Gene Summary

Name:
FMS-like tyrosine kinase 3
Synonyms:
CD135,  Flk2,  wmfl,  Flk-2,  Flt-3

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
abnormal spleen morphology Flt3em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal digit morphology Flt3em1(IMPC)Ccpcz HOM   Early adult 2.37×10-06
decreased NK cell number Flt3em1(IMPC)Ccpcz HOM   Early adult 5.40×10-06
decreased lean body mass Flt3em1(IMPC)Ccpcz HOM Early adult 1.03×10-05
abnormal uterus morphology Flt3em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart morphology Flt3em1(IMPC)Ccpcz HOM Early adult 0.00
hydrometra Flt3em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal eye morphology Flt3em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal skin morphology Flt3em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged heart Flt3em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal kidney morphology Flt3em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal skeletal muscle morphology Flt3em1(IMPC)Ccpcz HOM Early adult 0.00
decreased effector memory T-helper cell number Flt3em1(IMPC)Ccpcz HOM Early adult 3.53×10-05

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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.

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Hind Leg and Hip

32 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

X-ray

XRay Images Forepaw

16 Images

Human diseases caused by Flt3 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.

The table below shows human diseases associated to Flt3 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065

The table below shows human diseases predicted to be associated to Flt3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, Neutropenia, B lymphocytopenia OMIM:613107
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Severe varicella zoster infection, Decreased circulating antib... OMIM:618261
Immunodeficiency 15B
Reduced natural killer cell count, Chronic oral candidiasis, Decreased lymphocyte proliferation i... OMIM:615592
Ras-Associated Autoimmune Leukoproliferative Disorder
Splenomegaly, Hemolytic anemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Follicu... OMIM:614470
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, Decreased circulating total IgM, Chronic oral candidiasis, T lymphocyto... OMIM:300400
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent Haemophilus influenzae infections, Absent tonsils, Hepatomegaly, Decreased proportion o... ORPHA:276
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Recurrent respiratory infections, Ne... OMIM:615214
Carbimazole Sensitivity
Drug-induced agranulocytosis OMIM:212060
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Abnormal natural killer cell physiology, Decreased circulating antibody level, Recurrent ... OMIM:613101
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... OMIM:202700
Immunodeficiency 102
Recurrent sinusitis, Hepatomegaly, Decreased proportion of CD4-positive helper T cells, Partial a... OMIM:301082
Immunodeficiency 24
Severe varicella zoster infection, Decreased specific pneumococcal antibody level, Decreased CD4:... OMIM:615897
Immunodeficiency 105
Increased B cell count, Reduced natural killer cell count, Decreased circulating total IgM, T lym... OMIM:619924
Autoimmune Lymphoproliferative Syndrome, Type Iii
Recurrent sinusitis, Generalized lymphadenopathy, Hepatosplenomegaly, Hepatomegaly, Splenomegaly,... OMIM:615559
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Lymphoproliferative Syndrome, X-Linked, 1
Severe Epstein Barr virus infection, Meningitis, Hepatomegaly, Aplastic anemia, Thrombocytopenia,... OMIM:308240
Immunodeficiency 20
Reduced natural killer cell count, Severe varicella zoster infection, BCGitis, Reduced natural ki... OMIM:615707
Acquired Idiopathic Sideroblastic Anemia
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Myelodysplasia, Normocy... ORPHA:75564
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Anemia, Increased circulating antibody level, Enlarged kidney, Hepatomegaly, Extramed... OMIM:615285
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Acute myeloid leukemia, Bone marrow hypocellularity, Refractory anemia, Monocytosis OMIM:616871
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Immunodeficiency 69
Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Leukocytosis, Splenomegaly OMIM:618963
Immunodeficiency 84
Splenomegaly, Perianal abscess, B lymphocytopenia OMIM:619437
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal natural killer cell count, Chronic oral candidiasis, Abnormal proport... OMIM:212050
Dysplasia Of Head Of Femur, Meyer Type
Enlarged tonsils, Leukocytosis ORPHA:168621
Immunodeficiency 18
Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Myelodysplasia, Erythro... ORPHA:86841
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Hepatosplenomegaly, Eosinophilia,... OMIM:619802
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Immunodeficiency 76
T lymphocytopenia, B lymphocytopenia, Lymphopenia, Lymphadenopathy, Splenomegaly OMIM:619164
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia OMIM:242870
Immunodeficiency 14B, Autosomal Recessive
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis OMIM:619281
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel... ORPHA:521
Autoinflammation With Infantile Enterocolitis
Anemia, Reduced natural killer cell count, Reduced natural killer cell activity, Pancytopenia, Fa... OMIM:616050
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Panhypogammaglobulinemia, BCGitis, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, A... OMIM:602450
Immunodeficiency 43
Reduced natural killer cell count, Decreased specific antibody response to polysaccharide vaccine... OMIM:241600
Hemophagocytic Lymphohistiocytosis, Familial, 3
Anemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytope... OMIM:608898
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, T lymphocytopenia, Perianal abscess, Decreased circulating ant... OMIM:618108
Purine Nucleoside Phosphorylase Deficiency
Recurrent opportunistic infections, Splenomegaly, Decreased lymphocyte proliferation in response ... OMIM:613179
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic oral ... OMIM:615401
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly, Hepatomegaly OMIM:606445
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Panhypogammaglobulinemia, T lymphocytopenia, Abnormality of B cell physiology, Recurrent otitis m... OMIM:600802
Immunodeficiency 85 And Autoimmunity
Persistent EBV viremia, Reduced natural killer cell count, Decreased circulating total IgM, T lym... OMIM:619510
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
