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Gene: Tagln2 MGI:1312985

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Gene Summary

Name:
transgelin 2
Synonyms:
2700094C18Rik,  Sm22B

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
increased vertical activity Tagln2em1(IMPC)Tcp HOM Early adult 6.67×10-05
decreased lymphocyte cell number Tagln2em1(IMPC)Tcp HOM Early adult 1.37×10-07
increased neutrophil cell number Tagln2em1(IMPC)Tcp HOM Early adult 1.28×10-08
increased red blood cell distribution width Tagln2em1(IMPC)Tcp HOM Early adult 1.40×10-06
abnormal skin morphology Tagln2em1(IMPC)Tcp HOM Early adult 0.00
shortened QRS complex duration Tagln2em1(IMPC)Tcp HOM   Early adult 6.48×10-05
enlarged spleen Tagln2em1(IMPC)Tcp HOM Early adult 0.00
abnormal sternum morphology Tagln2em1(IMPC)Tcp HOM Early adult 0.00
increased mean platelet volume Tagln2em1(IMPC)Tcp HOM Early adult 8.06×10-05

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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.

Eye Morphology

Images Ophthalmoscopy

62 Images

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Gross Pathology and Tissue Collection

Images

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Histopathology

Images

4 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Human diseases caused by Tagln2 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 Tagln2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Sp... OMIM:314050
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Bleeding Disorder, Platelet-Type, 15
Epistaxis, Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggrega... OMIM:615193
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anemia of inadequate production, Anisocytos... OMIM:615631
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation... OMIM:155100
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Gait disturbance, Splenomegaly, Ataxia ORPHA:2274
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia OMIM:137560
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Candidiasis, Familial, 1
Cutaneous anergy OMIM:114580
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Spontaneous, recurrent epistaxis, Thrombocytopenia, Ma... OMIM:620486
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor... ORPHA:86841
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Myh9-Related Disease
Giant platelets, Spontaneous, recurrent epistaxis, Myocardial infarction, Congenital thrombocytop... ORPHA:182050
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hepatomegaly, Cirrhosis, H... OMIM:616860
Bernard-Soulier Syndrome
Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Impaired ristocetin-in... OMIM:231200
Slc35A1-Cdg
Giant platelets, Pulmonary hemorrhage, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Trimethylaminuria
Splenomegaly, Neutropenia, Anemia, Tachycardia, Hypertension OMIM:602079
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Bone marrow hypocellularity, Impaired platelet aggregation, Mac... OMIM:300835
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Epistaxis, Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired coll... OMIM:153670
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... OMIM:224120
Pelger-Huet Anomaly
Short 3rd metacarpal, Giant platelets, Upper limb undergrowth, Short 5th metacarpal, Polydactyly,... OMIM:169400
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Anemia, Congenital Dyserythropoietic, Type Iv
Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... OMIM:613673
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Bleeding Disorder, Platelet-Type, 21
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa... OMIM:617443
Iron-Refractory Iron Deficiency Anemia
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis OMIM:206200
Ghosal Hematodiaphyseal Dysplasia
Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abnormal femur morphology, Spl... ORPHA:1802
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function OMIM:267500
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Epistaxis, Thrombocytopenia OMIM:616176
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th... ORPHA:444463
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... OMIM:615285
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Immunodeficiency 11A
Agammaglobulinemia, Decreased circulating antibody level, Reduced antigen-specific T cell prolife... OMIM:615206
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Ataxia-Pancytopenia Syndrome
Ataxia, Acute myelomonocytic leukemia, Pancytopenia, Abnormal macrophage morphology, Splenomegaly... ORPHA:2585
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia, Attention deficit hyperactivity disorder OMIM:615401
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Metaphyseal chondrodysplasia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Sitosterolemia 1
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... OMIM:210250
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Jaundice, S... ORPHA:71275
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Caspase 8 Deficiency
Decreased circulating IgG level, Decreased circulating IgA level, Reduced CD95-induced lymphocyte... OMIM:607271
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Polycythemia Vera
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer... OMIM:263300
