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Gene: Dclre1c MGI:2441769

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
DNA cross-link repair 1C
Synonyms:
9930121L06Rik,  Artemis,  Art

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Dclre1c 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 Dclre1c by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Inc... OMIM:602450
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... ORPHA:275
Omenn Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp... ORPHA:39041

The table below shows human diseases predicted to be associated to Dclre1c by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level, Recurrent bacterial infections, Recurrent can... OMIM:242870
Immunodeficiency 24
Lymphopenia, Decreased CD4:CD8 ratio, Recurrent viral infections, Decreased circulating IgG2 leve... OMIM:615897
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Recurrent infections OMIM:606445
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Recurrent infection... OMIM:616452
Immunodeficiency 79
Decreased proportion of CD4-positive T cells OMIM:619238
Immunodeficiency 62
Autoimmune thrombocytopenia, Severe recurrent varicella, Recurrent upper respiratory tract infect... OMIM:618459
Immunodeficiency 18
Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu... OMIM:615615
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... OMIM:613500
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... OMIM:619707
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Immunodeficiency 50
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib... OMIM:300988
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... OMIM:613493
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Recurrent respiratory infections, Decreased circulating total IgM, B lymphocytopenia, Abnormally ... OMIM:618987
Agammaglobulinemia 8A, Autosomal Dominant
B lymphocytopenia OMIM:616941
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia OMIM:610798
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:612692
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia, Neutropenia, Reduced ... OMIM:615214
Okt4 Epitope Deficiency
Abnormal T cell morphology OMIM:613949
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... OMIM:615513
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... OMIM:300400
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Recurrent upp... OMIM:618944
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Monocytosi... OMIM:619281
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells OMIM:312863
Immunodeficiency 102
Decreased circulating IgG level, Increased circulating interleukin 6 concentration, Partial absen... OMIM:301082
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Recurrent infections, Decr... OMIM:615592
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... OMIM:613501
Immunodeficiency 11A
Recurrent respiratory infections, Decreased proportion of CD4+CD25+ regulatory T cells, Decreased... OMIM:615206
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Failure to thrive OMIM:269840
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia OMIM:616873
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Histiocytosis, Familial Lipochrome
Recurrent infections, Increased circulating antibody level, Histiocytosis OMIM:235900
Immunodeficiency, Common Variable, 1
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neut... OMIM:607594
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Chronic oral candidias... OMIM:212050
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Recurrent... OMIM:617765
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... OMIM:617585
Immunodeficiency 19
T lymphocytopenia, Failure to thrive, Abnormal B cell morphology, Abnormal natural killer cell mo... OMIM:615617
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Immunoglobulin A Deficiency 2
Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Recurrent infection of the ga... OMIM:609529
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency 95
Recurrent respiratory infections, Lymphopenia, Decreased circulating IgG3 level, Increased circul... OMIM:619773
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt... ORPHA:331206
Lymphoproliferative Syndrome 3
Decreased circulating antibody level, Recurrent infections, Hepatosplenomegaly, Partial absence o... OMIM:618261
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Recurrent respiratory infections, T lymphocytopenia, Decreased c... OMIM:619510
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Immunodeficiency 68
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Inc... OMIM:602450
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, B lymphocytopenia OMIM:601457
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... OMIM:150550
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... OMIM:611926
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... OMIM:619846
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating total Ig... OMIM:619774
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira... OMIM:310350
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eosinophilia, Recurrent viral infections, Increased circulati... OMIM:243700
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ... ORPHA:277
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... OMIM:619802
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... OMIM:619705
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Recurrent upper respiratory tract infections, Recurrent candida infections, Decreased circulating... OMIM:614069
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Failure to thrive in infancy, Small for gestational age, Decreased proportion of CD8-positive T c... OMIM:617241
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells OMIM:620282
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Recurrent mycobacterial infections, Increased T cell count, Increa... ORPHA:98813
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Immunodeficiency 57 With Autoinflammation
Perianal abscess, T lymphocytopenia, Reduced natural killer cell count, B lymphocytopenia OMIM:618108
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Recurrent infections, Neutropenia OMIM:617014
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Hepatomegaly, Decreased proportion of naive T cells, Abnormal im... ORPHA:276
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Immunodeficiency 104
Splenomegaly, Failure to thrive secondary to recurrent infections, T lymphocytopenia OMIM:608971
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Recurrent candida infections, T lymphocytopenia, Increased circulatin... ORPHA:169154
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Decreased circulating total IgM, ... OMIM:618394
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... ORPHA:2643
Immunodeficiency 54
Chromosome breakage, Hepatomegaly, Splenomegaly, Lymphadenopathy, Adrenocorticotropic hormone exc... OMIM:609981
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... ORPHA:35078
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Increased circulating IgE level, Recurrent upper respiratory tract infections, Recur... OMIM:619752
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Immunodeficiency 20
Recurrent respiratory infections, Reduced natural killer cell activity, Recurrent viral upper res... OMIM:615707
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Monocytosis, Incr... ORPHA:2688
Whim Syndrome 1
Recurrent upper respiratory tract infections, Decreased circulating antibody level, Recurrent bac... OMIM:193670
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Recurrent respiratory infections, Recurrent urinary tract infect... OMIM:620210
Immunodeficiency 46
Recurrent sinopulmonary infections, Chronic oral candidiasis, Intermittent thrombocytopenia, Seps... OMIM:616740
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... OMIM:202700
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Recurrent infections, De... OMIM:616098
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:614082
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Chronic (near... OMIM:614699
Neutropenia-Monocytopenia-Deafness Syndrome
Abnormal macrophage morphology, Abnormality of neutrophils ORPHA:2690
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Recurrent up... OMIM:616100
Histiocytosis, Progressive Mucinous
Mucinous histiocytosis OMIM:142630
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Lymp... OMIM:618982
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells OMIM:619693