T lymphocytopenia, Increased proportion of transitional B cells, Lymphadenopathy, Decreased propo... OMIM:615513
Immunodeficiency 27A
Anemia, Enlarged mesenteric lymph node, Hepatosplenomegaly, Lymphadenopathy, Thrombocytosis, Leuk... OMIM:209950
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Leukocyte Adhesion Deficiency, Type Iii
Abnormal lymph node morphology, Abnormality of thrombocytes, Anemia, Hepatosplenomegaly, Leukocyt... OMIM:612840
Primary Myelofibrosis
Anemia, Pancytopenia, Hepatosplenomegaly, Poikilocytosis, Hemangioma, Lymphadenopathy, Thrombocyt... ORPHA:824
Immunodeficiency 19
Abnormal natural killer cell morphology, T lymphocytopenia, Abnormal B cell morphology OMIM:615617
Immunodeficiency 104
Splenomegaly, Lymphadenopathy, T lymphocytopenia, Hepatomegaly OMIM:608971
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Reduced natural killer cell count, Decreased circulating total IgM, Disseminated molluscum contag... OMIM:243700
Adult Idiopathic Neutropenia
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia ORPHA:2688
Myeloproliferative Syndrome, Transient
Transient myeloproliferative syndrome, Leukocytosis OMIM:159595
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Defective T cell proliferation, Decreased proportion of CD8... OMIM:614493
Juvenile Arthritis
Thrombocytosis, Leukocytosis OMIM:618795
Polycythemia Vera
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... OMIM:263300
Asplenia, Isolated Congenital
Asplenia, Howell-Jolly bodies, Thrombocytosis OMIM:271400
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Persistent EBV viremia, Severe varicella zoster infection, Decreased CD4:CD8 ratio, Recurrent res... OMIM:300853
Immunodeficiency 52
Persistent EBV viremia, Increased proportion of gamma-delta T cells, Decreased circulating antibo... OMIM:617514
Thrombocythemia 3
Thrombocytosis OMIM:614521
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Persistence of hemoglobin F, Pigment gallstones, Chronic hemol... ORPHA:232
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy OMIM:618987
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Persistent EBV viremia, Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Neutro... ORPHA:158057
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
Immunodeficiency 75 With Lymphoproliferation
Lymphadenopathy, Follicular hyperplasia, Decreased proportion of class-switched memory B cells, H... OMIM:619126
Thrombocythemia 2
Thrombocytosis OMIM:601977
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Persistence of hemoglobin F, Abnormal bone structure, Hepatomegaly, Splenomegaly ORPHA:46532
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Autoi... ORPHA:231154
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent opportunistic infections, Decreased circulating total IgM, Chronic oral candidiasis, T ... ORPHA:35078
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Hepatitis, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... ORPHA:444463
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Reduced antigen-specific T cell proliferation, Abnormal B cell count, Hepatosplenomegaly, Abnorma... ORPHA:331206
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Reduced natural killer cell count, Decreased circulating total IgM, Cutaneous abscess, Chronic mu... OMIM:619752
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Sterile abscess, Pancytopenia, Hepatosplenomegaly, Thrombocytosis, Microcytic anemia OMIM:604416
Hemoglobin H Disease
Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly OMIM:613978
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Immunodeficiency 50
Neutropenia, Recurrent urinary tract infections, Decreased circulating antibody level, Lymphopeni... OMIM:300988
Trimethylaminuria
Anemia, Neutropenia, Splenomegaly OMIM:602079
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Refractory anemia with ringe... OMIM:133180
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B... OMIM:618204
Eosinophilia, Familial
Anemia, Thrombocytopenia, Leukocytosis, Eosinophilia OMIM:131400
Agammaglobulinemia, X-Linked
Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ... OMIM:300755
Immunodeficiency 21
Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, Ly... OMIM:614172
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly OMIM:206400
Familial Hemophagocytic Lymphohistiocytosis
Anemia, Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor s... ORPHA:540
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Jaund... OMIM:616689
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Caspase 8 Deficiency
Decreased CD4:CD8 ratio, Decreased circulating total IgM, Decreased T cell activation, Recurrent ... OMIM:607271
Hypereosinophilic Syndrome, Idiopathic
Hepatomegaly, Splenomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Essential Thrombocythemia
Abnormality of thrombocytes, Myelodysplasia, Myelofibrosis, Abnormal platelet morphology, Acute l... ORPHA:3318
Mast Cell Sarcoma
Sarcoma, Mastocytosis, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly ORPHA:66661
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Decreased circulating antibody level, Lymphopenia, Pancytopenia, Thrombocyt... OMIM:617780
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Immunodeficiency 81
Reduced natural killer cell activity, Impaired neutrophil chemotaxis, Reduced antigen-specific T ... OMIM:619374
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology ORPHA:2690
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly ORPHA:231393
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgE, Impaired Ig class switch recombination, Recurrent bacterial infections... OMIM:606843
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Abnormality of the liver, Decreased circulating IgG level OMIM:235550
Ollier Disease
Anemia, Chondrosarcoma, Sarcoma, Multiple enchondromatosis, Visceral angiomatosis, Hemangioma, Os... ORPHA:296
Immunodeficiency With Hyper-Igm, Type 2
Complete or near-complete absence of specific antibody response to tetanus vaccine, Recurrent upp... OMIM:605258
X-Linked Lymphoproliferative Disease
Severe Epstein Barr virus infection, T lymphocytopenia, Hepatosplenomegaly, Increased T cell coun... ORPHA:2442
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
Beta-Thalassemia Intermedia
Cholelithiasis, Cirrhosis, Abnormality of the liver, Increased HbA2 hemoglobin, Elevated hepatic ... ORPHA:231222
Immunodeficiency 95
Increased circulating IgG3 level, Lymphopenia, Decreased circulating IgG3 level, Recurrent viral ... OMIM:619773
Immunodeficiency 64 With Lymphoproliferation
Recurrent lower respiratory tract infections, Decreased lymphocyte proliferation in response to m... OMIM:618534
