, Type 3
Neutropenia, Amenorrhea, Hypogonadotropic hypogonadism, Anemia, Cirrhosis, Lymphopenia, Impotence OMIM:604250
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Decreased circulating total IgM OMIM:610798
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QT interval OMIM:612347
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... OMIM:619041
Long Qt Syndrome 9
Sinus bradycardia, Prolonged QT interval, Cardiac arrest, Ventricular arrhythmia OMIM:611818
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... OMIM:202700
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... OMIM:614021
Ataxia-Telangiectasia
Leukemia, Decreased circulating IgA level, Hypoplasia of the thymus, Defective B cell differentia... OMIM:208900
3-Methylglutaconic Aciduria, Type Vii
Neutropenia OMIM:616271
Immunodeficiency 72 With Autoinflammation
Increased B cell count, Increased proportion of memory T cells, Lymphadenopathy, Increased circul... OMIM:618982
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... OMIM:616452
Cardiogenic Shock
Right ventricular failure, Mitral regurgitation, Low pulse pressure, Elevated jugular venous pres... ORPHA:97292
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Premature ventricular contraction, Syncope, Shock, Prolonged QT interval, Polymorphic ventricular... OMIM:615441
Immunodeficiency 46
Neutropenia, Failure to thrive, Decreased circulating antibody level, Anemia, Intermittent thromb... OMIM:616740
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
B lymphocytopenia, Decreased specific antibody response to polysaccharide vaccine, Decreased spec... ORPHA:70593
Immunodeficiency 70
B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... OMIM:618969
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Lymphadenopathy, Reduced natural killer cell activity, Fulminant hepat... OMIM:308240
Reticular Dysgenesis
Leukopenia, Failure to thrive, Weight loss, Decreased circulating antibody level, Anemia, Aplasia... ORPHA:33355
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Hepatomegaly, Decreased circulating IgA level, Failure to thrive, Reduced red ... OMIM:102700
Atrial Fibrillation, Familial, 7
Palpitations, Paroxysmal atrial fibrillation, Prolonged QTc interval, Prolonged PR interval OMIM:612240
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Immunodeficiency 68
B lymphocytopenia, Lymphadenitis, Abscess, T lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Decreased circulating IgA level, Impaired memory B cell generation, Decreased circul... OMIM:606843
Tropical Endomyocardial Fibrosis
Abnormal EKG, Abnormal P wave, Reduced ejection fraction, Mitral regurgitation, Decreased QRS vol... ORPHA:75565
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Atrial Septal Defect, Ostium Secundum Type
Right ventricular failure, Syncope, Left-to-right shunt, Atrial fibrillation, Mitral regurgitatio... ORPHA:99103
Immunodeficiency 55
Lymphadenopathy, Neutropenia OMIM:617827
Romano-Ward Syndrome
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Torsade de pointes, Prolonge... ORPHA:101016
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Abnormal platelet function, Acute myelomonocytic leukemia, Decreased circulat... ORPHA:2585
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Thrombocytosis, Macrocytic anemia, Leukopenia, Bone marrow hypocellularity, Erythroid hypoplasia,... ORPHA:86841
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:613502
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Monocytosis, Refractory anemia, Bone marrow hypocellularity, Acute myeloid leukemia OMIM:616871
Folate Malabsorption, Hereditary
Neutropenia, Leukopenia, Failure to thrive, Thrombocytopenia, Folate-responsive megaloblastic anemia OMIM:229050
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... OMIM:159550
Combined Immunodeficiency Due To Dock8 Deficiency
B lymphocytopenia, T lymphocytopenia, Increased circulating IgE level ORPHA:217390
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the ovary, Abnormality of the lymph nodes, Abnormality ... ORPHA:543
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of class-switched memory B cells, Decreased proportion of marg... OMIM:619375
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Bone Marrow Failure Syndrome 6
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Persistence ... OMIM:618849
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased B cell count, Hepatomegaly, Decreased proportion of class-switched memory B cells, Medi... OMIM:615559
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Lymphadenitis, Decreased circulating IgA level, Decreased ci... ORPHA:331206
Short Qt Syndrome 2
Syncope, Shortened QT interval, Atrial fibrillation, Bradycardia, Sudden cardiac death, Ventricul... OMIM:609621
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Leishmaniasis
Hepatomegaly, Leukopenia, Lymphadenopathy, Weight loss, Anemia, Splenomegaly, Abnormal macrophage... ORPHA:507
Short Qt Syndrome 3
Palpitations, Shortened QT interval, Tachycardia OMIM:609622
Lymphoproliferative Syndrome 1