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, B lymphocytopenia ORPHA:217390
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Recurrent respiratory infections, Pancytopenia, Decreased lympho... OMIM:618986
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections, Neutrop... OMIM:616022
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... OMIM:619126
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level OMIM:616911
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmune thrombocytopenia, Sp... OMIM:614470
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Increased proportion of transitional ... OMIM:616005
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Decreased proportion of class-switched memory B cells, Decrea... OMIM:614878
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Abnormality of chromosome stability, Pancytopenia OMIM:600546
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... OMIM:605258
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod... ORPHA:100024
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia ORPHA:397596
Whim Syndrome 2
Recurrent gingivitis, Chronic neutropenia OMIM:619407
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoimmune thromboc... OMIM:613179
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Chromosomal breakage induced by crosslink... OMIM:616435
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia OMIM:617638
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Immunodeficiency 22
Abscess, Recurrent upper respiratory tract infections, Anemia, Decreased circulating total IgM, D... OMIM:615758
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... ORPHA:2585
Kimura Disease
Eosinophilia, Follicular hyperplasia, Increased circulating IgE level, Lymphadenopathy, Abnormal ... ORPHA:482
N Syndrome
Abnormality of chromosome stability, Leukemia, Cryptorchidism OMIM:310465
Agammaglobulinemia, X-Linked
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent pneumonia, Se... OMIM:300755
Immunodeficiency 43
Decreased circulating IgG level, Recurrent respiratory infections, Lung abscess, Decreased specif... OMIM:241600
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents, Thrombocytopenia, Bone marrow hypocellularit... OMIM:617243
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level OMIM:247800
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Recurrent viral infections, Recurrent candida infections, T lymphocytopen... ORPHA:572
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemo... OMIM:301078
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... OMIM:102700
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, B lymphocytopenia, Bone marrow hypocellularity, Reduced natural killer cell count, ... OMIM:620133
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Eosinophilia, Recurrent pneumonia, Recurrent candida infections, Hepatosplenomegaly,... ORPHA:169160
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Decreas... OMIM:608106
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel... OMIM:618048
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology OMIM:615966
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections, Leukopenia, I... OMIM:615285
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, T lymphocytopenia, Abn... OMIM:615607
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Decreased sp... OMIM:617006
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Immunodeficiency, Common Variable, 11
Increased circulating IgE level, Decreased circulating IgG level, Recurrent respiratory infection... OMIM:615767
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... OMIM:600802
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... OMIM:601859
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, T-cell acute lymphoblastic leukemias, Bone marrow hypocellularity, Chromo... OMIM:605724
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced na... OMIM:308240
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Decreased circulating antibody level, ... OMIM:613101
Benign Cephalic Histiocytosis
Histiocytosis ORPHA:157997
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Recurrent bacterial infections, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease... OMIM:601495
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Re... ORPHA:436159
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Recurrent bronchopulmonary infections, Neutropenia ORPHA:90023
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents OMIM:609054
Immunodeficiency 92
Hepatomegaly, Cholangitis, Leukocytosis, Decreased proportion of class-switched memory B cells, S... OMIM:619652
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Impaired Ig class switch recombination,... OMIM:608184
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100025
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia,... OMIM:614700
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Recurrent... OMIM:617780
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Reticular Dysgenesis
Recurrent respiratory infections, Abnormality of neutrophils, Sepsis, Decreased circulating antib... ORPHA:33355
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Selective Igm Deficiency
Recurrent staphylococcal infections, Paraproteinemia, Sepsis, Recurrent cutaneous fungal infectio... ORPHA:331235
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Recurrent respiratory infections, Decreased circulating antibody level OMIM:618042
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... OMIM:603909
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary infections, Recurre... OMIM:242700
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Hemophagocytic Lymphohistiocytosis, Familial, 3
Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia OMIM:608898
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, De... OMIM:240500
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Increased circulating I... OMIM:618495
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Bone Marrow Failure Syndrome 4
Recurrent respiratory infections, Decreased circulating antibody level, Anemia, Leukopenia, Bone ... OMIM:618116
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Immunodeficiency 33
Decreased circulating total IgM, Recurrent bacterial infections, Increased circulating IgA level OMIM:300636
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... OMIM:615139
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ... OMIM:209950
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t... OMIM:275350
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... ORPHA:543
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Recurrent infections, Decreased circulating antibod... OMIM:301045
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunistic infection... ORPHA:275
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Cryptorchidism, Patent ductus ar... OMIM:620005
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM level, Anemia ORPHA:37748
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Chronic oral candidiasis, Dysgammaglobulinemia, Impaired Ig class switch recomb... OMIM:308230
Lymphoproliferative Syndrome, X-Linked, 2
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Splenomegaly, Decreased circulat... OMIM:300635
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... OMIM:613011
Papular Xanthoma
Histiocytosis ORPHA:158008
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom... OMIM:607624
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level OMIM:146830
Wiskott-Aldrich Syndrome
Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, Absent microvilli on... OMIM:301000
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Recurrent urinary tract infections, Decreased lymphocyte proliferation ... ORPHA:221139
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Immunodeficiency 67
Liver abscess, Transient neutropenia, Recurrent staphylococcal infections, Increased circulating ... OMIM:607676
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... OMIM:603552
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent respiratory infections, Pancytopenia, Recurrent enteroviral infections, Abnormal lympho... ORPHA:79124
Bare Lymphocyte Syndrome, Type Ii
Recurrent urinary tract infections, Recurrent viral infections, Recurrent upper respiratory tract... OMIM:209920
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia OMIM:152800
Trimethylaminuria
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia OMIM:602079
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Severe B lymphocytopenia, Decreased response to growth hormone stimulation test, Autoimmune throm... ORPHA:293978