Immunodeficiency 11
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytope... OMIM:619313
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Autoimmune Hemolytic Anemia, Cold Type
Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia ORPHA:228312
Immunodeficiency 54
Reduced natural killer cell count, Failure to thrive, Lymphadenopathy, Hepatomegaly, Recurrent vi... OMIM:609981
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
B lymphocytopenia, Lymphadenopathy, Abnormal CD4:CD8 ratio, Neutropenia, Intermittent thrombocyto... OMIM:150550
Pgm3-Cdg
T lymphocytopenia, Reduced antigen-specific T cell proliferation, Bone marrow hypocellularity, Eo... ORPHA:443811
Mu-Heavy Chain Disease
Anemia, Abnormal B cell count, Lymphadenopathy, Hepatomegaly, Splenomegaly ORPHA:100024
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly, Cirrhosis OMIM:269600
Li-Fraumeni Syndrome
Nephroblastoma, Breast carcinoma, Prostate cancer, Adrenocortical carcinoma, Choriocarcinoma, Neo... OMIM:151623
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... OMIM:603902
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Absen... OMIM:619846
Osteopetrosis, Autosomal Recessive 2
Anemia, Osteopetrosis, Pancytopenia, Hepatosplenomegaly, Decreased osteoclast count, Diaphyseal s... OMIM:259710
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent lower respiratory tract infections, Recurrent oral herpes, Neutropenia in presence of a... OMIM:619220
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent opportunistic infections, T lymphocytopenia, B lymphocytopenia, Lack of T cell function... ORPHA:277
Reticular Dysgenesis
Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Immunodeficiency 13
Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Decreased proportion ... OMIM:615518
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Myelofibrosis... ORPHA:86843
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Leukopenia, Anemia, Reduced natural killer cell activity, Jaundice, Pa... OMIM:603553
Hyperbilirubinemia, Shunt, Primary
Jaundice, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, ... OMIM:237800
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hepatosplenomegaly, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Monocytosis, T... OMIM:619644
Immunodeficiency 92
B lymphocytopenia, Lymphocytosis, Sclerosing cholangitis, Cholangitis, Decreased proportion of cl... OMIM:619652
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia ORPHA:231242
Reticuloendotheliosis, X-Linked
Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:312500
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Recu... OMIM:618982
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia, Monocytosis, Apl... ORPHA:486
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Anisopoikilocytosis, Myelofibrosis, Thrombocytopenia, Splenomegaly OMIM:617441
Heme Oxygenase 1 Deficiency
Asplenia, Hemolytic anemia, Coombs-positive hemolytic anemia, Lymphadenopathy, Thrombocytosis, He... OMIM:614034
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Hepatosplenomegaly, Hepatomegaly, Absence of lymph node germinal center, Throm... ORPHA:79124
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Neutropenia, Absent circulating B cells OMIM:613501
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Lymphadenitis, Leukopenia, T lymphocytopenia, Monocytopenia, B lymphocytopenia, Impaired neutroph... OMIM:618986
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly OMIM:269840
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly, B-cell lymphoma ORPHA:52416
Immunodeficiency 68
Lymphadenitis, Abnormal natural killer cell count, T lymphocytopenia, B lymphocytopenia, Abscess OMIM:612260
Immunodeficiency 110 With Lymphoproliferation
Neutropenia, Lymphopenia OMIM:614868
Immunodeficiency 98 With Autoinflammation, X-Linked
B lymphocytopenia, Myelofibrosis, Autoimmune hemolytic anemia, Lymphadenopathy, Hemophagocytosis,... OMIM:301078
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Eosinophilia, Hepatomegaly, Impaired oxidative burst, Thromb... OMIM:226990
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Hyperostosis cranialis interna, Increased bone mineral density, Myelofibrosis, Bone m... OMIM:231095
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Acute Myelomonocytic Leukemia
Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia ORPHA:517
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia OMIM:616873
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
T lymphocytopenia, Hepatosplenomegaly, Eosinophilia, Decreased proportion of CD4-positive helper ... ORPHA:169154
Spherocytosis, Type 5
Hemolytic anemia, Jaundice, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, S... OMIM:612690
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia ORPHA:231401
Hemophagocytic Lymphohistiocytosis, Familial, 4
Anemia, Jaundice, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Thrombocytopenia, Neutropenia,... OMIM:603552
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Immunodeficiency With Hyper-Igm, Type 5
Recurrent upper and lower respiratory tract infections, Impaired Ig class switch recombination, R... OMIM:608106
Familial Thrombocytosis
Acute myeloid leukemia, Myelodysplasia, Thrombocytosis, Splenomegaly, Chronic myelogenous leukemia ORPHA:71493
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Decreased CD4:CD8 ratio, Recurrent urinary tract infections, Recurrent otitis media, Failure to t... OMIM:618495
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia, Failure to thrive, Decreased circulating Ig... OMIM:242860
Immunodeficiency 62
Increased proportion of transitional B cells, Decreased proportion of memory B cells, B lymphocyt... OMIM:618459
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Abnormality of the peritoneum ORPHA:2023
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, B lymphocytopenia, Neutropenia in presence of anti-neutropil ant... OMIM:607594
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Rhabdoid Tumor
Anemia, Neoplasm of the central nervous system, Sarcoma, Neoplasm of the liver, Renal neoplasm, L... ORPHA:69077
Immunodeficiency 44
Abnormal circulating IgG level, Decreased circulating total IgM, Post-vaccination measles, Severe... OMIM:616636
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Abnormal macrophage morphology, Decreased circulating antibody lev... ORPHA:2585
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Autoimmune hemolytic anemia, Lymphopenia OMIM:247800
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hypoplasia of the thymus, Decreased circulating antibody level, Interface hepatitis, Lymphopenia,... OMIM:243150