Hepatomegaly, Leukopenia, Lymphadenopathy, Decreased circulating IgG level, Decreased circulating... OMIM:613011
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Reduced ejection fraction, Ventricular escape rhythm... ORPHA:1344
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Impaired lymphocyte transformation with phytohemagglutinin, Decreased sp... OMIM:617006
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, B lymphocytopenia, Failure to thrive in infancy, Lymphadenopathy, Decreased cir... OMIM:606367
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, F... OMIM:601859
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Immunodeficiency, Common Variable, 11
Failure to thrive, Increased circulating IgE level, Decreased circulating IgG level, Decreased pr... OMIM:615767
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Hepatocellular carcinoma, Anemia, Splenomegaly, Acute ... ORPHA:158057
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis ORPHA:139436
Amed Syndrome, Digenic
Leukopenia, Failure to thrive, Anemia, Bone marrow hypocellularity, Acute myeloid leukemia, Adren... OMIM:619151
Brugada Syndrome 4
Syncope, Shortened QT interval, Atrial fibrillation OMIM:611876
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Lymphadenopathy, ... OMIM:619220
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Neutropenia, Failure to thrive, Anemia, Pancreatitis, Splenomegaly, Thrombocytopenia ORPHA:79312
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly OMIM:607616
Adult Idiopathic Neutropenia
Neutropenia, Monocytosis, Increased circulating IgM level, Lymphopenia, Monocytopenia ORPHA:2688
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Lymphadenopathy, Bone marrow hypocellul... ORPHA:101096
Immunodeficiency 85 And Autoimmunity
Failure to thrive in infancy, Decreased circulating IgA level, Decreased circulating IgG level, R... OMIM:619510
Bone Marrow Failure Syndrome 4
Leukopenia, Decreased circulating antibody level, Anemia, Bone marrow hypocellularity, Thrombocyt... OMIM:618116
Caspase 8 Deficiency
Decreased circulating IgA level, Lymphadenopathy, Decreased circulating IgG level, Failure to thr... OMIM:607271
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Syncope, Hypertension, ST segment depression, Prolonged QTc interval, Cerebr... ORPHA:90065
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hypoplasia of the thymus, Interface hepatitis, Autoimmune hemolytic anemia OMIM:243150
Wolfram Syndrome, Mitochondrial Form
Neutropenia, Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemia, Diabetes mellitus, T... OMIM:598500
Immunodeficiency 27A
Thrombocytosis, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Weight loss, Anemi... OMIM:209950
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia OMIM:193670
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Immunodeficiency 92
Leukocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Thrombocy... OMIM:619652
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Lymphadenopathy, Decreased circulating antibody level, Anemia, Abnormal natural killer cell physi... OMIM:613101
Selective Igm Deficiency
Thyroid carcinoma, Decreased specific antibody response to vaccination, Neutropenia in presence o... ORPHA:331235
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity OMIM:617243
Diamond-Blackfan Anemia 4
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia OMIM:612527
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... OMIM:618944
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... OMIM:619374
Brugada Syndrome 2
Syncope, Right bundle branch block, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Palpitations, Restrictive cardiomyopathy, Cardiac arrest, Congestive... OMIM:608751
Diamond-Blackfan Anemia 8
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612563
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, De... OMIM:614700
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Neutropenia, Lack of T cell function, Neutropenia in presence of anti-neu... ORPHA:572
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... OMIM:608758
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Griscelli Syndrome Type 2
Hepatomegaly, Neutropenia, Lymphadenopathy, Splenomegaly, Pancytopenia, Hemophagocytosis, Jaundice ORPHA:79477
Spinocerebellar Ataxia, Autosomal Recessive 23
Neutropenia OMIM:616949
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive ... ORPHA:35078
Immunodeficiency 22
Failure to thrive, Decreased proportion of CD4-positive helper T cells OMIM:615758
Syndromic Diarrhea
Thrombocytosis, Hepatomegaly, Increased mean platelet volume, Hepatic fibrosis, Small for gestati... ORPHA:84064
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Absent tonsils, Hepatomegaly, Decreased proportion of naive T cells, Lymph node hypoplasia, Decre... ORPHA:276
Gracile Bone Dysplasia
Failure to thrive, Hypoplastic spleen, Asplenia OMIM:602361
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Decreased basophi... OMIM:618394