Immunodeficiency 52
Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor... OMIM:617514
Rh-Null, Amorph Type
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis OMIM:617970
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly OMIM:615593
Mantle Cell Lymphoma
Anorexia, Splenomegaly, Lymphadenopathy ORPHA:52416
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Overlapping toe, Thrombocytopenia, Ventricular arrhythmia, Increased mean ... OMIM:620475
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... ORPHA:98826
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Defective T cell proliferation OMIM:614493
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Dominant Beta-Thalassemia
Hepatic fibrosis, Dilated cardiomyopathy, Reduced hemoglobin A, Extramedullary hematopoiesis, Per... ORPHA:231226
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon... OMIM:614470
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... OMIM:618963
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Ataxia, Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Dy... OMIM:301310
Congenital Dyserythropoietic Anemia Type Iii
Melena, Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilo... ORPHA:98870
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Splenomegaly, Eosinophilia, Hepatomegaly, Myeloproliferative disorder OMIM:607685
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Gray Platelet Syndrome
Epistaxis, Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia ORPHA:721
Congenital Disorder Of Glycosylation, Type Iig
Posterior rib gap, Small hand, Shallow acetabular fossae, Ulnar deviation of finger, Broad femora... OMIM:611209
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Neutropenia, Ane... OMIM:603552
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Immunodeficiency 105
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple... OMIM:619924
Retinitis Pigmentosa And Erythrocytic Microcytosis
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... OMIM:616959
Ataxia-Pancytopenia Syndrome
Ataxia, Acute myelomonocytic leukemia, Pancytopenia, Dysmetria, Thrombocytopenia, Neutropenia, An... OMIM:159550
Specific Granule Deficiency 1
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... OMIM:245480
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Anemia, Neutropenia, Thrombocytopenia, Leukemia OMIM:614082
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
Immunodeficiency 76
Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia OMIM:619164
Sea-Blue Histiocyte Disease
Cirrhosis, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Spontaneou... ORPHA:274
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Camptodactyly, Hepatomegaly, Rocker bottom foot, Anisocytosis OMIM:604273
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:608971
Thrombocytopenia 3
Decreased mean platelet volume, Epistaxis, Thrombocytopenia OMIM:273900
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Takenouchi-Kosaki Syndrome
Clinodactyly, Overlapping toe, Thrombocytopenia, Ataxia, Camptodactyly, Increased mean platelet v... OMIM:616737
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Ataxia, Clinodactyly, Pulmonary hemorrhage, Decreased platelet glycoprotein... OMIM:603585
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Pancytopenia, Acute myeloid leuke... OMIM:619041
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Immunodeficiency 27A
Anorexia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hypoplasia of the femoral head, Lymphad... OMIM:209950
Babesiosis
Congestive heart failure, Leukopenia, Splenomegaly, Clinodactyly of the 5th toe, Thrombocytopenia... ORPHA:108
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Overlapping fingers, Hepatosplenomegaly, Radioulnar synostosis, Congenital thrombocytopenia, Thro... OMIM:616738
Autoimmune Lymphoproliferative Syndrome
Vasculitis, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Fol... OMIM:601859
Orotic Aciduria
Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r... OMIM:258900
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Sandhoff Disease
Hepatomegaly, Splenomegaly, Ataxia, Congestive heart failure ORPHA:796
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells OMIM:607616
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
Glut1 Deficiency Syndrome 2
Splenomegaly, Reticulocytosis, Ataxia, Hemolytic anemia, Choreoathetosis OMIM:612126
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Erlenmeyer flask deformity of the femurs, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytop... OMIM:610539
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Aplastic anemia, Pancytopenia, Abnormality of the... ORPHA:398124
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Immunodeficiency 66
Defective T cell proliferation OMIM:618847
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o... OMIM:619220
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea... OMIM:619846
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Aicardi-Goutieres Syndrome 6
Splenomegaly, Loss of ambulation, Thrombocytopenia, Hepatomegaly, Hemolytic anemia OMIM:615010
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Erythrocytosis, Familial, 1
Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased circulating hemoglob... OMIM:133100
Thrombocytopenia 5
Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thromb... OMIM:616216
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy, Anorexia, Splenomegaly, Hepatomegaly, Pancreatitis, Thrombocytopenia, Neutropenia... ORPHA:79312
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia, Spontaneous, recurrent epistaxis OMIM:620484
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Leukocyte Adhesion Deficiency, Type Iii
Epistaxis, Abnormality of thrombocytes, Extramedullary hematopoiesis, Abnormal lymph node morphol... OMIM:612840
Hemochromatosis, Type 2B
Hepatic fibrosis, Cardiomyopathy, Congestive heart failure, Splenomegaly, Hepatomegaly, Cirrhosis... OMIM:613313
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Syndromic Diarrhea
Aortic regurgitation, Hepatic fibrosis, Lymphopenia, Abnormality of the liver, Splenomegaly, Hypo... ORPHA:84064
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia, B lymphocytopenia, I... OMIM:150550
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:100024
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Hepatic fibrosis, Cholestasis, Avascular necrosis of the capital femoral ep... OMIM:222470
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia, Neutropenia, Ataxia OMIM:616949
Systemic Lupus Erythematosus 17
Hypertensive crisis, Lymphopenia, Leukopenia, Mitral regurgitation, Raynaud phenomenon, Thrombocy... OMIM:301080
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity OMIM:607624
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Atrial Standstill
Atrial standstill, Abnormal P wave, Cardiomyopathy, Congestive heart failure, Ventricular escape ... ORPHA:1344
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Immunodeficiency 48
Abnormal B cell count, Splenomegaly, Impaired lymphocyte transformation with phytohemagglutinin, ... OMIM:269840
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Vasculitis, Hematochezia, Cervical lymphadenopathy, Lymphocytosis... OMIM:617718
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia OMIM:613101
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopenia, Thrombocytopen... OMIM:226990
Autoimmune Lymphoproliferative Syndrome, Type Iia
Vasculitis, Gastrointestinal hemorrhage, Chronic noninfectious lymphadenopathy, Autoimmune hemoly... OMIM:603909
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatocellular necrosis, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Aniso... OMIM:618278
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Essential Thrombocythemia
Acute leukemia, Abnormality of thrombocytes, Transient ischemic attack, Leukocytosis, Splenomegal... ORPHA:3318
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h... OMIM:235700
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:859
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti... OMIM:619802
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decre... OMIM:300853
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Primary Myelofibrosis
Extramedullary hematopoiesis, Anorexia, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomeg... ORPHA:824
Atrial Fibrillation, Familial, 11
Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged QRS complex, Prolonged... OMIM:614049
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Abnormal metaphysis morphology, Splenomegaly ORPHA:417
Gaucher Disease Type 2
Hepatomegaly, Cardiac arrest, Dysphagia, Splenomegaly ORPHA:77260
Lymphoproliferative Syndrome, X-Linked, 1
Vasculitis, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B ce... OMIM:308240
Thrombocytopenia 1
Decreased mean platelet volume, Epistaxis, Congenital thrombocytopenia, Joint hemorrhage, Intermi... OMIM:313900
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Brachydactyly, Neutrophilia, Compulsive behaviors, Short foot OMIM:266265
Alpha-Heavy Chain Disease
Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:100025
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemogl... ORPHA:846
Long Qt Syndrome 10
Atrioventricular block, T-wave alternans, Prolonged QT interval, Atrial fibrillation, Sudden card... OMIM:611819
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:66661
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... OMIM:613470
Leishmaniasis
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Hepatomegaly, Lymphadenop... ORPHA:507
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Neutropenia, Abnormal T cell morphology OMIM:615214
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgE level, Increased circulating IgM level, Reduced antigen-specific T cell... OMIM:617241
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Lymphangiectasia, Intestinal
Prominent floating ribs, Lymphopenia, Intestinal lymphangiectasia OMIM:152800
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Impaired T cell function, Decreased circulating IgA level, Parti... OMIM:240500
Schnitzler Syndrome
Vasculitis, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia ORPHA:37748
Bone Marrow Failure Syndrome 6
Bone marrow hypocellularity, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymp... OMIM:618849
Nathalie Syndrome
Abnormal EKG OMIM:255990
Hemochromatosis, Type 3
Cardiomyopathy, Lymphopenia, Cirrhosis, Neutropenia, Anemia OMIM:604250
Muscular Dystrophy, Becker Type
Arrhythmia, Cardiomyopathy, Abnormal EKG OMIM:300376
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia, Pericarditis ORPHA:163596