Autoinflammation With Episodic Fever And Lymphadenopathy
Lymphadenopathy, Hepatomegaly, Splenomegaly, Microcytic anemia, Recurrent tonsillitis OMIM:618852
Hereditary Spherocytosis
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolyti... ORPHA:822
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Immunodeficiency, Common Variable, 2
Recurrent bronchitis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia, Recurrent... OMIM:240500
Myelofibrosis
Splenomegaly, Myelofibrosis, Myeloproliferative disorder OMIM:254450
Gray Platelet Syndrome
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly, Myelodysplasia ORPHA:721
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Decreased lymphocyte proliferation in response to mitogen, Increased ci... ORPHA:169160
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Recurrent ear infections, Abnormal T cell subset distribution, Reduced natural killer cell count,... ORPHA:221139
Ghosal Hematodiaphyseal Dysplasia
Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Splenomegaly ORPHA:1802
Omenn Syndrome
Anemia, Hypoplasia of the thymus, B lymphocytopenia, Severe B lymphocytopenia, Lymphadenopathy, E... OMIM:603554
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reticulocytosis, Cholelithiasis, Anemia of inadequate production, Splenomegaly OMIM:224100
Lymphoproliferative Syndrome 2
Persistent EBV viremia, Severe varicella zoster infection, EBV meningitis, Decreased circulating ... OMIM:615122
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Bone-marrow foam cells, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:607616
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Absent circulating B cells OMIM:613500
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Thrombocytopenia, Splenomegaly, Abnormal T cell subset distribution, Invasive funga... ORPHA:158048
Macrophage Activation Syndrome
Abnormal natural killer cell count, Anemia, Increased circulating interleukin 6 concentration, Ab... ORPHA:158061
Schnitzler Syndrome
Lymphoma, Anemia, Increased bone mineral density, Lymphadenopathy, Leukocytosis, Increased circul... ORPHA:37748
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia OMIM:601457
Dominant Beta-Thalassemia
Hepatic fibrosis, Cirrhosis, Hypersplenism, Reduced hemoglobin A, Jaundice, Decreased mean corpus... ORPHA:231226
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Autoimmune throm... OMIM:619375
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:312863
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Decreased CD4:CD8 ratio, Chronic oral candidiasis, Enlarged pl... OMIM:608233
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Absent circulating B cells OMIM:619707
Sting-Associated Vasculopathy, Infantile-Onset
Leukopenia, Anemia, Lymphopenia, Follicular hyperplasia, Increased circulating IgA level, Thrombo... OMIM:615934
Osteopetrosis, Autosomal Recessive 3
Anemia, Hepatosplenomegaly, Diaphyseal sclerosis, Extramedullary hematopoiesis, Cranial hyperosto... OMIM:259730
Desmoplastic Small Round Cell Tumor
Anemia, Neoplasm of the central nervous system, Neoplasm of the lung, Sarcoma, Neoplasm of the pa... ORPHA:83469
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Reduced natural killer cell activity, Recurrent bacterial infecti... OMIM:300291
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Enla... OMIM:616005
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Anemia, Decreased circulating antibody level, Thrombocytosis, Hepatomegaly, Iron deficiency anemi... OMIM:226300
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Osteopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:610539
Beta-Thalassemia Major
Hepatic fibrosis, Cirrhosis, Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decreased ... ORPHA:231214
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, B lymphocytopenia, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Pancyt... OMIM:619824
Alpha-Thalassemia
Anemia, Hemolytic anemia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemoglobin, Splenomeg... ORPHA:846
Osteopetrosis, Autosomal Recessive 5
Anemia, Osteopetrosis, Increased bone mineral density, Pancytopenia, Hepatosplenomegaly, Hypochro... OMIM:259720
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Gray Platelet Syndrome
Abnormal number of alpha granules, Myelofibrosis, Impaired collagen-induced platelet aggregation,... OMIM:139090
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Ethanolaminosis
Cardiomegaly OMIM:227150
Poems Syndrome
Increased circulating antibody level, Sclerosis of foot bone, Polycythemia, Hemangioma, Lymphaden... ORPHA:2905
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... ORPHA:251380
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Hepatomeg... OMIM:615631
Alpha-Heavy Chain Disease
Lymphoma, Anemia, Lymphadenopathy, Hepatomegaly, Dysgammaglobulinemia, Ascites, Splenomegaly ORPHA:100025
Lymphoproliferative Syndrome 1
Persistent EBV viremia, Leukopenia, Anemia, Decreased circulating antibody level, Pancytopenia, A... OMIM:613011
Immunodeficiency With Hyper-Igm, Type 1
Sclerosing cholangitis, Meningitis, Hepatomegaly, Absence of lymph node germinal center, Thromboc... OMIM:308230
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... ORPHA:2133
Immunodeficiency 82 With Systemic Inflammation
Anemia, Reduced natural killer cell count, Decreased circulating total IgM, Weight loss, T lympho... OMIM:619381
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Myelodysplasia, Bone marrow hypocellularity, Leukocytosis, Multiple linea... ORPHA:98827
Progressive Familial Intrahepatic Cholestasis
Abnormality of thrombocytes, Jaundice, Neoplasm, Cholestasis, Hepatomegaly, Splenomegaly, Reduced... ORPHA:172
Wiskott-Aldrich Syndrome
Recurrent sinusitis, Eosinophilia, Decreased proportion of CD4-positive helper T cells, Decreased... OMIM:301000
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Fibroma, Decreased circulating antibody level, Hepatosplenomegaly, Lymphadenopathy, Microcytic an... OMIM:619750
Meige Disease
Absence of lymph node germinal center, Lymph node hypoplasia, Angiosarcoma ORPHA:90186
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Anemia, Decreased circulating antibody level, Pancytopenia, Hepatosplenomegaly, Lymph... OMIM:615688
Tyrosinemia Type 1
Hepatocellular carcinoma, Splenomegaly, Hepatomegaly, Rickets of the lower limbs ORPHA:882
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Erythroid hypoplasia, Hepatosplen... OMIM:612541
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, B lymphocytopenia, Failure to thrive, Recurrent bacterial infections, Th... OMIM:618048
Fgfr2-Related Bent Bone Dysplasia