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy ORPHA:157991
Primary Intestinal Lymphangiectasia
Lymphopenia, Decreased circulating antibody level, Decreased circulating total IgM, Decreased pro... ORPHA:90362
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Immunodeficiency 32B
Recurrent respiratory infections, Neutrophilia, Eosinophilia, Splenomegaly, Recurrent infections,... OMIM:226990
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, D... OMIM:615122
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... OMIM:619767
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Recurrent pneumonia, Decreased c... OMIM:616576
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph... ORPHA:507
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Immunodeficiency, Common Variable, 10
Frequent Giardia lamblia infestation, Recurrent viral upper respiratory tract infections, Recurre... OMIM:615577
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... ORPHA:98848
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia OMIM:616084
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Autoimmune thrombocytopenia, Recurrent bacterial infections, Ch... OMIM:613496
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Ataxia-Telangiectasia
Abnormality of chromosome stability, Abnormal testis morphology, Polycystic ovaries, Lymphopenia,... ORPHA:100
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Recurrent infections, Recurrent infection of the gastrointestin... OMIM:137100
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Leukopenia, T lymphocytopenia, Increa... ORPHA:443811
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... ORPHA:3261
Mirage Syndrome
Cryptorchidism, Patent ductus arteriosus, Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, De... OMIM:617053
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph... OMIM:612840
Fanconi Anemia, Complementation Group S
Chromosome breakage, Ovarian carcinoma, Anemia, Ovarian neoplasm OMIM:617883
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Gamma-A-Globulin, Defect In Assembly Of
Recurrent respiratory infections, Decreased circulating IgA level OMIM:137050
Tularemia
Brain abscess, Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal ... ORPHA:3392
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... ORPHA:508542
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Fanconi Anemia, Complementation Group Q
Chromosome breakage, Biliary atresia, Bone marrow hypocellularity OMIM:615272
Epidermodysplasia Verruciformis, Susceptibility To, 4
Increased proportion of exhausted T cells OMIM:618307
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia OMIM:610738
Sézary Syndrome
Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte m... ORPHA:3162
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec... OMIM:618935
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplastic spleen ORPHA:89844
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Immunodeficiency 32A
Lymphadenitis, Granuloma, Lymphadenopathy OMIM:614893
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Splenomegaly, Decreased circulating antibody level, Decrease... OMIM:300972
Immunodeficiency 12
Decreased lymphocyte proliferation in response to anti-CD3, Abnormal lymphocyte count, Recurrent ... OMIM:615468
Stormorken-Sjaastad-Langslet Syndrome
Asplenia, Anemia ORPHA:3204
Fanconi Anemia, Complementation Group R
Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellularity, Anemia OMIM:617244
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy, Leukopenia, Increased circulating IgG level, Increased... ORPHA:83313
Icf Syndrome
Anemia, Abnormality of chromosome stability, Lymphopenia, Abnormality of neutrophils ORPHA:2268
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:2584
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Lymphadenopathy OMIM:611762
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Recurrent respiratory infections, Recurrent urinary tract infections, Liver abscess, Recurrent up... ORPHA:183675
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, B lymphocytopenia, C... ORPHA:83617
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Failure to thrive, Reduced natural killer cell count OMIM:242860
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eosinophilia, Increased circulating IgE level, Recurrent pneumo... OMIM:618282
Lymphedema, Primary, With Myelodysplasia
Acute myeloid leukemia, Pancytopenia, Decreased CD4:CD8 ratio, Leukemia OMIM:614038
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Dec... ORPHA:381
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Bone marrow hypocellularity, Decreased circulating antibody level OMIM:615190
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent viral infections, Recurrent upper respiratory tract infect... OMIM:614868
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Chromosome breakage, Pancytopenia, Aplastic anemia, Pancreatic steatosis,... OMIM:617052
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... ORPHA:3226
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Chromosomal breakage induced by crosslinki... OMIM:603467
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Immunodeficiency 40
Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia, Reduced antigen-specific T cell p... OMIM:616433
Congenital Disorder Of Glycosylation, Type Iic
Bronchiolitis, Neutrophilia, Recurrent otitis media, Reduction of neutrophil motility OMIM:266265
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Abnormality of tumor necrosis factor secretion... ORPHA:158061
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Dyskeratosis Congenita, Digenic
Recurrent infections, Decreased circulating total IgM, Decreased circulating IgG level, Anemia, D... OMIM:620040
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu... OMIM:618849
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph... ORPHA:54251
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:97290
Familial Papillary Or Follicular Thyroid Carcinoma
Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:319487
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Hereditary Folate Malabsorption
Recurrent respiratory infections, Pancytopenia, Recurrent urinary tract infections, Eosinophilia,... ORPHA:90045
Fanconi Anemia, Complementation Group E
Pancytopenia, Chromosomal breakage induced by crosslinking agents, Cryptorchidism, Reticulocytope... OMIM:600901
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Fanconi Anemia, Complementation Group N
Aplastic anemia, Chromosomal breakage induced by crosslinking agents OMIM:610832
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent infection of the gastrointestinal tract, Recurrent urinary tract infections, Decreased ... ORPHA:83471
Acquired Partial Lipodystrophy
Decreased circulating complement C3 concentration, Lymphocytosis ORPHA:79087
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... ORPHA:158057
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Increased circulati... OMIM:617099
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Bone marrow hypocellularity, Chromosomal b... OMIM:609053
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Fanconi Anemia, Complementation Group P
Chromosomal breakage induced by crosslinking agents, Pancytopenia, Anemia, Cryptorchidism OMIM:613951
Classic Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Decreased response to growth hormone stimulation test, Absent circulating B cells OMIM:307200
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Roifman Syndrome
Eosinophilia, Decreased circulating antibody level, Lymphadenopathy, Hepatosplenomegaly, Decrease... ORPHA:353298
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Fanconi Anemia, Complementation Group A
Pancytopenia, Chromosomal breakage induced by crosslinking agents, Cryptorchidism, Reticulocytope... OMIM:227650
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:42642
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Recurrent urinary tract inf... ORPHA:125
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Lymphadenopathy... ORPHA:98850
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... ORPHA:391487
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Anemia, Reduced natural killer ... OMIM:616050
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Increased circulat... ORPHA:508533
Gracile Bone Dysplasia
Asplenia, Hypoplastic spleen OMIM:602361
Congenital Toxoplasmosis
Hepatomegaly, Jaundice, Lymphadenopathy, Anemia, Thrombocytopenia ORPHA:858
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Hepatitis, Lymphadeno... OMIM:304790