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Spondylometaphyseal Dysplasia, Axial
Proximal femoral metaphyseal irregularity, Splenomegaly, Narrow greater sciatic notch, Anterior r... OMIM:602271
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Noonan Syndrome 12
Lymphopenia, 11 pairs of ribs, Supravalvular aortic stenosis, Thrombocytopenia, Proximal placemen... OMIM:618624
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal... ORPHA:848
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Anorexia, Splenomegaly, Lymphadenopathy ORPHA:86893
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Amegakaryocytic Thrombocytopenia, Congenital, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo... ORPHA:3226
Anemia, Hypochromic Microcytic, With Iron Overload 2
Sideroblastic anemia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, Elevated h... OMIM:615234
Long Qt Syndrome 14
T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fibrillation, Ca... OMIM:616247
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrioventricular block, Absent P wave, Palpitations, Atrial arrhythmia, Loss of ambulation, First... OMIM:310300
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Macrocytic anemia, Anemia of i... OMIM:617780
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Lymphopenia, B lymphocytopenia, Absent tonsils, Pulmonary ... ORPHA:277
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left v... OMIM:608751
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg... OMIM:618986
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Epistaxis, Decreased proportion of CD8-positive T cells, Lymphope... OMIM:301000
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Fetal ascites, Splenomegaly OMIM:619462
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti... ORPHA:169154
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple... OMIM:301078
Immunodeficiency 95
Lymphopenia OMIM:619773
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval OMIM:220400
Bleeding Disorder, Platelet-Type, 17
Epistaxis, Gastrointestinal hemorrhage, Increased RBC distribution width, Absence of alpha granul... OMIM:187900
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Immunodeficiency 7
Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat... OMIM:615387
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Pulmonary embolism, Splenomegaly, Reticulocyto... OMIM:185000
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Clinodactyly, Overlapping toe, Abnormality of the lymphatic system, Thrombocytopenia, Camptodacty... ORPHA:487796
Spherocytosis, Type 4
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Broad-based gait, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Parkinson-White syn... OMIM:619705
Gaucher Disease, Type I
Aortic valve stenosis, Epistaxis, Erlenmeyer flask deformity of the femurs, Pancytopenia, Hypersp... OMIM:230800
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Splenomegaly, Arrhythmia, Cirrh... OMIM:602390
Tyrosinemia Type 1
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma ORPHA:882
Gaucher Disease, Type Iii
Pancytopenia, Splenomegaly, Thrombocytopenia, Ataxia, Hepatomegaly OMIM:231000
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Lymphade... ORPHA:100026
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S... OMIM:266200
Immunodeficiency, Common Variable, 1
Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph... OMIM:607594
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Splenomegaly, Decreased proportion of memory T cells, Anemia, T lymp... OMIM:620632
Intellectual Developmental Disorder, Autosomal Recessive 41
Self-injurious behavior, Prominent fingertip pads, Splenomegaly, Hepatomegaly, Clinodactyly of th... OMIM:615637
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Progressive cerebellar ataxia, Progressive gait ataxia, Dysphagia, Abnormal EKG ORPHA:1177
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Hypotension, Ascites, Anorexia, Hepatosplenomegaly, Pancytopenia, Hy... ORPHA:98850
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis OMIM:619281
Short Fifth Metacarpals-Insulin Resistance Syndrome
Short 5th metacarpal, Spherocytosis, Splenomegaly ORPHA:66518
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Right ventricular failure, Cardiogenic shock, Sinus tachycardia, Congesti... ORPHA:563
Joubert Syndrome 33
Ataxia, Splenomegaly, Syndactyly OMIM:617767
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Absent circulating B cells, Splenomegaly, Generalized lymphadenopathy OMIM:620282
Loeffler Endocarditis
Aortic valve stenosis, Aortic regurgitation, Restrictive cardiomyopathy, Congestive heart failure... ORPHA:75566
Osteopetrosis, Autosomal Recessive 8
Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia OMIM:615085
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Progressive Familial Intrahepatic Cholestasis
Abnormality of thrombocytes, Cholestasis, Splenomegaly, Hepatomegaly, Jaundice ORPHA:172
Mucopolysaccharidosis, Type Iiib
Splenomegaly, Cardiomegaly, Aggressive behavior, Hyperactivity, Hepatomegaly, Asymmetric septal h... OMIM:252920
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic bridging fibrosis, Hepatic fibrosis, Limb ataxia, Gait ataxia, Splenomegaly, Hepatomegaly OMIM:616719
Infantile Sialic Acid Storage Disease