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Neutropenia, Chronic hepatitis, Sclerosing cholangitis, Decreased circulating IgA l... OMIM:308230
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Lymphadenopathy, Weight loss, Anemia, Abno... ORPHA:98850
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Obesity Due To Congenital Leptin Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:66628
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Neutropenia, Anemia, Congenital thrombocytopenia, Thrombocytopenia, Hydrocele testis OMIM:616738
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Specific Granule Deficiency 2
Neutropenia, Absent neutrophil specific granules, Failure to thrive, Anemia, Thrombocytopenia OMIM:617475
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM ORPHA:2643
Atrial Tachyarrhythmia With Short Pr Interval
Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Sho... OMIM:108950
Cyclic Neutropenia
Peritonitis, Lymphadenopathy, Perianal abscess, Lymphopenia, Cyclic neutropenia, Recurrent tonsil... ORPHA:2686
Barth Syndrome
Failure to thrive, Granulocytopenia, Neutropenia OMIM:302060
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Reduced isohemagglutinin level, Decreased ... OMIM:613493
Obesity Due To Leptin Receptor Gene Deficiency
Insulin-resistant diabetes mellitus, Pituitary hypothyroidism, Hypoplasia of the ovary, Absence o... ORPHA:179494
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Pearson Syndrome
Hepatomegaly, Hypoparathyroidism, Adrenal insufficiency, Neutropenia, Small for gestational age, ... ORPHA:699
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hepatomegaly, Microcytic anemia, Neutropenia, Hypothyroidism OMIM:251900
Babesiosis
Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Jaundice ORPHA:108
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Developmental And Epileptic Encephalopathy 66
Anemia, Cryptorchidism, Neutropenia OMIM:618067
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating total IgA, Failure to thrive secondary to recurrent infections, Decreased c... ORPHA:169160
Wiskott-Aldrich Syndrome
Neutropenia, Abnormal platelet function, Acute leukemia, Hypoplasia of the thymus, Chronic leukem... ORPHA:906
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Coombs-positive hemolytic anemia, Lymphadenopathy, Failure to thrive, Hepatitis, Ane... OMIM:304790
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia OMIM:614171
Diamond-Blackfan Anemia 11
Anemia, Neutropenia, Bone marrow hypocellularity, Anemia of inadequate production OMIM:614900
Thymic Aplasia
Decreased proportion of naive T cells, Coombs-positive hemolytic anemia, Lymphadenopathy, Failure... ORPHA:83471
Slc35A1-Cdg
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Thrombocytopenia ORPHA:289916
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Hepatitis, Decreased circulating antibody level, Splenomegaly, Pancytopenia, Aplast... OMIM:300635
3-Methylglutaconic Aciduria, Type Viii
Neutropenia OMIM:617248
Diamond-Blackfan Anemia 5
Macrocytic anemia, Reticulocytopenia, Leukopenia, Erythroid hypoplasia OMIM:612528
Felty Syndrome
Hepatomegaly, Neutropenia, Lymphadenopathy, Weight loss, Abnormal lymphocyte morphology, Anemia, ... ORPHA:47612
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Neutropenia, Failure to thrive, Anemia, Bone marrow hypocellularity, Large for gestational age, T... OMIM:614520
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Asplenia OMIM:618948
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Neutropenia, Decreased circulating total IgM OMIM:251190
Poikiloderma With Neutropenia
Neutropenia, Splenomegaly OMIM:604173
Idiopathic Aplastic Anemia
Neutropenia, Anemia, Bone marrow hypocellularity, Reticulocytopenia, Pancytopenia, Thrombocytopenia ORPHA:88
Macrophage Activation Syndrome
Hepatomegaly, Neutropenia, Lymphadenopathy, Hepatitis, Anemia, Splenomegaly, Thrombocytopenia, He... ORPHA:158061
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Cutaneous anergy, ... OMIM:600802
X-Linked Lymphoproliferative Disease
Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Absent natural killer cells,... ORPHA:2442
Isovaleric Acidemia
Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Leukopenia OMIM:243500
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Leukopenia, Lymphadenopathy, Weight loss, Anemia, Metrorrhagia, Pancyt... ORPHA:520
Heme Oxygenase 1 Deficiency
Thrombocytosis, Hepatomegaly, Asplenia, Coombs-positive hemolytic anemia, Lymphadenopathy, Cervic... OMIM:614034
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Leukopenia, Aplasia/Hypoplasia of the spleen, Hepatitis, Decreased circulating... ORPHA:227990
Recessive Mitochondrial Ataxia Syndrome
ST segment elevation ORPHA:94125
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Pelger-Huet Anomaly
Neutropenia, Failure to thrive, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocy... OMIM:169400
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Failure to thrive, Hypoplasia of the thymus, Intrahepatic biliary dysgenesis, Crypt... OMIM:214110