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infec... OMIM:615952
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia, Recurr... ORPHA:486
Immunodeficiency 23
Hemolytic anemia, Recurrent respiratory infections, Eosinophilia, Abscess, Recurrent staphylococc... OMIM:615816
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Abnormal T cell morphology OMIM:215250
Fanconi Anemia, Complementation Group C
Pancytopenia, Chromosomal breakage induced by crosslinking agents, Cryptorchidism, Reticulocytope... OMIM:227645
Cinca Syndrome
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia OMIM:607115
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Gastrointestinal hemorrhage, Pancytopenia, Portal hypertension, Retinal telangiectasia, Bone marr... OMIM:617341
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsillitis, Peritoniti... ORPHA:2686
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk... ORPHA:824
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Increased circulating antibody level, Lympho... OMIM:617591
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Decreased circulating antibody level, Lymphadenopathy, Hepatosplenomegaly OMIM:619750
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Obesity Due To Congenital Leptin Deficiency
Decreased proportion of CD4-positive helper T cells, Obesity, Orthostatic hypotension due to auto... ORPHA:66628
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Decreased circulating antibody level, Recurrent infections, Dec... ORPHA:90363
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Splenomegaly, Recurrent infections, Decreased circulating ... OMIM:619381
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Asplenia OMIM:618948
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess ORPHA:100083
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Decreased circulating IgG lev... OMIM:612301
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sepsis, Recurrent infections, Agammaglobulinemia, Neutropenia ORPHA:33110
Maternal Uniparental Disomy Of Chromosome 1
Pancytopenia, Panhypogammaglobulinemia, Recurrent infections ORPHA:251009
Cold Agglutinin Disease
Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy ORPHA:56425
Lig4 Syndrome
Hepatomegaly, Pancytopenia, Abnormality of chromosome stability, Cryptorchidism, Leukocytosis, Ly... ORPHA:99812
Fragile X Syndrome
Macroorchidism, postpubertal, Folate-dependent fragile site at Xq28, Congenital macroorchidism OMIM:300624
Obesity Due To Leptin Receptor Gene Deficiency
Decreased proportion of CD4-positive helper T cells, Obesity, Orthostatic hypotension due to auto... ORPHA:179494
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Nijmegen Breakage Syndrome
T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia OMIM:251260
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Systemic Capillary Leak Syndrome
Pericarditis, Myocarditis, Leukocytosis, Weight loss, Hypotension, Arrhythmia ORPHA:188
Relapsing Fever
Tachycardia, Neutrophilia, Epistaxis, Leukocytosis, Anemia, Leukopenia, Hypotension, Thrombocytop... ORPHA:91547
Acute Radiation Syndrome
Telangiectasia, Granulocytopenia, Hypotension, Lymphopenia, Thrombocytopenia ORPHA:454831
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Abnormal cytokine signaling, Ane... ORPHA:158048
Dengue Fever
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Leukopenia, Hypotension, Thrombocyto... ORPHA:99828
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-posit... OMIM:614034
Macrocephaly/Autism Syndrome
Splenomegaly, Recurrent infections, Decreased circulating antibody level, Recurrent otitis media,... OMIM:605309
Mogs-Cdg
Decreased circulating antibody level, Hepatosplenomegaly, Decreased circulating total IgM, Decrea... ORPHA:79330
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent respiratory infections, Aut... OMIM:243150
Fanconi Anemia, Complementation Group O
Chromosome breakage, Cryptorchidism OMIM:613390
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H... OMIM:263400
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Reduced natural killer cell activity, Splenomegaly, Jaundice, Lymphadenopathy, Anem... ORPHA:540
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Decreased circulati... ORPHA:1572
Felty Syndrome
Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Bone marrow hypocellularity, Neutr... ORPHA:47612
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Fanconi Anemia, Complementation Group D2
Pancytopenia, Chromosomal breakage induced by crosslinking agents, Cryptorchidism, Patent ductus ... OMIM:227646
Hermansky-Pudlak Syndrome 2
Chronic oral candidiasis, Absent platelet dense granules, Decreased CD4:CD8 ratio, Reduced natura... OMIM:608233
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level OMIM:616910
Omenn Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp... ORPHA:39041
Papa Syndrome
Increased circulating antibody level, Lymphadenopathy ORPHA:69126
Alg12-Cdg
Cryptorchidism, Patent ductus arteriosus, B lymphocytopenia, Thrombocytopenia ORPHA:79324
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Rhabdoid Tumor
Neoplasm of the liver, Thrombocytopenia, Anemia, Lymphadenopathy ORPHA:69077
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Elevated hemoglobin A1c, Cryptorchidism... OMIM:210900
Netherton Syndrome
Recurrent respiratory infections, Increased circulating IgE level, Hypereosinophilia, Sepsis, Dec... OMIM:256500
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Neuronal Intestinal Pseudoobstruction
Recurrent infections, Decreased circulating antibody level ORPHA:99811
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Abnormality of the spleen, Myeloproliferative disorder, Lymphocytosi... ORPHA:79456
Ataxia-Telangiectasia
Decreased circulating IgG level, Recurrent bronchitis, Decreased circulating IgG2 level, Acute ly... OMIM:208900
Fragile X Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28 ORPHA:908
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Recurrent infections, Chronic neutropenia, Neutropenia OMIM:258360
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent pneumonia, Sepsis, Agammaglobulinemia, Anemia, N... ORPHA:47
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Recurrent infections, Neutropenia OMIM:617827
Hypoglossia With Situs Inversus
Asplenia, Polysplenia OMIM:612776
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy, Recurrent infections OMIM:251240
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Thrombocytopenia,... OMIM:603553
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased body weight, Anemia OMIM:614450
Niemann-Pick Disease, Type A
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ... OMIM:257200
Immunodeficiency 59 And Hypoglycemia
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:233600
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgA level, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphad... OMIM:260920
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi... ORPHA:83469
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Recurrent infections, Anemia, Bone marrow hypocellularity, Neutr... ORPHA:88
Sting-Associated Vasculopathy, Infantile-Onset
Follicular hyperplasia, Increased circulating IgA level, Paratracheal lymphadenopathy, Leukopenia... OMIM:615934
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Necrotizing Enterocolitis
Shock, Small for gestational age, Leukocytosis, Bradycardia, Hypotension, Neutropenia, Thrombocyt... ORPHA:391673
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Obesity, Large for gestational age OMIM:240900
Congenital Disorder Of Glycosylation, Type Ig
Recurrent pneumonia, Recurrent upper respiratory tract infections, Decreased circulating total Ig... OMIM:607143
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Recurrent respiratory infections, Lymphopenia, Anemia ORPHA:935
Fanconi Anemia, Complementation Group L
Chromosome breakage, Chromosomal breakage induced by crosslinking agents, Bone marrow hypocellula... OMIM:614083
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent lower respiratory tract infections, Decreased circulating IgA level, Decreased circulat... OMIM:617744
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem... ORPHA:514
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis, Hepatitis, B... ORPHA:829
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... ORPHA:169105
Systemic Lupus Erythematosus 17
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, Lymphadenopathy, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, T... OMIM:619644
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Recurrent infections, Eosinophilia, Decreased circulating antibody level OMIM:617425