Coronal craniosynostosis, Hepatosplenomegaly, Incomplete ossification of pubis, Osteopenia, Decre... ORPHA:313855
Autoimmune Lymphoproliferative Syndrome
Chronic noninfectious lymphadenopathy, Coombs-positive hemolytic anemia, Neutropenia in presence ... OMIM:601859
Congenital Bile Acid Synthesis Defect Type 2
Jaundice, Hepatic steatosis, Rickets, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopo... ORPHA:79303
Burkitt Lymphoma
Abnormal lymph node morphology, Abnormality of the pancreas, Abnormality of the liver, Decreased ... ORPHA:543
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Splenomegaly, Hepatomegaly OMIM:619462
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphoma, Breast carcinoma, Lymphadenopathy, Hepatomegaly, Splenomegaly, B-cell lymphoma ORPHA:86893
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Reduced natural killer cell count, Increased circulating interleukin 6 concentration, Weight loss... OMIM:301074
T-Cell Immunodeficiency With Thymic Aplasia
T lymphocytopenia, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplen... OMIM:242700
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Abnormality of the thymus, Absent tonsils, Abnormal... OMIM:611926
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Splenomegaly, Leukocytosis OMIM:611762
Erythrocytosis, Familial, 8
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia OMIM:222800
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... ORPHA:766
Idiopathic Hypereosinophilic Syndrome
Anemia, Myelodysplasia, Neutrophilia, Pancreatitis, Generalized lymphadenopathy, Portal fibrosis,... ORPHA:3260
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Acute myeloid leukemia, Myelofibrosis, Chronic myelomonocytic leukemia OMIM:616604
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, B lymphocytopenia OMIM:612692
Acute Peripheral Arterial Occlusion
Leukocytosis ORPHA:90064
Gamma-Heavy Chain Disease
Neoplasm of the tongue, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphad... ORPHA:100026
Indolent Systemic Mastocytosis
Mastocytosis, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cells, Hepatomega... ORPHA:98848
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Thrombocytopenia, Splenomegaly, Hepatomegaly OMIM:615010
Proteus Syndrome
Multiple lipomas, Thin bony cortex, Hemangioma, Facial hyperostosis, Mandibular hyperostosis, Lip... OMIM:176920
Immunodeficiency 7
Hypereosinophilia, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly, Neutropenia, Splen... OMIM:615387
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Recurrent Staphylococcus aureus infections, Sclerosing cholangitis, Decreased ... ORPHA:572
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Pancreatic squamous cell carcinom... ORPHA:443167
Li-Fraumeni Syndrome 2
Stomach cancer, Breast carcinoma, Sarcoma, Meningioma, Glioma OMIM:609265
Classic Mycosis Fungoides
Lymphoma, Neoplasm of the skin, Lymphadenopathy, Hepatomegaly, Cutaneous T-cell lymphoma, Splenom... ORPHA:2584
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Osteopetrosis, Autosomal Recessive 8
Anemia, Hepatomegaly, Thrombocytopenia, Osteopetrosis, Splenomegaly OMIM:615085
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Splenomegaly ORPHA:158029
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Glut1 Deficiency Syndrome 2
Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:612126
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Muscle fiber atrophy, Internally nucleated skelet... OMIM:618654
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anemia, Cirrhosis, Jaundice, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Thrombocytopenia With Beta-Thalassemia, X-Linked
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... OMIM:314050
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly ORPHA:75563
Celiac Disease, Susceptibility To, 1
Lymphoma, Rickets, Thrombocytosis, Decreased circulating IgA level, Macrocytic anemia, Iron defic... OMIM:212750
Mitochondrial Complex I Deficiency, Nuclear Type 39
Anemia, Perimembranous ventricular septal defect, Small for gestational age, Atrial septal defect... OMIM:620135
Combined Saposin Deficiency
Splenomegaly, Hepatomegaly OMIM:611721
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent cir... OMIM:619705
Hypertriglyceridemia, Transient Infantile
Hepatic steatosis, Hepatic fibrosis, Splenomegaly, Hepatomegaly OMIM:614480
Syndromic Diarrhea
Hepatic fibrosis, Cirrhosis, Hypoplasia of the thymus, Panhypogammaglobulinemia, Abnormality of t... ORPHA:84064
Immunodeficiency 70
B lymphocytopenia, Decreased proportion of CD4-positive helper T cells OMIM:618969
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Coxa valga, Finger syndactyly, Abnormal cardiac septum morphology, Tibial torsion, Hi... ORPHA:3320
Aggressive Systemic Mastocytosis
Anemia, Hypersplenism, Pancytopenia, Hepatosplenomegaly, Osteolysis, Lymphadenopathy, Osteoporosi... ORPHA:98850
Galactose Epimerase Deficiency
Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Hemochromatosis, Type 2B
Hepatic fibrosis, Anemia, Cirrhosis, Hepatomegaly, Splenomegaly OMIM:613313
Lymphoproliferative Syndrome, X-Linked, 2
Hepatitis, Pancytopenia, Hemophagocytosis, Hepatomegaly, Aplastic anemia, Splenomegaly OMIM:300635
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Pancytopenia,... ORPHA:859
Deafness-Lymphedema-Leukemia Syndrome
Lymphadenopathy, Abnormal neutrophil count, Bone marrow hypocellularity, Leukocytosis, Myeloproli... ORPHA:3226
Osteopetrosis, Autosomal Recessive 4
Anemia, Increased bone mineral density, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Osteopet... OMIM:611490
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Abnormality of the upper limb, Aplasia/Hypoplasia of the fibula, Finger syndactyly, Clinodactyly ... ORPHA:2141
Hodgkin Lymphoma
Lymphoma, Lymphadenopathy, Neoplasm, Hepatomegaly, Splenomegaly ORPHA:98293
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Autoimmune th... OMIM:616100
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Anemia, Myelodysplasia, Pancytopenia, Bone marrow hypocellularity, Increa... OMIM:619041
Leishmaniasis
Leukopenia, Anemia, Abnormal macrophage morphology, Pancytopenia, Lymphadenopathy, Hepatomegaly, ... ORPHA:507
Immunodeficiency 42
Hypoplasia of the thymus, Splenomegaly, Hepatomegaly OMIM:616622
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Intermittent jaundice, Hemolytic anemia, Abnormal mean corpuscular volume, Decrea... ORPHA:3203
Blackfan-Diamond Anemia
Acute myeloid leukemia, Leukopenia, Osteosarcoma, Adenocarcinoma of the colon, Reticulocytopenia,... ORPHA:124
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... OMIM:608203