Congestive heart failure, Ascites, Splenomegaly, Cardiomegaly, Hepatomegaly, Vacuolated lymphocyt... OMIM:269920
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia OMIM:612527
Portal Hypertension, Noncirrhotic, 2
Epistaxis, Nodular regenerative hyperplasia of liver, Ascites, Portal hypertension, Splenomegaly,... OMIM:619463
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Neonatal cholestatic liver disease, Splenomegaly, Biliary tract abno... ORPHA:79301
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Hepatic fibrosis, Hepatic steatosis, Splenomegaly OMIM:614480
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega... ORPHA:158057
Idiopathic Aplastic Anemia
Epistaxis, Bone marrow hypocellularity, Pancytopenia, Retinal hemorrhage, Reticulocytopenia, Thro... ORPHA:88
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:158029
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Portal fibrosis, Portal hypertension, Splenomegaly, Iron deficiency anemia, Hep... OMIM:616278
Agammaglobulinemia 8B, Autosomal Recessive
B Acute Lymphoblastic Leukemia, Pancytopenia, Splenomegaly, Increased proportion of effector memo... OMIM:619824
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly OMIM:610333
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Splenomegaly, Sandal gap, Ascites ORPHA:1046
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG OMIM:309930
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly OMIM:617068
Neuraminidase Deficiency
Cardiomyopathy, Ascites, Epiphyseal stippling, Splenomegaly, Dysmetria, Cardiomegaly, Hepatomegal... OMIM:256550
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hypotension, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chro... ORPHA:98849
Indolent Systemic Mastocytosis
Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega... ORPHA:98848
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Hepatitis, Pancytopenia, Splenomegaly, Hepatomegaly OMIM:300635
Long Qt Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... OMIM:192500
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Gastrointestinal hemorrhage, Periportal fibrosis, Abno... ORPHA:64743
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... ORPHA:101016
Shwachman-Diamond Syndrome 1
Proximal femoral epiphysiolysis, Persistence of hemoglobin F, Exocrine pancreatic insufficiency, ... OMIM:260400
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro... OMIM:603554
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Diffuse alveolar hemorrhage, Pancytopenia, Splenomegaly, Throm... OMIM:616050
Roifman Syndrome
Short toe, Irregular femoral epiphysis, Splenomegaly, Hip contracture, Noncompaction cardiomyopat... OMIM:616651
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Acute pancreatitis, Recurrent tonsillitis, Granuloma, Lymphadenitis, Lymphopenia, Hepatosplenomeg... OMIM:618935
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Abnormal limb bone morphology, Splenomegaly ORPHA:2204
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly OMIM:618495
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice ORPHA:79477
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Increased red cell sickling tendency, Leukocytosis, Splenomeg... OMIM:603903
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Hemolytic anemia, Thrombocytopenia OMIM:616744
Immunodeficiency 114, Folate-Responsive
Lymphopenia, Splenomegaly, Megaloblastic anemia, Thrombocytopenia, Hepatomegaly OMIM:620603
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Anemia, Hepatomegaly, Splenomegaly, Vasculitis in the skin OMIM:620296
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system OMIM:271500
Long Qt Syndrome 16
Prolonged QTc interval, Second degree atrioventricular block, T-wave alternans, Bradycardia OMIM:618782
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia OMIM:611490
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD... ORPHA:331206
Beta-Thalassemia Intermedia
Cholelithiasis, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Er... ORPHA:231222
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Ascites, Leukopenia, Splenomegaly, Lymphadenopathy, Throm... ORPHA:381
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Lymphopenia, Leukopenia, Splenomegaly OMIM:620210
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure, Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Relapsing Fever
Epistaxis, Hypotension, Leukopenia, Leukocytosis, Jaundice, Thrombocytopenia, Neutrophilia, Anemi... ORPHA:91547
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu... ORPHA:822
Chediak-Higashi Syndrome
Ataxia, Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Spontaneous, recur... OMIM:214500
Immunodeficiency 42
Hepatomegaly, Hypoplasia of the thymus, Splenomegaly OMIM:616622
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Omenn Syndrome
Short toe, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia... ORPHA:39041
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:617243
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Elliptocytosis 1
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis OMIM:611804
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc... OMIM:194380
Harderoporphyria
Splenomegaly, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Hemolytic anemia OMIM:618892