Roifman Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Lymphadenopathy OMIM:616651
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, T... OMIM:214500
X-Linked Immunoneurologic Disorder
Recurrent respiratory infections, Decreased circulating IgG2 level ORPHA:2571
Pearson Syndrome
Hypoparathyroidism, Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Decreased r... ORPHA:699
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,... ORPHA:86843
Whim Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Sepsis, Abnormal neutrophil mo... ORPHA:51636
Congenital Enterovirus Infection
Abnormal macrophage morphology, Myocarditis, Leukocytosis, Anemia, Leukopenia, Cardiomyopathy, Hy... ORPHA:292
Fanconi Anemia, Complementation Group B
Patent ductus arteriosus, Abnormality of chromosome stability, Aplastic anemia, Thrombocytopenia OMIM:300514
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Schimke Immunoosseous Dysplasia
Pancytopenia, Abnormal immunoglobulin level, Abnormal T cell morphology, Anemia, Decreased circul... OMIM:242900
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Lymphadenopathy ORPHA:26790
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g... ORPHA:1451
Vici Syndrome
Decreased circulating IgG level, Recurrent respiratory infections, Recurrent viral infections, De... OMIM:242840
Legionnaires Disease
Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Lymphopenia, Pan... ORPHA:549
Microphthalmia, Syndromic 9
Patent ductus arteriosus, Cryptorchidism, Hypoplastic spleen, Multilobulated spleen OMIM:601186
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:85414
Mevalonic Aciduria
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Fluctuating hepatomegaly, Thrombocytopen... OMIM:610377
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Igg4-Related Submandibular Gland Disease
Eosinophilia, Cholangitis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Increased ... ORPHA:449432
Progeria-Short Stature-Pigmented Nevi Syndrome
T lymphocytopenia, Small for gestational age, Supraventricular arrhythmia, Microcytic anemia ORPHA:2959
Snakebite Envenomation
Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral ischemia, Hypote... ORPHA:449285
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Folate-dependent fragile site at Xq28, Elevated circulating growth hormone concen... ORPHA:85327
Staphylococcal Necrotizing Pneumonia
Shock, Neutrophilia, Leukocytosis, Leukopenia, Hypotension ORPHA:36238
Bone Marrow Failure Syndrome 5
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level OMIM:618165
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Recurrent respiratory infections, Increased circulating interleukin 6 concentration, Perianal abs... OMIM:301074
Hemochromatosis, Type 3
Lymphopenia, Cirrhosis, Anemia, Neutropenia OMIM:604250
Hereditary Orotic Aciduria
Splenomegaly, Patent ductus arteriosus, Impaired T cell function, Anemia ORPHA:30
Immunodeficiency 27B
Generalized lymphadenopathy OMIM:615978
Pneumocystosis
Chronic oral candidiasis, Increased circulating antibody level, Abnormal neutrophil count ORPHA:723
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Decreased circulating antibody level, Recurrent infections, Iron deficiency anemia, Thrombocytosi... OMIM:226300
Noonan Syndrome 12
Lymphopenia, Decreased response to growth hormone stimulation test, Thrombocytopenia OMIM:618624
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Mucopolysaccharidosis-Plus Syndrome
Recurrent respiratory infections, Splenomegaly, Recurrent bronchopulmonary infections, Recurrent ... OMIM:617303
Immunodeficiency 56
Recurrent respiratory infections, Recurrent pneumonia, Recurrent infections, Panhypogammaglobulin... OMIM:615207
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypertension, Anemia OMIM:611489
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy ORPHA:33276
Acute Promyelocytic Leukemia
Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Leukopenia, Neutropenia, Anemia ORPHA:520
Fanconi Anemia, Complementation Group U
Chromosome breakage, Patent ductus arteriosus OMIM:617247
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Peritonitis, Increased circulating IgA level, Lymphadenopathy ORPHA:343
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Thrombocytopenia ORPHA:169090
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Lymphadenopa... ORPHA:29073
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Leukopenia, Hemophagocyt... OMIM:267700
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... ORPHA:74
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Lymphadenopathy, Hep... OMIM:615688
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, Raynaud phenomenon, T lymphocytopenia, Neutropenia, Lymphopenia OMIM:607944
Revesz Syndrome
Abnormality of chromosome stability, Aplastic anemia, Bone marrow hypocellularity OMIM:268130
Immunodeficiency 58
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Recurrent respiratory infec... OMIM:618131
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Large for gestational age, Anemia, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:614520
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
T lymphocytopenia, Abnormal B cell morphology, Pulmonic stenosis, Aplasia of the thymus OMIM:618223
Riddle Syndrome
Recurrent viral infections, Recurrent pneumonia, Decreased circulating total IgM, Recurrent sinus... ORPHA:420741
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Alopecia Antibody Deficiency
Recurrent respiratory infections, Decreased circulating antibody level ORPHA:1006
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocyt... ORPHA:1332
Autoimmune Polyendocrinopathy Type 4
Macrocytic anemia, Autoimmune thrombocytopenia, Biliary cirrhosis, Hepatitis, Thymoma, Anterior p... ORPHA:227990
Sepsis In Premature Infants
Tachycardia, Small for gestational age, Splenomegaly, Leukocytosis, Anemia, Bradycardia, Hypotens... ORPHA:90051
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:306400
Autoimmune Polyendocrinopathy Type 3
Macrocytic anemia, Autoimmune hypoparathyroidism, Autoimmune thrombocytopenia, Biliary cirrhosis,... ORPHA:227982
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leuke... ORPHA:33226
Abcd Syndrome
Polycythemia, Large for gestational age OMIM:600501
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Lymphadenopathy ORPHA:2221
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Ebola Hemorrhagic Fever
Acute pancreatitis, Hepatitis, Leukopenia, Increased circulating antibody level, Lymphopenia, Thr... ORPHA:319218
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Thyroid Lymphoma
Goiter, Lymphadenopathy ORPHA:97285
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia ORPHA:293173
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Castleman Disease
Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Thrombocytopeni... ORPHA:160
Beta-Ketothiolase Deficiency
Leukocytosis, Weight loss, Hypertension, Hypotension, Thrombocytosis ORPHA:134
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:3386
Generalized Pustular Psoriasis
Overweight, Leukocytosis, Lymphopenia, Obesity ORPHA:247353
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Lambert Syndrome
Decreased circulating antibody level ORPHA:1296
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Thrombocytopenia, Hepatic necrosis, Leukopenia, Increased mean corpuscular volum... OMIM:127550
Thymoma
Aplastic anemia, Pure red cell aplasia, Abnormal lymphocyte proliferation, Abnormal lymphocyte ph... ORPHA:99867
Nephroblastoma
Neoplasm of the liver, Lymphadenopathy ORPHA:654
Thymic Neuroendocrine Tumor
Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma... ORPHA:97289
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Obesity And Hypopigmentation
Overgrowth, Obesity OMIM:620195
Scrub Typhus
Splenomegaly, Lymphadenopathy ORPHA:83317
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Splenomegaly, Lymphadenitis, Leukocytosis, Cholestasis, Lymphadenopathy, Hepatic fi... OMIM:615895
Anaplastic Thyroid Carcinoma
Goiter, Nodular goiter, Lymphadenopathy ORPHA:142
Q Fever
Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatitis, Lymphadenopathy, Hepatosplenomegaly, Abn... ORPHA:781
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... OMIM:615415
Acquired Von Willebrand Syndrome
Normocytic anemia, Refractory anemia, Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxi... ORPHA:99147
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy ORPHA:99978
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424019