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Absent tonsils, Lymph node hypoplasia, Failure to thrive, Aplasia of the thymus, Panhypogammaglob... OMIM:602450
Autoimmune Polyendocrinopathy Type 3
Autoimmune hypoparathyroidism, Macrocytic anemia, Leukopenia, Aplasia/Hypoplasia of the spleen, H... ORPHA:227982
X-Linked Agammaglobulinemia
Agammaglobulinemia, Neutropenia, Recurrent cutaneous abscess formation, Failure to thrive, Abnorm... ORPHA:47
Stormorken Syndrome
Thrombocytopenia, Howell-Jolly bodies, Anemia, Asplenia OMIM:185070
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia OMIM:231095
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Decreased circulating antibody ... OMIM:616084
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased serum insulin-like growth factor 1, Abnormal size of pituitary gland, Failure to thrive... ORPHA:293978
Autosomal Dominant Severe Congenital Neutropenia
Acute lymphoblastic leukemia, Neutropenia, Monocytosis, Leukemia, Acute myeloid leukemia, Lymphop... ORPHA:486
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Exocrine pancreatic insufficiency, Neutropenia OMIM:618752
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Leukopenia, Bone marrow hypocellularity, Anemia, Lymphopenia, Ret... ORPHA:508542
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Neutropenia OMIM:617056
Sea-Blue Histiocytosis
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Reduced ejection fraction, Angina pectoris, Restrictive cardiomyopat... ORPHA:85451
Transcobalamin Ii Deficiency
Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Failure to thrive, Decreased cir... OMIM:275350
Lichtenstein Syndrome
Decreased circulating IgA level, Neutropenia OMIM:246550
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Portal hypertension, Hepatomegaly, Failure to thrive in infancy, Inappropriate antidiuretic hormo... ORPHA:79124
Scorpion Envenomation
Myocarditis, Prominent U wave, Hypertension, Premature ventricular contraction, Cardiac conductio... ORPHA:466677
Immunodeficiency 25
Complete or near-complete absence of specific antibody response to tetanus vaccine, Increased cir... OMIM:610163
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Abnormal T cell subset distribution, Pancytopeni... ORPHA:158048
Neonatal Lupus Erythematosus
Hemolytic anemia, Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Abnormality of the liver, Panc... ORPHA:398124
Lymphoproliferative Syndrome 2
Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Hepatosplenome... OMIM:615122
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Decreased circulating IgG level, Decreased circulating antibody level, Increased ci... ORPHA:508533
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Acitretin/Etretinate Embryopathy
Hypoplasia of the thymus ORPHA:40366
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Neutropenia OMIM:600351
Griscelli Syndrome
Hepatomegaly, Leukopenia, Lymphadenopathy, Hepatitis, Bone marrow hypocellularity, Decreased circ... ORPHA:381
Letterer-Siwe Disease
Neutropenia, Anemia, Hepatosplenomegaly, Thrombocytopenia, Jaundice OMIM:246400
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia OMIM:603585
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Neutropenia, Abnormal proportion of CD8-positive T cells, Leukopenia, Neu... ORPHA:443811
Chediak-Higashi Syndrome
Hepatomegaly, Neutropenia, Leukopenia, Lymphadenopathy, Abnormal dense granules, Giant neutrophil... OMIM:214500
Hypoglossia With Situs Inversus
Polysplenia, Asplenia OMIM:612776
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Hepatomegaly, Leukopenia, Anemia, Pancreatitis, Thrombocytopenia ORPHA:27
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Adrenal insufficiency, Increased hepatic echogenicity, Hepatic fibrosis, Leukopenia... OMIM:278000
Chronic Beryllium Disease
Weight loss, Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells ORPHA:133
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Neutropenia, Abnormal immunoglobulin level, Anemia, Elevated circulat... OMIM:242900
Systemic Lupus Erythematosus
Thrombocytopenia, Hemolytic anemia, Leukopenia OMIM:152700
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Lymph node hypoplasia, Impaired T cell func... OMIM:613179
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Anemia, Thrombocytopenia, Cryptorchidism, Neutropenia OMIM:614857
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Prolonged QT interval, Mitral regurgitation OMIM:618052
Dyskeratosis Congenita, Autosomal Dominant 2
Leukopenia, Failure to thrive, Bone marrow hypocellularity, Pancytopenia, Thrombocytopenia, Aplas... OMIM:613989
Retinal Venous Beading
Neutropenia OMIM:180080
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus OMIM:617022
Cohen Syndrome
Neutropenia, Leukopenia, Small for gestational age, Delayed puberty, Decreased response to growth... OMIM:216550
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased specific antibody response to va... OMIM:617765
Boutonneuse Fever
Leukopenia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgM level, Ce... ORPHA:83313