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom... OMIM:602450
Gray Platelet Syndrome
Epistaxis, Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Spl... OMIM:139090
Lymphoproliferative Syndrome 2
Aplastic anemia, Hemophagocytosis, Ascites, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymph... OMIM:615122
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... ORPHA:35858
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Cardiomyopathy, Splenomegaly, Macrocytic anemia, Ataxia, Agitation OMIM:619046
Niemann-Pick Disease, Type A
Athetosis, Sea-blue histiocytosis, Microcytic anemia, Ascites, Inability to walk, Splenomegaly, H... OMIM:257200
Brugada Syndrome 7
Atrial flutter, Prolonged P wave, Paroxysmal atrial fibrillation, Permanent atrial fibrillation, ... OMIM:613120
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Tricuspid regurgitation, Ascites, Splenomegaly, Pulmonary arterial hype... ORPHA:2414
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Neutropenia, Monocytosis ORPHA:2688
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Lymphopenia, Autoimmune hemolytic anemia, Hyperactivity, Abnormal T cell morphology, Decr... ORPHA:760
Coronary Arterial Fistula
Aortic valve stenosis, Continuous heart murmur, Congestive heart failure, Abnormal EKG, Palpitati... ORPHA:2041
Amyloidosis, Hereditary Systemic 2
Cholestasis, Hepatomegaly, Hypertension, Splenomegaly OMIM:105200
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased proportion of transitional B cel... OMIM:616005
Tako-Tsubo Cardiomyopathy
Atrial fibrillation, Hypotension, Cardiogenic shock, Prolonged QTc interval, Palpitations, Mitral... ORPHA:66529
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Abnormal lymph node morphology, Abnormality of the lymphatic system, Neutrophilia,... ORPHA:54251
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Ischemic stroke, Leukocytosis, Cerebral ischemia, ST segment... ORPHA:90065
Typhoid
Epistaxis, Gastrointestinal hemorrhage, Splenomegaly, Arrhythmia, Ataxia, Hepatomegaly, Cardiac a... ORPHA:99745
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia, 2-3 toe syndactyly, Aggressive behavior, Hyperactivity, Motor stereotypy ORPHA:391307
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Prolonged PR ... ORPHA:99106
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Increased mean corpuscular volume, Portal hypertension... OMIM:620367
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... OMIM:615441
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Reduced l... OMIM:601494
Kaposiform Lymphangiomatosis
Epistaxis, Subconjunctival hemorrhage, Fractures of the long bones, Pancreatic cysts, Hepatosplen... ORPHA:464329
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Leukopenia, Neutropenia, Short long bone, Anemia, Schistocytosis, Thrombocytopenia, ... OMIM:301110
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Congestive heart failure, Tricuspid regurgitation, Lymphopenia, Leuk... ORPHA:508542
Wilson Disease
Hepatitis, Difficulty walking, Acute hepatitis, Hepatic steatosis, Splenomegaly, Hepatomegaly, Ag... ORPHA:905
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Splenomegaly, Lipogranulomatosis, Osteolytic defects of t... OMIM:228000
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, Premature ventricular cont... OMIM:609040
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Hepatitis, Lymphopenia, Hepatosplenomegaly, Eosinophilia, Anorexia, Decreased proportion of CD3-p... ORPHA:169160
Osteopetrosis, Autosomal Dominant 3
Anemia, Hepatomegaly, Splenomegaly OMIM:618107
Pediatric-Onset Graves Disease
Polydipsia, Sinus tachycardia, Congestive heart failure, Palpitations, Splenomegaly, Hepatomegaly... ORPHA:525731
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Pulmonary hemorrhage, Lymphadenopathy, Thromb... OMIM:619644
Immunodeficiency 81
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ... OMIM:619374
Mucopolysaccharidosis, Type Iiia
Splenomegaly, Hyperactivity, Hepatomegaly, Asymmetric septal hypertrophy, Thickened ribs OMIM:252900
Immunodeficiency 44
Lymphopenia OMIM:616636
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Sinus bradycardia, Left... OMIM:163800
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Atrioventricular block, Right ventricular failure, Ab... ORPHA:1329
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... ORPHA:231214
Tafro Syndrome
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocy... ORPHA:457077
Congenital Erythropoietic Porphyria
Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Thrombocytopenia,... ORPHA:79277
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Splenomegaly, Pancytopenia, Hemophagocytosis OMIM:618398
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Periportal fibrosis, Increased hepatic echogenicity,... OMIM:278000
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Erlenmeyer flask deformity of the femurs, Ascites, Hepatosple... ORPHA:77259
Adams-Oliver Syndrome 6
Hepatic fibrosis, Foot oligodactyly, Tricuspid regurgitation, Portal hypertension, Splenomegaly, ... OMIM:616589
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Impaired memory B cell generation, Abnormal circulating IgM leve... OMIM:308230
Wolman Disease
Ascites, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells ORPHA:75233