Mixed Connective Tissue Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leuko... ORPHA:809
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Hepatitis, Lymphocytosis, Lymphadenopathy ORPHA:139402
Trichothiodystrophy 3, Photosensitive
Bilateral cryptorchidism, Lymphopenia, Increased circulating IgA level, Neutropenia OMIM:616395
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Thrombocytopen... ORPHA:50918
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia ORPHA:93552
Colchicine Poisoning
Myocarditis, Congestive heart failure, Leukocytosis, Hypovolemia, Hypotension, Cardiogenic shock,... ORPHA:31824
Autoimmune Polyendocrine Syndrome, Type Ii
Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Iron deficiency anemia, Cirrhosis, Exocrine panc... OMIM:269200
Schimke Immuno-Osseous Dysplasia
Impaired T cell function, Abnormal lymphocyte physiology, Thrombocytopenia, Decreased proportion ... ORPHA:1830
Zika Virus Disease
Increased circulating IgM level, Thrombocytopenia ORPHA:448237
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Primary testicular failure, Abnormal lymph node morphology, Lymphadenopathy, Hepato... ORPHA:85450
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
Cowden Syndrome 1
Lymphopenia, Recurrent infections, Decreased circulating antibody level OMIM:158350
Lujo Hemorrhagic Fever
Shock, Myocarditis, Leukocytosis, Subconjunctival hemorrhage, Leukopenia, Bradycardia, Hypotensio... ORPHA:319213
Wilson Disease
Splenomegaly, Increased body weight, Weight loss, Anemia, Failure to thrive, Thrombocytopenia ORPHA:905
Obesity Due To Sim1 Deficiency
Postural hypotension with compensatory tachycardia, Obesity, Hypotension ORPHA:369873
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Splenomegaly, Thrombocytopenia, Vacuolated lymphocyt... ORPHA:167
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia OMIM:614204
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
3-Hydroxy-3-Methylglutaric Aciduria
Cardiac arrest, Leukocytosis, Dilated cardiomyopathy, Weight loss, Leukopenia, Hypotension, Throm... ORPHA:20
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Splenomegaly, Erythroid hypoplasia... OMIM:612541
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo... OMIM:617718
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal... ORPHA:1333
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia ORPHA:1302
Sweet Syndrome
Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Neutrophilia, Abnormal... ORPHA:3243
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased circulating IgG level, Hemolytic anemia, Reticulocytosis, Recurrent respiratory infecti... OMIM:618278
Xq28 (MECP2) duplication
Recurrent respiratory infections, Decreased circulating IgA level DECIPHER:45
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Impaired T cell function, Splenomegaly, Decreased specific anti-polysaccharide anti... OMIM:614576
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Increased circulating IgE... ORPHA:37042
Mannosidosis, Alpha B, Lysosomal
Splenomegaly, Vacuolated lymphocytes, Recurrent bacterial infections, Decreased circulating antib... OMIM:248500
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Poems Syndrome
Lymphadenopathy, Increased circulating antibody level, Thrombocytosis, Polycythemia, Increased ci... ORPHA:2905
Syndromic Diarrhea
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Patent ductus arteriosus, Abnormality... ORPHA:84064
Neuroendocrine Tumor Of Stomach
Tricuspid regurgitation, Right ventricular failure, Hematemesis, Weight loss, Melena, Iron defici... ORPHA:100075
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal T cell morphology, Decreased p... ORPHA:760
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Decreased circulating IgA level ORPHA:369837
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia ORPHA:1930
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating antibody level,... ORPHA:79329
Hennekam Syndrome
Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Decreased circulating antibody level, ... ORPHA:2136
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:36412
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Incre... ORPHA:244242
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Paraproteinemia... ORPHA:91139
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Cryptorchidism, Anemia, Lymphopenia, Thrombocytopenia OMIM:620365
Graft Versus Host Disease
Jaundice, Lymphadenopathy, Chronic hepatitis, Hepatosplenomegaly, Hemophagocytosis, Acute hepatitis ORPHA:39812
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight ORPHA:589905
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Decreased response to growth hormone stimulation test, Retroperitoneal fibrosis, Sp... OMIM:602782
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Macrocytic anemia, Orthostatic hypotension, Eosinophilia, Weight loss, Hypoten... ORPHA:199299
Malt Lymphoma
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:52417
Whipple Disease
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Cachexia, Splenomegaly, Myocard... ORPHA:3452
Brucellosis
Hepatomegaly, Liver abscess, Lung abscess, Hypersplenism, Splenomegaly, Leukocytosis, Thrombocyto... ORPHA:1304
Smith-Kingsmore Syndrome
Thrombocytopenia, Decreased circulating IgA level OMIM:616638
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Splenomegaly, Microvesicular hepatic steatosis, Macronodular cirr... OMIM:619418
Netherton Syndrome
Recurrent respiratory infections, Increased circulating IgE level, Recurrent infections, Decrease... ORPHA:634
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent respiratory infections, Sepsis, Hepatosplenomegaly, Anemia, Leukopenia, Increased circu... ORPHA:505248
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Abnormality of chromosome stability, Acute leukemi... ORPHA:647
Cartilage-Hair Hypoplasia
Abnormality of chromosome stability, Anemia, Neutropenia ORPHA:175
Perry Syndrome
Hypotension, Weight loss ORPHA:178509
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Weight loss, Iron deficiency a... ORPHA:100078
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Leukocyte Adhesion Deficiency Type Ii
Recurrent urinary tract infections, Neutrophilia, Microcytic anemia, Leukocytosis, Recurrent pneu... ORPHA:99843
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibrosis, Enla... ORPHA:79078
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM OMIM:618162
Acute Interstitial Pneumonia
Reduced hematocrit, Lymphadenopathy ORPHA:79126
Wolcott-Rallison Syndrome
Iron deficiency anemia, Recurrent infections, Lymphocytosis, Neutropenia ORPHA:1667
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Cachexia, Hypersplenism, Vacuolated lymphocytes, Hypovolemia, Hepatosplen... ORPHA:275761
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Carcinoid Syndrome
Chronic noninfectious lymphadenopathy, Hepatic necrosis ORPHA:100093
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Leukocytosis, Capillary leak, Intracranial hemorrhage... ORPHA:340
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Obesity, Bradycardia, ... ORPHA:66529
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight ORPHA:276608
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Obesity OMIM:618620
Lymphatic Filariasis
Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Vaginal hydrocel... ORPHA:2035
Carney Triad
Mediastinal lymphadenopathy, Pheochromocytoma, Anemia, Lymphadenopathy ORPHA:139411
Cardiofacioneurodevelopmental Syndrome
Asplenia, Cryptorchidism, Abdominal situs inversus OMIM:619123
Primary Ciliary Dyskinesia
Asplenia, Polysplenia ORPHA:244
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Recurrent respiratory infections, Pancytopenia, Hypersplenism, Splenomegaly, Decreased circulatin... OMIM:613385
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Hypotension, Mastocytosis, Arrhythmia, Failure to thrive ORPHA:2135
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Asplenia, Cholelithiasis, Hypoparathyroidism, Chronic active hepatitis OMIM:240300
Igg4-Related Ophthalmic Disease
Eosinophilia, Cholangitis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Orchitis, ... ORPHA:449563
Primary Sjögren Syndrome
Normocytic anemia, Chronic active hepatitis, Parotitis, Biliary cirrhosis, Lymphadenopathy, Chron... ORPHA:289390
Pancreatoblastoma
Jaundice, Pancreatic calcification, Abnormal lymph node morphology ORPHA:677
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Vici Syndrome
Decreased circulating IgG2 level, Decreased circulating IgG level, Recurrent respiratory infectio... ORPHA:1493
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Abnormality of chromosome stability, Thrombocytopenia... ORPHA:84