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Hepatoportal Sclerosis
Leukopenia, Hepatocellular carcinoma, Anemia, Nodular regenerative hyperplasia of liver, Splenome... ORPHA:64743
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Hemophagocytosis, Anemia, Splenomegaly OMIM:618398
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Neutropenia, Failure to thrive, Anemia, Pancytopenia, Thrombocytopenia OMIM:251110
Bare Lymphocyte Syndrome, Type Ii
Cholangitis, Agammaglobulinemia, Neutropenia, Failure to thrive, Cutaneous anergy, Panhypogammagl... OMIM:209920
Autoimmune Lymphoproliferative Syndrome
Thyroid carcinoma, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cel... ORPHA:3261
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Failure to thrive in infancy, Increased proportion of CD4-positive T cells, Lymphad... OMIM:617099
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Neutropenia, Enlarged platelet dense granules, Reduced natural killer cell activity... OMIM:608233
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Neutropenia, Lymphadenopathy, Reduced natural killer cell activity, Decreased circu... ORPHA:540
Congenital Enterovirus Infection
Leukocytosis, Neutropenia, Leukopenia, Hepatitis, Anemia, Abnormal macrophage morphology, Cholest... ORPHA:292
Erythrocytosis, Familial, 8
Normocytic anemia, Polycythemia, Normochromic anemia, Cholelithiasis, Splenomegaly, Nonspherocyti... OMIM:222800
Dyskeratosis Congenita, Autosomal Recessive 5
Decreased circulating antibody level, Bone marrow hypocellularity, Leukopenia OMIM:615190
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Leukopenia, Failure to thrive, Pancreatitis, Thrombocytopenia OMIM:251000
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Decreased proportion of CD3-positive T cells, Autoimmune thrombocytop... ORPHA:760
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Decreased circulating IgA level, Failure to thrive, Reduced natural killer cell count, Increased ... OMIM:242860
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Autosomal Agammaglobulinemia
Failure to thrive, Agammaglobulinemia, Hepatitis, Neutropenia ORPHA:33110
Immunodeficiency 67
Increased circulating IgE level, Transient neutropenia, Liver abscess OMIM:607676
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Neutropenia, Failure to thrive, Anemia, Pancytopenia, Thrombocytopenia OMIM:251100
Propionic Acidemia
Hepatomegaly, Neutropenia, Failure to thrive, Anemia, Pancreatitis, Pancytopenia, Thrombocytopenia OMIM:606054
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Failure to thrive, Decreased circulating IgG level, Neutropenia OMIM:608809
Microphthalmia, Syndromic 9
Cryptorchidism, Hypoplastic spleen, Multilobulated spleen OMIM:601186
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Leukopenia, Increased circulating IgA level, Failure to thrive, Paratracheal lymp... OMIM:615934
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Hepatosplenomegaly, Hemophagocytosis ORPHA:86884
Fanconi Anemia, Complementation Group A
Neutropenia, Small for gestational age, Leukemia, Anemia, Male infertility, Reticulocytopenia, Hy... OMIM:227650
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Hypoplasia of the thymus, Hepatitis, Abnormality of the ductus choledochus, R... ORPHA:436252
Cartilage-Hair Hypoplasia
Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutropenia, Conge... OMIM:250250
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Neutropenia, Small for gestational age, Impaired T cel... ORPHA:1830
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Neutropenia, Failure to thrive, Megaloblastic anemia, Pancytopenia, Thrombocytopenia OMIM:277380
Methylcobalamin Deficiency Type Cble
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume, Failure to thrive, Abnormality... ORPHA:2169
Shwachman-Diamond Syndrome 1
Hepatomegaly, Neutropenia, Small for gestational age, Failure to thrive, Anemia, Persistence of h... OMIM:260400
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Failure to thrive, Anemia, Diabetes mellitus, Thrombocytopenia OMIM:613845
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Hepatic fibrosis, Asplenia, Stillbirth, Cholestasis OMIM:615415
Primary Intestinal Lymphangiectasia
Abnormal lymphatic vessel morphology, Decreased circulating IgA level, Decreased circulating IgG ... ORPHA:90362
Isolated Anencephaly
Adrenal hypoplasia, Maternal diabetes, Thymus hyperplasia ORPHA:563609
Coronary Arterial Fistula
Syncope, Systolic heart murmur, Continuous heart murmur, Palpitations, Elevated jugular venous pr... ORPHA:2041
Dehydrated Hereditary Stomatocytosis
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... ORPHA:3202
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgA level, Failure to thrive, Decreased circulating IgG level, Decreased pr... ORPHA:275
Adenosine Triphosphate, Elevated, Of Erythrocytes
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration OMIM:102900
Refractory Celiac Disease
Macrocytic anemia, Normocytic anemia, Iron deficiency anemia, Weight loss, Increased proportion o... ORPHA:398063