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Portal vein thrombosis, Splenomegaly, Hepatomegaly OMIM:610293
Milroy Disease
Angiosarcoma, Neoplasm of the skin ORPHA:79452
Autoimmune Lymphoproliferative Syndrome, Type Iia
Chronic noninfectious lymphadenopathy, Increased B cell count, Coombs-positive hemolytic anemia, ... OMIM:603909
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Severe varicella zoster infection, Decreased CD4:CD8 ratio, Recurrent respiratory infections, Chr... OMIM:606367
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Intestinal lymphangiectasia, Lymphopenia, Decreased circulating IgG level OMIM:152800
Spherocytosis, Type 4
Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Spherocytosis OMIM:612653
Griscelli Syndrome Type 2
Jaundice, Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Neutropenia, Splenomegaly ORPHA:79477
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Splenomegaly, Hepatomegaly OMIM:617068
Sandhoff Disease
Splenomegaly, Hepatomegaly ORPHA:796
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Reticulocytosis, Cholecystitis, Cholelithiasis, Nonspherocytic hemol... OMIM:235700
Thymic Aplasia
Hypocalcemic tetany, Opportunistic infection, T lymphocytopenia, Recurrent Staphylococcus aureus ... ORPHA:83471
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune thrombocytopenia, Impaired Ig class switch recombination, Autoimmune hemolytic anemia,... OMIM:608184
Dysplastic Cortical Hyperostosis
Increased bone mineral density, Abnormal cortical bone morphology, Splenomegaly, Hepatomegaly ORPHA:2204
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Bleeding Disorder, Platelet-Type, 17
Impaired epinephrine-induced platelet aggregation, Myelofibrosis, Macrothrombocytopenia, Increase... OMIM:187900
Cinca Syndrome
Anemia, Hepatosplenomegaly, Lymphadenopathy, Leukocytosis, Eosinophilia OMIM:607115
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Hemolytic anemia, Jaundice, Reticulocytosis, Hepatomegaly, Splenomegaly OMIM:185000
Polycythemia Vera
Myelodysplasia, Myelofibrosis, Portal vein thrombosis, Hepatomegaly, Portal hypertension, Acute l... ORPHA:729
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly OMIM:271500
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Anemia, Hemophagocytosis, Splenomegaly, Pancytopenia OMIM:618398
Galactosemia Iii
Jaundice, Splenomegaly, Hepatomegaly OMIM:230350
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Heinz bodies, Jaundice, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anis... OMIM:300908
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Chronic myelomonocytic leukemia, Myelodysplasia, Eosinophilia, Myeloproli... ORPHA:98849
Beta-Ketothiolase Deficiency
Thrombocytosis, Leukocytosis, Hepatomegaly ORPHA:134
3-Hydroxy-3-Methylglutaric Aciduria
Leukopenia, Anemia, Jaundice, Acute pancreatitis, Thrombocytosis, Leukocytosis, Hepatomegaly, Lip... ORPHA:20
Spherocytosis, Type 2
Hemolytic anemia, Jaundice, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis OMIM:616649
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Sarcoma, Squamous cell carcinom... OMIM:606719
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Abnormal natural killer cell morphology, T lymphocytopenia, B lymphocytopenia OMIM:615966
Mastocytosis
Sarcoma, Mastocytosis, Osteoporosis, Hepatomegaly, Acute leukemia, Splenomegaly, Chronic leukemia ORPHA:98292
Thrombocytopenia 6
Thrombocytopenia, Osteoporosis, Myelofibrosis OMIM:616937
Spherocytosis, Type 1
Hemolytic anemia, Jaundice, Reticulocytosis, Cholelithiasis, Splenomegaly, Spherocytosis OMIM:182900
Immunodeficiency 49
T lymphocytopenia, Decreased proportion of naive CD4 T cells, Lymphopenia, Abnormally low T cell ... OMIM:617237
Hepatocellular Carcinoma
Anemia, Abnormality of the liver, Liver abscess, Hepatic necrosis, Jaundice, Polycythemia, Neopla... ORPHA:88673
Classic Hodgkin Lymphoma
Lymphoma, Osteolysis, Lymphadenopathy, Neoplasm, Bone marrow hypocellularity, Hepatomegaly, Splen... ORPHA:391
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Splenomegaly, Cholestasis, Hepatomegaly OMIM:620010
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenitis, Perianal abscess, Hemolytic anemia, Granuloma, Lymphopenia, Hepatosplenomegaly, Ac... OMIM:618935
Babesiosis
Leukopenia, Hemolytic anemia, Jaundice, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:108
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Cholelithiasis, Spontaneous hemolytic crises, Jaundice, Cholecystitis, Impaired neutrophil bacter... OMIM:613470
Combined Immunodeficiency Due To Zap70 Deficiency
Abnormal lymph node morphology, Hepatosplenomegaly, Eosinophilia, Recurrent viral infections, Lym... ORPHA:911
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Biliary tract abnormality, Neonatal cholestatic liver disease, Osteoporosis,... ORPHA:79301
Immunodeficiency 60 And Autoimmunity
Splenomegaly, Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count OMIM:618394
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Anemia, Opportunistic infection, Decreased circulating total IgM, Weight los... ORPHA:90362
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Lymphopenia OMIM:207731
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly OMIM:618892
Beta-Thalassemia
Anemia, Hepatitis, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Abnormal hemoglobin, Splenomeg... ORPHA:848
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Jaundice, Portal fibrosis, Hepatomegaly, Iron deficiency anemia, Portal hyperte... OMIM:616278
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Anemia, Splenomegaly, Hepatomegaly OMIM:618107
Kimura Disease
Lymphadenopathy, Follicular hyperplasia, Increased circulating IgE level, Eosinophilia ORPHA:482
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Decreased T cell activation, Perianal abscess, Defective T cell proliferation, Increased circulat... OMIM:618213
Interstitial Lung And Liver Disease
Anemia, Hepatic fibrosis, Cirrhosis, Hepatic steatosis, Thrombocytosis, Hepatomegaly, Cholestasis OMIM:615486
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Poikilocytosis, Decreased mean corpuscular volume, Hepatomegaly, Elevated hepatic iron co... OMIM:615234
Selective Igm Deficiency
Recurrent vulvovaginal candidiasis, Recurrent sinusitis, Decreased proportion of CD4-positive T c... ORPHA:331235
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells OMIM:619693
Aicardi-Goutieres Syndrome 4
Pancytopenia, Hepatosplenomegaly, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:610333
Autoinflammatory Disease, Systemic, X-Linked
Neutropenia, B lymphocytopenia, Hepatosplenomegaly OMIM:301081
Erythrocytosis, Familial, 1
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly OMIM:133100