Heterotaxy, Visceral, 2, Autosomal
Asplenia, Abdominal situs inversus, Polysplenia OMIM:605376
Coccidioidomycosis
Abscess, Eosinophilia, Abnormality of the spleen, Mediastinal lymphadenopathy, Peritonitis, Lymph... ORPHA:228123
Ciliary Dyskinesia, Primary, 1
Asplenia OMIM:244400
Congenital Alveolar Capillary Dysplasia
Asplenia, Absent gallbladder, Annular pancreas, Patent ductus arteriosus ORPHA:210122
Neuroleptic Malignant Syndrome
Tachycardia, Hypertensive crisis, Pulmonary embolism, Leukocytosis, Hypertension, Bradycardia, Hy... ORPHA:94093
Farber Disease
Intrahepatic cholestasis with episodic jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly, Hep... ORPHA:333
Bacterial Toxic-Shock Syndrome
Shock, Tachycardia, Abscess, Myocarditis, Increased circulating myelocyte count, Capillary leak, ... ORPHA:36234
Fusariosis
Brain abscess, Lung abscess, Abnormality of the spleen, Peritonitis, Abnormality of the liver, Gr... ORPHA:228119
Right Atrial Isomerism
Asplenia, Abdominal situs ambiguus, Polysplenia OMIM:208530
Periodic Fever, Familial, Autosomal Dominant
Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis OMIM:142680
Say-Barber-Miller Syndrome
Transient hypogammaglobulinemia of infancy, Decreased circulating antibody level, Abnormal T cell... ORPHA:3132
Sweeney-Cox Syndrome
Asplenia, Bilateral cryptorchidism, Patent ductus arteriosus OMIM:617746
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Leukopenia, Internal hemorrhage, Neutrop... ORPHA:99827
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Hilar lymph node enlargement OMIM:620233
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Spleno... OMIM:181000
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Thr... ORPHA:31150
Tick-Borne Encephalitis
Leukocytosis, Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Abnor... ORPHA:297
H Syndrome
Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly, Decreased testicular size, Histiocytosis ORPHA:168569
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Meningioma
Enlarged pituitary gland, Reduced circulating prolactin concentration, Neoplasm of the anterior p... ORPHA:2495
Gaisböck Syndrome
Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased hematocrit, Elevated... ORPHA:90041
Marburg Hemorrhagic Fever
Shock, Lymphopenia, Reticulocytosis, Tachycardia, Pericarditis, Neutrophilia in presence of infec... ORPHA:99826
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... ORPHA:906
Mosaic Trisomy 9
Asplenia, Cryptorchidism, Patent ductus arteriosus, Abnormal liver lobulation ORPHA:99776
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Lymphadenopathy ORPHA:32960
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Increased body weight OMIM:274300
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Splenomegaly, Thromboc... OMIM:615846
Lassa Fever
Increased circulating IgM level, Sepsis ORPHA:99824
Igg4-Related Kidney Disease
Eosinophilia, Increased circulating IgG4 level, Retroperitoneal fibrosis, Lymphadenitis, Abnormal... ORPHA:449395
Chromosome 5Q12 Deletion Syndrome
Decreased body mass index, Hypotension OMIM:615668
Late-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Failure to thrive, Hypotension ORPHA:556037
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Acute Adrenal Insufficiency
Normocytic anemia, Orthostatic hypotension, Myocardial infarction, Hypovolemia, Weight loss, Hypo... ORPHA:95409
Neuroendocrine Tumor Of The Colon
Tricuspid regurgitation, Right ventricular failure, Weight loss, Melena, Palpitations, Hypotensio... ORPHA:100080
Lysinuric Protein Intolerance
Hepatosplenomegaly, Anemia, Leukopenia, Decreased circulating antibody level, Abnormality of humo... ORPHA:470
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Recurrent infections, Sepsis, Anemia, Decreased circulating antibody level ORPHA:79396
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Failure to thrive, Hypotension OMIM:264350
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Decreased circulating IgA level OMIM:212750
Early-Onset Familial Hypoaldosteronism
Orthostatic hypotension, Failure to thrive, Hypotension ORPHA:556030
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Splenomegaly, Neutrophilia, Abscess OMIM:612852
Neuroendocrine Tumor Of The Rectum
Tricuspid regurgitation, Right ventricular failure, Weight loss, Hematochezia, Melena, Palpitatio... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Tricuspid regurgitation, Right ventricular failure, Weight loss, Hematochezia, Melena, Palpitatio... ORPHA:100082
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Neutrophilia, Eosinophilia, Cholangitis, Splenomegaly, Cervical lymp... ORPHA:3260
Japanese Encephalitis
Increased circulating IgM level, Neutrophilia, Increased circulating antibody level ORPHA:79139
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Lymphadenopathy, Anemia, Hepatosplenomegaly ORPHA:85408
Corticosterone Methyloxidase Type I Deficiency
Failure to thrive, Hypotension OMIM:203400
Analbuminemia
Hypotension OMIM:616000
Trichothiodystrophy
Recurrent bronchopulmonary infections, Increased mean corpuscular hemoglobin concentration, Recur... ORPHA:33364
Lipodystrophy, Congenital Generalized, Type 4
Splenomegaly, Recurrent pneumonia, Recurrent infections, Decreased circulating IgA level OMIM:613327
Smith-Magenis Syndrome
Increased body weight OMIM:182290
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Asplenia, Patent ductus arteriosus OMIM:619657
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypotension, Hypertension, Anemia OMIM:174000
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Premature ventricular contractio... OMIM:212138
Reynolds Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Lymphopenia OMIM:613471
Low Phospholipid-Associated Cholelithiasis
Overweight, Liver abscess, Obesity ORPHA:69663
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... ORPHA:100086
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy ORPHA:536
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Rift Valley Fever
Thrombocytopenia, Increased circulating IgG level, Increased circulating IgM level, Anemia ORPHA:319251
Bronchial Neuroendocrine Tumor
Tricuspid regurgitation, Right ventricular failure, Weight loss, Palpitations, Facial telangiecta... ORPHA:97287
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Increased body weight, Weight loss, Leukopenia, Decreased body weight... ORPHA:2298
Congenital Disorder Of Glycosylation, Type Iib
Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Feingold Syndrome 1
Accessory spleen, Asplenia, Patent ductus arteriosus, Polysplenia, Annular pancreas OMIM:164280
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Nipah Virus Disease
Hypotension ORPHA:99825
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight OMIM:615954
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Failure to thrive, Hypotension OMIM:177735
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Parotitis, Microcytic anemia, Increased circulating IgA level, Splenomegaly, Lympha... OMIM:256040
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... ORPHA:100085
Pituitary Apoplexy
Hypertension, Normochromic anemia, Hypotension ORPHA:95613
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia ORPHA:52368
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Abnormal erythrocyte enzyme level, Splenomegaly, Increased body weight, Failure to thrive, Anemia ORPHA:264580
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Granuloma, Increased circulating IgM level ORPHA:562639
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Capillary leak, Reduced left ventricular ejection fraction, Hypotension... ORPHA:542323
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Decreased circulating IgG level, Decreased circulating IgA level OMIM:212065
Cushing Disease
Leukocytosis, Increased body weight, Truncal obesity, Abdominal obesity, Decreased eosinophil cou... ORPHA:96253
Familial Mediterranean Fever
Orchitis, Splenomegaly, Peritonitis, Lymphadenopathy, Pancreatitis ORPHA:342
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Sarcoidosis
Hemolytic anemia, Hepatomegaly, Parotitis, Eosinophilia, Portal hypertension, Thrombocytopenia, I... ORPHA:797
Dubowitz Syndrome
Aplastic anemia, Recurrent infections, Acute lymphoblastic leukemia, Decreased circulating IgG le... OMIM:223370
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hypotension ORPHA:91354
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Increased body weight, Large for gestational age ORPHA:263455
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Splenomegaly, Increased body weight, Anemia ORPHA:79240