Fanconi Anemia, Complementation Group E
Neutropenia, Small for gestational age, Leukemia, Anemia, Reticulocytopenia, Hypergonadotropic hy... OMIM:600901
Immunodeficiency 23
Neutropenia, Failure to thrive, Abscess, Increased circulating IgG level, Increased circulating I... OMIM:615816
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral hepatitis, Absent circulating B cells, Prostatitis, Panhypogammaglobulinemia, Decreas... OMIM:307200
Fanconi Anemia, Complementation Group C
Neutropenia, Small for gestational age, Leukemia, Bone marrow hypocellularity, Anemia, Reticulocy... OMIM:227645
Wolcott-Rallison Syndrome
Hepatomegaly, Central hypothyroidism, Neutropenia, Iron deficiency anemia, Abnormality of the liv... ORPHA:1667
Necrotizing Enterocolitis
Leukocytosis, Neutropenia, Small for gestational age, Peritonitis, Thrombocytopenia ORPHA:391673
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Leukopenia, Lymphadenopathy, Failure to thrive, Anemia, Splenomegaly, Thrombocytope... OMIM:267700
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Leukopenia, Lymphadenopathy, Failure to thrive, Reduced natural killer cell activit... OMIM:603553
Autoimmune Polyendocrine Syndrome, Type Ii
Type II diabetes mellitus, Asplenia, Iron deficiency anemia, Chronic hepatitis, Hepatitis, Primar... OMIM:269200
Erythrocytosis, Familial, 4
Polycythemia, Elevated circulating erythropoietin concentration, Increased hematocrit, Increased ... OMIM:611783
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Bone marrow hypocellularity, Splenomegaly, Macrove... OMIM:617303
Nijmegen Breakage Syndrome
B lymphocytopenia, Dysgammaglobulinemia, Premature ovarian insufficiency, Thrombocytopenia, T lym... OMIM:251260
Shwachman-Diamond Syndrome 2
Hepatomegaly, Normocytic anemia, Neutropenia, Failure to thrive, Hyperechogenic pancreas, Thrombo... OMIM:617941
Shwachman-Diamond Syndrome
Neutropenia, Pancreatic hypoplasia, Leukemia, Diabetes mellitus, Pancytopenia, Bone marrow hypoce... ORPHA:811
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Hepatitis, Abnormality o... ORPHA:391487
Fanconi Anemia, Complementation Group I
Neutropenia, Bone marrow hypocellularity, Decreased body weight, Hypothyroidism, Decreased respon... OMIM:609053
Gaucher Disease Type 1
Hepatomegaly, Leukopenia, Biliary tract obstruction, Anemia, Splenomegaly, Cirrhosis, Hyperspleni... ORPHA:77259
Ebola Hemorrhagic Fever
Leukopenia, Hepatitis, Increased circulating antibody level, Acute pancreatitis, Lymphopenia, Thr... ORPHA:319218
Gitelman Syndrome
Prominent U wave, Syncope, Abnormal T-wave, Prolonged QT interval, Palpitations, ST segment depre... ORPHA:358
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... OMIM:608203
Hermansky-Pudlak Syndrome 10
Hepatomegaly, Neutropenia, Splenomegaly OMIM:617050
Kasabach-Merritt Syndrome
Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Abnormal lymphatic vessel morphology,... ORPHA:2330
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Prolonged QTc interval, Arrhythmia, Ventricular fibrillation ORPHA:90647
Onychotrichodysplasia And Neutropenia
Chronic neutropenia, Lymphocytosis, Neutropenia OMIM:258360
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Hypertension, Myocarditis, Abnormal T-wave, Re... ORPHA:563
Sepsis In Premature Infants
Leukocytosis, Hepatomegaly, Neutropenia, Small for gestational age, Anemia, Splenomegaly, Thrombo... ORPHA:90051
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Chronic active hepatitis, Hypoparathyroidism, Adrenal insufficiency, Decreased circulating aldost... OMIM:240300
Atrial Standstill 2
Atrial standstill, Palpitations, Cardiomyopathy, Bradycardia, Atrial cardiomyopathy, Absent P wav... OMIM:615745
Methylmalonic Acidemia With Homocystinuria Type Cblf
Failure to thrive, Megaloblastic anemia, Neutropenia, Reduced number of intrahepatic bile ducts ORPHA:79284
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus ORPHA:3004
Naxos Disease
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... OMIM:601214
3-Methylglutaconic Aciduria Type 7
Neutropenia, Bone marrow hypocellularity, Hepatic steatosis, Hypothyroidism, Infection associated... ORPHA:445038
Loeffler Endocarditis
Pericarditis, Mitral regurgitation, Palpitations, Aortic regurgitation, Restrictive cardiomyopath... ORPHA:75566
Atrial Septal Defect, Ostium Primum Type
Syncope, Abnormal P wave, Atrial fibrillation, Mitral regurgitation, Systolic heart murmur, Palpi... ORPHA:99106
Fusariosis
Brain abscess, Abnormality of the spleen, Neutropenia, Lung abscess, Peritonitis, Abnormality of ... ORPHA:228119
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Complete Atrioventricular Septal Defect
Right ventricular failure, Left-to-right shunt, Abnormal P wave, Systolic heart murmur, Atriovent... ORPHA:1329
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Abnormal EKG, Arrhythmia OMIM:310200
Spondyloenchondrodysplasia With Immune Dysregulation
Neutropenia, Lymphadenopathy, Autoimmune thrombocytopenia, Lymphopenia, Hypothyroidism, T lymphoc... OMIM:607944