Infantile Myofibromatosis
Fibroma, Benign neoplasm of the central nervous system, Sarcoma, Neoplasm of the pancreas, Gingiv... ORPHA:2591
Castleman Disease
Anemia, Jaundice, Generalized lymphadenopathy, Myelofibrosis, Decreased mean corpuscular volume, ... ORPHA:160
Follicular Lymphoma
Lymphoma, Abnormality of the peritoneum, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly ORPHA:545
S├ęzary Syndrome
Lymphoma, Neoplasm of the skin, Abnormal immunoglobulin level, Lymphadenopathy, Hepatomegaly, Cut... ORPHA:3162
Infantile Sialic Acid Storage Disease
Metaphyseal irregularity, Nephrotic syndrome, Failure to thrive, Hepatomegaly, Cardiomegaly, Vacu... OMIM:269920
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Pancreatitis, Hepatomegaly, Thrombocytopenia, Neutropenia, Splenomegaly ORPHA:79312
Autoerythrocyte Sensitization Syndrome
Abnormal erythrocyte morphology, Impaired platelet adhesion, Thrombocytosis, Autoimmune thrombocy... ORPHA:324636
Li-Fraumeni Syndrome
Acute myeloid leukemia, Neoplasm of the gastrointestinal tract, Neoplasm of the central nervous s... ORPHA:524
Immunodeficiency 25
Autoimmune hemolytic anemia, T lymphocytopenia, Eosinophilia OMIM:610163
Autoimmune Hemolytic Anemia
Lymphoma, Splenomegaly, Abnormal leukocyte morphology, Hemolytic anemia ORPHA:98375
Brucellosis
Leukopenia, Anemia, Abnormality of the liver, Liver abscess, Hypersplenism, Granuloma, Lung absce... ORPHA:1304
Elliptocytosis 1
Elliptocytosis, Splenomegaly, Hemolytic anemia, Jaundice OMIM:611804
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Bone Marrow Failure Syndrome 6
Anemia, Lymphopenia, Persistence of hemoglobin F, Bone marrow hypocellularity, Increased mean cor... OMIM:618849
Neuraminidase Deficiency
Urinary excretion of sialylated oligosaccharides, Epiphyseal stippling, Increased urinary O-linke... OMIM:256550
Diamond-Blackfan Anemia 1
Reticulocytopenia, Myelodysplasia, Colon cancer, Thrombocytosis, Osteosarcoma, Thrombocytopenia, ... OMIM:105650
Gaucher Disease, Type Iii
Thrombocytopenia, Splenomegaly, Pancytopenia, Hepatomegaly OMIM:231000
Trichohepatoenteric Syndrome 1
Splenomegaly, Hepatic fibrosis, Cirrhosis, Abnormality of the pancreas, Decreased circulating ant... OMIM:222470
Pyruvate Kinase Deficiency Of Red Cells
Jaundice, Erythroid hyperplasia, Reticulocytosis, Decreased hemoglobin concentration, Chronic hem... OMIM:266200
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Osteopenia, Hepatomegaly, Calvarial hyperostosis, Exocrine pancreatic insufficiency, An... OMIM:612714
Congenital Disorder Of Glycosylation, Type Ia
Hepatic fibrosis, Hepatic steatosis, Thrombocytosis, Decreased circulating IgA level, Hepatomegal... OMIM:212065
Cogan Syndrome
Anemia, Thrombocytosis, Leukocytosis ORPHA:1467
Acute Monoblastic/Monocytic Leukemia
Anemia, Lymphocytosis, Cervical lymphadenopathy, Acute monocytic leukemia, Leukocytosis, Hypochro... ORPHA:514
Sickle Cell Disease
Cholelithiasis, Splenomegaly, Hemolytic anemia, Target cells, Splenic infarction, Jaundice, Leuko... OMIM:603903
Omenn Syndrome
Lymphoma, Anemia, Lymphadenopathy, Leukocytosis, Eosinophilia, Hepatomegaly, Splenomegaly, Abnorm... ORPHA:39041
Wolman Disease
Anemia, Bone-marrow foam cells, Hepatomegaly, Ascites, Splenomegaly ORPHA:75233
Amed Syndrome, Digenic
Acute myeloid leukemia, Leukopenia, Anemia, Failure to thrive, Bone marrow hypocellularity, Throm... OMIM:619151
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, B lymphocytopenia ORPHA:70593
Felty Syndrome
Lymphoma, Anemia, Osteolysis, Lymphadenopathy, Bone marrow hypocellularity, Hepatomegaly, Thrombo... ORPHA:47612
Hepatoportal Sclerosis
Leukopenia, Anemia, Nodular regenerative hyperplasia of liver, Periportal fibrosis, Hypersplenism... ORPHA:64743
Immunodeficiency 55
Lymphopenia, Lymphadenopathy, Recurrent infections, Neutropenia, Absent natural killer cells OMIM:617827
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic fibrosis, Jaundice, Hepatic bridging fibrosis, Cholestasis, Splenomegaly OMIM:619658
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Ascites, Anemia, Splenomegaly ORPHA:1046
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Severe B lymphocytopenia, Autoimmune... OMIM:102700
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn... OMIM:615607
Maffucci Syndrome
Breast carcinoma, Astrocytoma, Parathyroid adenoma, Neoplasm of the parathyroid gland, Neoplasm o... ORPHA:163634
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
Cold Agglutinin Disease
Splenomegaly, Lymphadenopathy, Hemolytic anemia, Hepatomegaly ORPHA:56425
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Hepatomegaly, Portal hyperte... OMIM:619463
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly, Hepatomegaly ORPHA:163596
Gastrointestinal Stromal Tumor
Neoplasm of the stomach, Anemia, Abnormality of the liver, Neoplasm of the gastrointestinal tract... ORPHA:44890
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Single lineage myelodysplasia, Abnormal mean corpuscular volume, Multiple... ORPHA:86839
Cholestasis-Lymphedema Syndrome
Multiple lipomas, Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal choles... ORPHA:1414
Immunodeficiency, Common Variable, 8, With Autoimmunity
Generalized lymphadenopathy, Recurrent sinusitis, Thrombocytopenia, Splenomegaly, Sepsis, Decreas... OMIM:614700
Griscelli Syndrome
Leukopenia, Hepatitis, Jaundice, Abnormality of neutrophils, Lymphadenopathy, Bone marrow hypocel... ORPHA:381
Aregenerative Anemia
Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni... ORPHA:101096
Congenital Toxoplasmosis
Anemia, Jaundice, Lymphadenopathy, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Failure to thriv... ORPHA:858
Dyskeratosis Congenita, Autosomal Recessive 8
Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity, Pancytopenia OMIM:620133
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Jaund... OMIM:194380
Tularemia
Anemia, Brain abscess, Increased circulating antibody level, Cutaneous abscess, Abnormal nasophar... ORPHA:3392
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Neoplasm of the skin... ORPHA:3261
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Acholic stools, Portal fibrosis, Hepatomegaly, Splenomegaly OMIM:619868
Amyloidosis, Familial Visceral
Splenomegaly, Cholestasis, Hepatomegaly OMIM:105200
Coproporphyria, Hereditary
Jaundice, Splenomegaly, Hepatomegaly OMIM:121300
Gaucher Disease Type 2
Splenomegaly, Hepatomegaly ORPHA:77260
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Neonatal cholestatic liver disease, Hepatomegaly, Splenomegaly OMIM:214900
Immunodeficiency 40
T lymphocytopenia, Eosinophilic granuloma, Hepatomegaly, Thrombocytopenia, Macrovesicular hepatic... OMIM:616433