Adult Acute Respiratory Distress Syndrome
Shock, Vasculitis, Hypotension ORPHA:70578
Primary Sclerosing Cholangitis
Recurrent systemic pyogenic infections, Abnormal eosinophil morphology, Splenomegaly, Polyclonal ... ORPHA:171
Trichohepatoenteric Syndrome 1
Splenomegaly, Thrombocytosis, Increased mean platelet volume, Decreased circulating antibody level OMIM:222470
Pde4D Haploinsufficiency Syndrome
Obesity, Hypotension ORPHA:439822
Primary Biliary Cholangitis
Onychomycosis, Increased circulating IgM level, Recurrent fungal infections, Increased circulatin... ORPHA:186
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Decreased circulating antibody level, Thr... OMIM:274000
Yellow Fever
Increased circulating interleukin 6 concentration, Neutrophilia, Leukocytosis, Increased circulat... ORPHA:99829
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... ORPHA:95459
Meckel Syndrome
Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, C... ORPHA:564
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral regurgitation, Hypot... OMIM:620300
Familial Hypoaldosteronism
Orthostatic hypotension, Failure to thrive, Hypovolemia, Hypotension ORPHA:427
Non-Functioning Pituitary Adenoma
Hypotension, Anemia of inadequate production ORPHA:91349
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Splenomegaly, Anemia, Lymphadenopathy ORPHA:667
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Addison Disease
Normocytic anemia, Orthostatic hypotension, Thiamine-responsive megaloblastic anemia, Weight loss... ORPHA:85138
Insulinoma
Increased body weight ORPHA:97279
Cherubism
Submandibular lymph node enlargement OMIM:118400
Meckel Syndrome, Type 1
Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Splenomegaly, Cryptorchidis... OMIM:249000
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Familial Mediterranean Fever
Splenomegaly, Leukocytosis, Neutrophilia OMIM:249100
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Asplenia, Patent ductus arteriosus, Biliary atresia, Abdominal situs inversus, Poly... OMIM:306955
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, ST segment depression, Hypotension, Abnormal T-wave, Abnormal pulse pressu... ORPHA:466650
Sotos Syndrome
Overgrowth, Increased body weight, Tall stature OMIM:117550
Liver Failure, Infantile, Transient
Decreased circulating IgG level OMIM:613070
Adenocarcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424016
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... OMIM:261740
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level OMIM:604928
Kawasaki Disease
Leukocytosis, Cervical lymphadenopathy, Jaundice, Hepatitis, Cholecystitis ORPHA:2331
Meningococcal Meningitis
Shock, Hypotension ORPHA:33475
Hydroxykynureninuria
Tachycardia, Hypotension ORPHA:79155
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell a... ORPHA:99889
Infant Botulism
Hypertension, Cardiac arrest, Hypotension ORPHA:178478
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level, Recurrent infections OMIM:601675
Mercury Poisoning
Hypertension, Tachycardia, Hypotension ORPHA:330021
Post-Traumatic Pituitary Deficiency
Hypotension ORPHA:95619
Familial Glucocorticoid Deficiency
Hypertrophic cardiomyopathy, Failure to thrive, Hypotension, Weight loss ORPHA:361
Aa Amyloidosis
Hypotension ORPHA:85445
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hypotension OMIM:620125
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight OMIM:615830
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Carnitine-Acylcarnitine Translocase Deficiency
Cardiomyopathy, Arrhythmia, Ventricular tachycardia, Hypotension ORPHA:159
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis, Abnormality of the lymphatic system, Lymphadenopathy ORPHA:538
Tetraamelia Syndrome 1
Asplenia, Adrenal gland agenesis OMIM:273395
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola... ORPHA:90068
Heterotaxy, Visceral, 5, Autosomal
Asplenia, Patent ductus arteriosus, Abdominal situs ambiguus, Abdominal situs inversus OMIM:270100
Leptospirosis
Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctival hemorrhage... ORPHA:509
Pseudoaminopterin Syndrome
Asplenia, Cryptorchidism ORPHA:221120
Blau Syndrome
Splenomegaly, Lymphadenopathy, Abnormality of the liver, Abnormal salivary gland morphology, Anemia ORPHA:90340
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased circulating antibody level, Anemia, Hepatosplenomegaly ORPHA:247598
Inhalational Anthrax
Internal hemorrhage, Hypotension ORPHA:247257
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Hyperte... ORPHA:31826
Behçet Disease
Orchitis, Splenomegaly, Pancreatitis, Lymphadenopathy ORPHA:117
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Annular pancreas, Patent ductus arteriosus, Pulmonary lymphangiectasia OMIM:265380
Serotonin Syndrome
Hypertension, Tachycardia, Hypotension ORPHA:43116
Gitelman Syndrome
Prolonged QT interval, Ventricular tachycardia, Palpitations, Hypotension, Failure to thrive OMIM:263800
Malakoplakia
Orchitis, Follicular hyperplasia ORPHA:556
Diarrhea 10, Protein-Losing Enteropathy Type
Recurrent upper respiratory tract infections, Decreased circulating antibody level OMIM:618183
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Increased body weight ORPHA:398069
Alexander Disease
Hypotension, Hypertension, Failure to thrive, Sudden cardiac death ORPHA:58
Congenital Isolated Acth Deficiency
Hypotension ORPHA:199296
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Neuroendocrine Neoplasm Of Appendix
Hepatomegaly, Ovarian neoplasm, Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormon... ORPHA:100079
Multiple Endocrine Neoplasia Type 2
Thyroid C cell hyperplasia, Cervical lymphadenopathy, Primary hyperparathyroidism, Parathyroid hy... ORPHA:653
Poliomyelitis
Hypertension, Hypovolemic shock, Hypotension ORPHA:2912
Distal Deletion 19P
Decreased circulating antibody level ORPHA:96129
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Failure to thrive, Hypotension ORPHA:90791
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Abdominal obesity, Increased body weight ORPHA:189427
Sponastrime Dysplasia
Decreased circulating antibody level, Recurrent pneumonia, Neutropenia ORPHA:93357
Acute Liver Failure
Shock, Gastrointestinal hemorrhage, Intracranial hemorrhage, Hypotension, Thrombocytopenia ORPHA:90062
Cholera
Hypovolemic shock, Tachycardia, Hypotension ORPHA:173
Renal Tubular Dysgenesis
Hypotension OMIM:267430
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypotension OMIM:608643
Tsh-Secreting Pituitary Adenoma
Supraventricular arrhythmia, Congestive heart failure, Weight loss, Hypertension, Palpitations, H... ORPHA:91347
African Trypanosomiasis
Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Lymphadenopathy, Abnormal prolactin level ORPHA:3385
Plague
Splenomegaly, Lymphadenitis, Hepatomegaly, Enlarged mesenteric lymph node ORPHA:707
Autosomal Dominant Hypocalcemia
Congestive heart failure, Arrhythmia, Hypotension ORPHA:428
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Failure to thrive, Hypovolemia, Hypotension ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Failure to thrive, Hypovolemia, Hypotension ORPHA:289548
Prolactinoma
Hypotension ORPHA:2965
Fragile X-Associated Tremor/Ataxia Syndrome
Hypertension, Hypotension ORPHA:93256
Hereditary Angioedema Type 1
Hypotension ORPHA:100050
Bartter Syndrome, Type 3
Hypotension OMIM:607364
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Shock, Hypovolemia, Weight loss, Hypotension, Failure to thrive ORPHA:90794
Viss Syndrome
Increased circulating IgG level, Increased circulating IgE level, Hypereosinophilia, Decreased ci... OMIM:619472
Mowat-Wilson Syndrome
Asplenia, Cryptorchidism, Patent ductus arteriosus, Hydrocele testis ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Asplenia, Cryptorchidism, Patent ductus arteriosus, Hydrocele testis ORPHA:261552
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Decreased circulating IgG level, Secretory IgA deficiency, Recurrent infections ORPHA:500150
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Asplenia, Cryptorchidism, Hydrocele testis ORPHA:261537
Carney Complex
Abdominal obesity, Increased body weight, Tall stature ORPHA:1359
Non-Acquired Panhypopituitarism
Hypotension ORPHA:90695
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypotension ORPHA:95494

Histopathology

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

There is no histopathology data for Dclre1c

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Dclre1c.

No publications found that use IMPC mice or data for Dclre1c.

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