Dyskeratosis Congenita, Autosomal Dominant 3
Leukopenia, Bone marrow hypocellularity, Pancytopenia, Thrombocytopenia, Cryptorchidism, Aplastic... OMIM:613990
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia, Neutropenia, Neutropenia in presence of anti-neutropil an... ORPHA:37042
Exercise-Induced Malignant Hyperthermia
Abnormal T-wave, Prolonged QT interval, ST segment depression, Abnormal pulse pressure, Hypotensi... ORPHA:466650
Combined Immunodeficiency With Faciooculoskeletal Anomalies
B lymphocytopenia, Decreased circulating total IgA, Decreased specific antibody response to vacci... ORPHA:221139
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Bradycardia, M... ORPHA:330001
Whim Syndrome
Neutropenia, Lymphadenitis, Decreased circulating antibody level, Parotitis, Lymphopenia, Abnorma... ORPHA:51636
Congenital Aortic Valve Stenosis
Abnormal T-wave, Reduced ejection fraction, Angina pectoris, Increased QRS voltage, Abnormal puls... ORPHA:3093
Immunodeficiency 47
Hepatomegaly, Normocytic anemia, Hepatic fibrosis, Leukopenia, Decreased circulating total IgA, D... OMIM:300972
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Pericardial Effusion, Chronic
Polycythemia OMIM:260900
Kikuchi-Fujimoto Disease
Hepatomegaly, Neutropenia, Leukopenia, Lymphadenopathy, Weight loss, Anemia, Abnormality of the l... ORPHA:50918
Vici Syndrome
Failure to thrive, Cutaneous anergy, Decreased circulating IgG level, Decreased proportion of CD4... OMIM:242840
Erythrocytosis, Familial, 3
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin OMIM:609820
Fanconi Anemia, Complementation Group F
Leukopenia, Failure to thrive, Decreased response to growth hormone stimulation test, Anemia, Bon... OMIM:603467
Treacher-Collins Syndrome
Thyroid hypoplasia, Failure to thrive, Hypoplasia of the thymus, Abnormality of the adrenal gland... ORPHA:861
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Failure to thrive, Neutropenia, Hypothyroidism OMIM:618005
Primary Ciliary Dyskinesia
Asplenia, Abnormal sperm motility, Female infertility, Male infertility, Polysplenia ORPHA:244
Aspergillosis
Increased circulating IgE level, Eosinophilia, Hepatitis, Neutropenia ORPHA:1163
Fanconi Anemia, Complementation Group D2
Neutropenia, Small for gestational age, Annular pancreas, Leukemia, Bone marrow hypocellularity, ... OMIM:227646
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG ORPHA:1177
Diamond-Blackfan Anemia 7
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume OMIM:612562
Chédiak-Higashi Syndrome
Abnormal natural killer cell morphology, Neutropenia, Thrombocytopenia, Abnormal platelet functio... ORPHA:167
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Impaired T cell function, Failure to thrive, Obesity, Hypoplasia of the thymu... ORPHA:567
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Failure to thrive, Neutropenia, Small for gestational age OMIM:615471
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Bloom Syndrome
Oligospermia, Acute lymphoblastic leukemia, Abnormal proportion of CD8-positive T cells, Small fo... ORPHA:125
Immunodeficiency 82 With Systemic Inflammation
B lymphocytopenia, Decreased proportion of naive T cells, Decreased circulating total IgA, Decrea... OMIM:619381
Eec Syndrome
Hypoplasia of the thymus, Decreased response to growth hormone stimulation test, Anterior hypopit... ORPHA:1896
Blackfan-Diamond Anemia
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... ORPHA:124
Lysinuric Protein Intolerance
Hepatomegaly, Leukopenia, Failure to thrive, Anemia, Pancreatitis, Truncal obesity, Splenomegaly,... OMIM:222700
Ciliary Dyskinesia, Primary, 1
Male infertility, Asplenia OMIM:244400
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Syncope, Prominent U wave, Bidirectional ventricular ectopy, Premature ve... ORPHA:37553
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct proliferation, Hepatic cyst... OMIM:208540
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Failure to thrive, Thrombocytopenia, Megaloblastic anemia, Neutropenia OMIM:277400
Poems Syndrome
Thrombocytosis, Polycythemia, Lymphadenopathy, Weight loss, Abnormality of the endocrine system, ... ORPHA:2905
Cardiofacioneurodevelopmental Syndrome
Cryptorchidism, Abdominal situs inversus, Asplenia OMIM:619123
Sweeney-Cox Syndrome
Bilateral cryptorchidism, Asplenia OMIM:617746
Proteus-Like Syndrome
Polycystic ovaries, Thymus hyperplasia, Abnormality of the parathyroid gland, Splenomegaly ORPHA:2969
Caroli Syndrome
Abnormality of the intrahepatic bile duct, Leukocytosis, Cholangitis, Hepatomegaly, Cholangiocarc... ORPHA:480520
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Neutropenia, Anemia, Acute myeloid leukemia, Decreased body weight, Decreased testicular size OMIM:601347
Tempi Syndrome
Polycythemia, Increased hematocrit, Increased circulating IgG level ORPHA:284227
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Rectal absc... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Rectal absc... OMIM:233710
Alg12-Cdg
B lymphocytopenia, Decreased serum insulin-like growth factor 1, Partial absence of specific anti... ORPHA:79324