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Esophageal carcinoma, Papillary thyroid carcinoma, Breast carcinoma, As... ORPHA:247806
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Increased circulating antibody level, Lymphopenia, Failure to thrive, Lymphadenopathy, Re... OMIM:617591
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po... OMIM:224120
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatic fibrosis, Splenomegaly, Hepatomegaly, Hepatic bridging fibrosis OMIM:616719
Farber Lipogranulomatosis
Splenomegaly, Hepatomegaly, Lipogranulomatosis OMIM:228000
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly, Increased variability in muscle fiber diameter, Failur... OMIM:614096
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Anemia, Brain abscess, Abnormality of the pancreas, Weight loss, ... ORPHA:54251
Thrombocytopenia-Absent Radius Syndrome
Short phalanx of finger, Atrioventricular canal defect, Absent thumb, Coxa valga, Hip dislocation... OMIM:274000
Glycogen Storage Disease Ixb
Increased hepatic glycogen content, Splenomegaly, Hepatomegaly OMIM:261750
Terminal Osseous Dysplasia
Fibroma, Abnormal hand bone ossification, Abnormal foot bone ossification, Abnormal bone structure OMIM:300244
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Decreased circulating tot... OMIM:614699
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Hepatocellular carcinoma, Splenomegaly OMIM:613490
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly of finger, Hallux valgus, Elbow flexion contracture, Camptodactyly, Hepatosplenomeg... OMIM:602782
Pfapa Syndrome
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:42642
Acquired Ichthyosis
Lymphoma, Sarcoma, Multiple myeloma, Neoplasm ORPHA:454
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Left ventricular hypertrophy, Myopathy, Hepatomegaly, Cardiomegaly, Cardiomyo... OMIM:617713
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
B lymphocytopenia OMIM:614069
Gaucher Disease Type 1
Leukopenia, Anemia, Cirrhosis, Increased circulating antibody level, Hypersplenism, Increased bon... ORPHA:77259
Gardner Syndrome
Neoplasm of the pancreas, Hepatoblastoma, Esophageal carcinoma, Papillary thyroid carcinoma, Brea... ORPHA:79665
Pseudo-Torch Syndrome 3
Lymphadenitis, Anemia, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia OMIM:618886
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Perianal abscess, Impaired neutrophil chemotaxis, Coronal craniosynostosi... ORPHA:2968
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Prolonged neonatal jaundice, Lymphadenopathy, Bone-marrow foam cells, Hep... OMIM:257200
Nephronophthisis 19
Hepatic fibrosis, Malformation of the hepatic ductal plate, Bile duct proliferation, Cholestasis,... OMIM:616217
Aicardi Syndrome
Hemangioma, Carcinoma, Teratoma, Hepatoblastoma, Lipoma, Metastatic angiosarcoma OMIM:304050
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Fibro-obliterative ... OMIM:619849
Lysosomal Acid Lipase Deficiency
Leukopenia, Anemia, Hepatic fibrosis, Cirrhosis, Periportal fibrosis, Increased hepatic echogenic... OMIM:278000
Adult-Onset Still Disease
Hepatitis, Neutrophilia, Generalized lymphadenopathy, Bone marrow hypocellularity, Leukocytosis, ... ORPHA:829
Hereditary Chronic Pancreatitis
Recurrent pancreatitis, Jaundice, Pancreatic calcification, Leukocytosis ORPHA:676
Congenital Disorder Of Glycosylation, Type Iio
Cirrhosis, Hepatosplenomegaly, Hepatomegaly, Cholestatic liver disease, Prolonged neonatal jaundi... OMIM:616828
Cholesteryl Ester Storage Disease
Jaundice, Cirrhosis, Splenomegaly, Hepatomegaly ORPHA:75234
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Increased c... OMIM:617099
Dehydrated Hereditary Stomatocytosis
Intermittent jaundice, Increased mean corpuscular hemoglobin concentration, Congenital hemolytic ... ORPHA:3202
Joubert Syndrome 33
Splenomegaly OMIM:617767
Cronkhite-Canada Syndrome
Stomach cancer, Anemia, Gastrointestinal carcinoma, Intestinal polyposis, Colon cancer, Neoplasm,... ORPHA:2930
Cinca Syndrome
Abnormality of thrombocytes, Anemia, Abnormal granulocyte morphology, Abnormality of neutrophils,... ORPHA:1451
Gaucher Disease, Type I
Anemia, Hypersplenism, Multiple myeloma, Pancytopenia, Hepatomegaly, Thrombocytopenia, Splenomegaly OMIM:230800
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
B lymphocytopenia, Sideroblastic anemia, Hypochromic microcytic anemia, Schistocytosis, Splenomegaly OMIM:616084
Autoimmune Hemolytic Anemia, Warm Type
Chronic lymphatic leukemia, Jaundice, Autoimmune hemolytic anemia, Lymphoproliferative disorder, ... ORPHA:90033
Fish-Eye Disease
Lymphadenopathy, Splenomegaly, Hepatomegaly ORPHA:79292
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Bone marrow hypocellularity, Abnormally low T cell receptor excision circle level, Pancytopenia, ... OMIM:619767
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Severe infection, Hepatitis, Coombs-positive hemolytic anemia, Autoimmune thrombocytopeni... OMIM:304790
Progressive Osseous Heteroplasia
Sarcoma, Ectopic ossification in muscle tissue ORPHA:2762
Anemia, Congenital Dyserythropoietic, Type Iv
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... OMIM:613673
Satoyoshi Syndrome
Genu varum, Tapered finger, Abnormality of the humerus, Abnormality of the ovary, Abnormality of ... ORPHA:3130
Lipodystrophy, Congenital Generalized, Type 3
Hepatic steatosis, Splenomegaly, Hepatomegaly, Hepatosplenomegaly OMIM:612526
Fetal Gaucher Disease
Pancytopenia, Thrombocytopenia, Hepatomegaly, Abnormality of the spleen, Splenomegaly ORPHA:85212
Cantu Syndrome
Broad first metatarsal, Congenital hypertrophy of left ventricle, Coxa valga, Hypoplastic ischiop... OMIM:239850
Mevalonic Aciduria
Splenomegaly ORPHA:29
Neuroleptic Malignant Syndrome
Thrombocytopenia, Thrombocytosis, Leukocytosis ORPHA:94093
Desmoid Tumor
Fibroma, Neoplasm of the skin, Intestinal polyposis, Osteolysis, Desmoid tumors ORPHA:873
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Cardiac-Urogenital Syndrome
2-3 toe syndactyly, Ambiguous genitalia, Cor triatrium sinister, Pericardial effusion, Patent ura... OMIM:618280
Neonatal Lupus Erythematosus
Anemia, Abnormality of the liver, Neutropenia, Hemolytic anemia, Pancytopenia, Cholestasis, Hepat... ORPHA:398124
Ovarian Fibrothecoma
Fibrosarcoma, Diffuse leiomyomatosis, Peritonitis, Ascites, Ovarian fibroma ORPHA:314478
Common Variable Immunodeficiency
Abnormality of the liver, Hemolytic anemia, Decreased circulating antibody level, Recurrent bronc... ORPHA:1572
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Ectodermal Dysplasia-Syndactyly Syndrome 2
Syndactyly, Cardiomegaly, Palmoplantar keratoderma OMIM:613576
Congenital