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Splenomegaly, Lymphadenopathy OMIM:611762
Fish-Eye Disease
Hepatomegaly, Angina pectoris, Splenomegaly, Lymphadenopathy ORPHA:79292
Ataxia-Telangiectasia
Aplasia/Hypoplasia of the thymus, Lymphopenia, Telangiectasia of the skin, Gait disturbance, Atax... ORPHA:100
Cyclic Neutropenia
Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Perianal absces... ORPHA:2686
Legionnaires Disease
Ataxia, Bone marrow hypocellularity, Hypotension, Hepatitis, Lymphopenia, Splenomegaly, Arrhythmi... ORPHA:549
Classic Hodgkin Lymphoma
Ataxia, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy, Anorexia, Hepatomegaly ORPHA:391
Dextrocardia
Congenital hip dislocation, Abnormality of abdominal situs, Pancreatic hypoplasia, Abnormal EKG, ... ORPHA:1666
Immunodeficiency 96
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619774
Macrophage Activation Syndrome
Hemophagocytosis, Hepatitis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Neutropenia, Thrombocyt... ORPHA:158061
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy ORPHA:545
Cinca Syndrome
Abnormality of thrombocytes, Leukocytosis, Splenomegaly, Hepatomegaly, Brachydactyly, Lymphadenop... ORPHA:1451
Fetal Cytomegalovirus Syndrome
Hepatitis, Retinal hemorrhage, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Jaundice ORPHA:294
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Splenomegaly, Jaundice OMIM:619658
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
Immunodeficiency 54
Hepatomegaly, Reduced natural killer cell count, Splenomegaly, Lymphadenopathy OMIM:609981
Cartilage-Hair Hypoplasia
Metaphyseal cupping, Abnormal pelvic girdle bone morphology, Flaring of lower rib cage, Lymphopen... OMIM:250250
Al Amyloidosis
Howell-Jolly bodies, Gastrointestinal hemorrhage, Postural hypotension with compensatory tachycar... ORPHA:85443
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Intracrani... ORPHA:85212
Congenital Sialidosis Type 2
Abnormal EKG, Ascites, Hepatosplenomegaly, Dysmetria, Polydactyly, Telangiectasia, Ataxia, Hepato... ORPHA:93400
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy ORPHA:56425
Glycogen Storage Disease Xv
T-wave inversion, Paroxysmal ventricular tachycardia, Ventricular fibrillation, ST segment elevat... OMIM:613507
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Splenomegaly, Autoimmune hemolytic anemia, Chronic lymphatic leukemia, ... ORPHA:90033
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Aregenerative Anemia
Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A... ORPHA:101096
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas... ORPHA:1414
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Growth arrest lines, Abnormal pelvic girdle bone morphology, Lymphopenia, Autoimmune hemolytic an... OMIM:102700
Purine Nucleoside Phosphorylase Deficiency
Cerebral vasculitis, Lymphopenia, Lymph node hypoplasia, Autoimmune hemolytic anemia, Splenomegal... OMIM:613179
Muscular Dystrophy, Duchenne Type
Dilated cardiomyopathy, Tip-toe gait, Cardiomyopathy, Abnormal EKG, Congestive heart failure, Los... OMIM:310200
Cholestasis-Lymphedema Syndrome
Neonatal cholestatic liver disease, Splenomegaly, Cirrhosis, Hepatomegaly, Jaundice OMIM:214900
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Felty Syndrome
Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphade... ORPHA:47612
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... ORPHA:330001
Mucopolysaccharidosis-Plus Syndrome
Bone marrow hypocellularity, Congestive heart failure, Hypertrophic cardiomyopathy, Inability to ... OMIM:617303
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Dilated cardiomyopathy, Sinus tachycardia, Congestive heart failure, Hypertrophic cardiomyopathy,... OMIM:255160
Mcleod Syndrome
Dilated cardiomyopathy, Cardiomyopathy, Acanthocytosis, Splenomegaly, Hepatomegaly, Atrial fibril... OMIM:300842
Andersen-Tawil Syndrome
Small hand, Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular extra... ORPHA:37553
Polycythemia Vera
Epistaxis, Acute leukemia, Gastrointestinal hemorrhage, Pulmonary embolism, Polycythemia, Budd-Ch... ORPHA:729
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Broad thumb, Clinodactyly, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Mitral regu... OMIM:612541
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Hepatomegaly, J... OMIM:612714
Pgm3-Cdg
Ataxia, Bone marrow hypocellularity, Reduced natural killer cell count, Abnormal CD4:CD8 ratio, C... ORPHA:443811
Sneddon Syndrome
Lymphopenia, Ischemic stroke, Hypertension, Cerebral hemorrhage OMIM:182410
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of... OMIM:242700
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Intestinal lymphangiectasia OMIM:207731
Mucopolysaccharidosis, Type Iiic
Splenomegaly, Thickened ribs, Hyperactivity, Hepatomegaly, Asymmetric septal hypertrophy, Dysphagia OMIM:252930
Hemophagocytic Syndrome Associated With An Infection
Ataxia, Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Hepato... ORPHA:158048
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Autoimmune... OMIM:616100
Schimke Immunoosseous Dysplasia
Shallow acetabular fossae, Hypoplasia of the capital femoral epiphysis, Lymphopenia, Pancytopenia... OMIM:242900
Congenital Left Ventricular Aneurysm
Arrhythmia, Congestive heart failure, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret... ORPHA:288