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
B lymphocytopenia, Hepatomegaly, Pancreatic hypoplasia, Failure to thrive, Cholelithiasis, Biliar... ORPHA:83617
Monosomy 22
Aplasia of the thymus, Hepatosplenomegaly, Hypochromic microcytic anemia ORPHA:96123
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Rectal absc... OMIM:306400
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative burst, Rectal absc... OMIM:233690
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Microgastria-Limb Reduction Defects Association
Asplenia, Failure to thrive, Splenogonadal fusion, Absent gallbladder, Cryptorchidism, Biliary tr... OMIM:156810
Microsporidiosis
Brain abscess, Abnormality of the spleen, Cholangitis, Adrenocortical abnormality, Cachexia, Peri... ORPHA:2552
Cirrhotic Cardiomyopathy
Global systolic dysfunction, Reduced ejection fraction, Ventricular arrhythmia, Prolonged QT inte... ORPHA:57777
Toxic Epidermal Necrolysis
Neutropenia, Weight loss, Anemia, Pancreatitis, Thrombocytopenia ORPHA:537
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Arrhythmia ORPHA:2151
Glycogen Storage Disease Ib
Hepatomegaly, Neutropenia, Hepatocellular carcinoma, Pancreatitis, Delayed puberty OMIM:232220
Rothmund-Thomson Syndrome
Infertility, Neutropenia, Small for gestational age, Leukemia, Anemia, Aplastic anemia ORPHA:2909
Right Atrial Isomerism
Abdominal situs ambiguus, Polysplenia, Asplenia OMIM:208530
Rothmund-Thomson Syndrome Type 1
Neutropenia, Small for gestational age, Leukemia, Anemia, Hypogonadism, Premature ovarian insuffi... ORPHA:221008
Friedreich Ataxia
Hypertrophic cardiomyopathy, Abnormal EKG, Abnormal echocardiogram, Congestive heart failure OMIM:229300
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Stiff-Person Syndrome
Exaggerated startle response, Hypertension, Opisthotonus, Tachycardia OMIM:184850
Hermansky-Pudlak Syndrome
Weight loss, Neutropenia, Menometrorrhagia ORPHA:79430
Cohen Syndrome
Failure to thrive in infancy, Neutropenia, Obesity, Cryptorchidism, Delayed puberty ORPHA:193
Diamond-Blackfan Anemia 1
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Failure to thrive, Cong... OMIM:105650
Feingold Syndrome 1
Accessory spleen, Polysplenia, Asplenia, Annular pancreas OMIM:164280
Heterotaxy, Visceral, 1, X-Linked
Abdominal situs inversus, Asplenia, Failure to thrive, Biliary atresia, Polysplenia OMIM:306955
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Hepatomegaly, Menorrhagia, Hepatocellular carcinoma, Increased hepatic glyco... ORPHA:79259
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Asplenia, Annular pancreas ORPHA:210122
Al Amyloidosis
Hypertrophic cardiomyopathy, Abnormal P wave, Increased circulating troponin T concentration, Gas... ORPHA:85443
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypertension, Intracranial hemorrhage, Abnormal T-wave, Palpitations, Epistaxis ORPHA:231625
Primary Sjögren Syndrome
Chronic active hepatitis, Normocytic anemia, Leukopenia, Lymphadenopathy, Chronic hepatitis, Norm... ORPHA:289390
Mosaic Trisomy 9
Abnormal liver lobulation, Cryptorchidism, Asplenia ORPHA:99776
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Abnormality of blood circulation, Tachycardia, Congestive heart failure, Ca... ORPHA:860
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia, Congenital hypothyroidism OMIM:271510
Truncus Arteriosus
Adrenocortical abnormality, Hypoplasia of the thymus ORPHA:3384
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Neutropenia, Failure to thrive, Megaloblastic anemia, Thrombocytopenia, Jaundice ORPHA:79282
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Rothmund-Thomson Syndrome Type 2
Neutropenia, Small for gestational age, Leukemia, Anemia, Cryptorchidism, Aplastic anemia ORPHA:221016
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Exaggerated startle response OMIM:618367
Cartilage-Hair Hypoplasia
Hepatomegaly, Neutropenia, Failure to thrive, Decreased circulating antibody level, Anemia, Abnor... ORPHA:175
Leigh Syndrome
Anemia, Neutropenia, Failure to thrive ORPHA:506
Trichothiodystrophy
Neutropenia, Anemia, Panhypogammaglobulinemia, Increased mean corpuscular hemoglobin concentratio... ORPHA:33364
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response OMIM:609541
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Reduced ejection fraction, Right bundle branch block ORPHA:268
Meckel Syndrome, Type 1
Malformation of the hepatic ductal plate, Asplenia, Bile duct proliferation, Splenomegaly, Access... OMIM:249000
Meckel Syndrome
Pancreatic cysts, Asplenia, Congenital hepatic fibrosis, Accessory spleen, Cryptorchidism, Cystic... ORPHA:564
Rett Syndrome
Prolonged QTc interval, Abnormal T-wave OMIM:312750
Spastic Tetraplegia And Axial Hypotonia, Progressive
Exaggerated startle response OMIM:618598
Dopamine Beta-Hydroxylase Deficiency
Orthostatic hypotension, Syncope, Orthostatic syncope, Abnormal EKG ORPHA:230
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Abnormal EKG, Prolonged QT interval, Arrhythmia