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... ORPHA:86843
Schimke Immuno-Osseous Dysplasia
Bone marrow hypocellularity, Shallow acetabular fossae, Abnormal proportion of naive CD4 T cells,... ORPHA:1830
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Anemia, Lymphopenia, Portal hypertension, Thrombocytopenia OMIM:620365
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Splenomegaly, Tibial bowing, Lower limb undergrowth, Bowing of the long bones, Abn... ORPHA:3035
Proteasome-Associated Autoinflammatory Syndrome 3
Finger swelling, Lymphopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anemia OMIM:617591
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Lymphopenia, Eosinophilia, Acute myeloid leukemia, Neutropenia, Monocytosis, Leu... ORPHA:486
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Hemochromatosis, Type 1
Cardiomyopathy, Congestive heart failure, Ascites, Splenomegaly, Telangiectasia, Cardiomegaly, Ar... OMIM:235200
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Ataxia, Cardiomyopathy, Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microc... OMIM:616084
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Reduced natural killer cell count, Lymphope... ORPHA:276
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Budd-Chiari synd... OMIM:127550
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Leukocytosis, Splenomegaly OMIM:618042
Transaldolase Deficiency
Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Telangi... OMIM:606003
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Broad ribs, Splenomegaly, Abscess, Flaring of rib cage, Neutrophilia, Hepatomegaly OMIM:612852
Letterer-Siwe Disease
Hepatosplenomegaly, Neutropenia, Thrombocytopenia, Anemia, Jaundice OMIM:246400
Disabling Pansclerotic Morphea Of Childhood
Lymphopenia, Neutropenia OMIM:620443
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Bone marrow hypo... OMIM:619767
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Lymphopenia, Decreased... OMIM:619510
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rachitic rosary, Hypochromic anem... ORPHA:289157
Rett Syndrome
Abnormal T-wave, Bruxism, Gait ataxia, Stereotypical hand wringing, Gait apraxia, Truncal ataxia,... OMIM:312750
Niemann-Pick Disease, Type C1
Fetal ascites, Sea-blue histiocytosis, Gait ataxia, Splenomegaly, Prolonged neonatal jaundice, At... OMIM:257220
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly OMIM:618394
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Clinodactyly of the 5th finger, Lymphopenia ORPHA:1116
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Cardiomyopathy, Palpitations, T-wave inversion, Arrhythmia, Ventricular tachycardia, Ventricular ... ORPHA:263297
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Lymphopenia, Eosinophilia, Impaired lymphoc... OMIM:617237
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Hepatitis, Lymphopenia, Leukopenia, Dysphagia, Thrombocytopenia, Mel... ORPHA:319218
Adult-Onset Still Disease
Neutrophilia, Bone marrow hypocellularity, Hepatitis, Leukocytosis, Splenomegaly, Hepatomegaly, G... ORPHA:829
Opsismodysplasia
Broad thumb, Abnormal epiphysis morphology, Splenomegaly, Brachydactyly, Hypoplastic pubic bone, ... ORPHA:2746
Short Qt Syndrome 1
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... OMIM:609620
Familial Thrombocytosis
Chronic myelogenous leukemia, Transient ischemic attack, Cerebral ischemia, Splenomegaly, Acute m... ORPHA:71493
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease... OMIM:608233
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Lymphopenia, Hepatic cysts, Na... OMIM:617425
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Ataxia, Vasculitis, Bone marrow hypocellularity, Dilated cardiomyopathy, Lymphopenia, Pancytopeni... OMIM:615688
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Hepatomegaly, Lymph... OMIM:603553
Triosephosphate Isomerase Deficiency
Normocytic anemia, Cholelithiasis, Congestive heart failure, Splenomegaly, Macrocytic anemia, Cho... OMIM:615512
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Leukopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Atax... OMIM:267700
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Cholestasis, Splenomegaly, Hepatomega... OMIM:616217
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations,... OMIM:601214
Recessive Mitochondrial Ataxia Syndrome
Limb dysmetria, Dysmetria, Gait disturbance, Ataxia, ST segment elevation, Dysphagia ORPHA:94125
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Splenomegaly, Generalized lymphadenopathy, Decreased p... OMIM:614700
Staphylococcal Necrotizing Pneumonia
Hypotension, Shock, Leukopenia, Leukocytosis, Addictive alcohol use, Neutrophilia ORPHA:36238
American Trypanosomiasis
Cardiomyopathy, Congestive heart failure, Splenomegaly, Hepatomegaly, Arrhythmia, Lymphadenopathy... ORPHA:3386
Idiopathic Hypereosinophilic Syndrome
Swelling of proximal interphalangeal joints, Hepatosplenomegaly, Chronic hepatitis, Neutrophilia,... ORPHA:3260
Waldenström Macroglobulinemia
Normocytic anemia, Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Ataxia, Congestive heart f... ORPHA:33226
Brugada Syndrome 6
Cardiac arrest, ST segment elevation, Ventricular fibrillation OMIM:613119
Spondyloepimetaphyseal Dysplasia, Shohat Type