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Gene: Ltb MGI:104796

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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:
lymphotoxin B
Synonyms:
lymphotoxin beta,  Tnfsf3,  Tnfc,  LTbeta,  p33

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 Ltb mutations

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

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... OMIM:605258
Tuftsin Deficiency
Abnormality of the spleen, Recurrent infections OMIM:191150
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Lymphadenopathy OMIM:616126
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Lymphadenopathy, Increased circulating IgM level, Recurre... OMIM:608106
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, S... OMIM:615513
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent oral herpes, Autoimmune hemolytic anemia, Persistent CMV viremia, Fluctuating splenomeg... OMIM:619220
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Severe varicella zoster infection, Recurrent tonsillitis, ... ORPHA:397596
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Nodular pattern on pulmonary HRCT, Follicular hyperpl... ORPHA:60026
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
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
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Feeding difficulties in infancy, Increased T cell count, Increased circulating IgG level, Inflamm... ORPHA:98813
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Chronic di... OMIM:619281
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Agammaglobulinemia 3, Autosomal Recessive
Diarrhea, Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent ... OMIM:613501
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... OMIM:614699
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Impaired Ig class switch recombination, Autoimmune thrombocytopenia,... OMIM:608184
Bare Lymphocyte Syndrome, Type Ii
Villous atrophy, Cholangitis, Recurrent viral infections, Colitis, Neutropenia, Infectious enceph... OMIM:209920
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... OMIM:300853
Lymphoproliferative Syndrome 3
Severe varicella zoster infection, Hepatosplenomegaly, Lymphadenopathy, Decreased circulating ant... OMIM:618261
Immunodeficiency, Common Variable, 11
Recurrent respiratory infections, Failure to thrive, Mucoid diarrhea, Increased circulating IgE l... OMIM:615767
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Recurrent respiratory infections, Acne, Recurrent skin infections, Ap... OMIM:300635
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Splenomegaly, Recurrent infections, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Follicular hyperplasia, Hepatosplenomegaly, Decreased proportio... OMIM:619126
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia... OMIM:240500
Immunodeficiency 84
Perianal abscess, Splenomegaly, Persistent EBV viremia, Recurrent bacterial infections, B lymphoc... OMIM:619437
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Recurrent respiratory infections, Cervical lymphadenopathy, Decreased circulating total IgM, B ly... OMIM:618987
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulin... OMIM:613500
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presenc... OMIM:607594
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level, BCGitis OMIM:619549
Immunodeficiency 37
Recurrent infections, Decreased circulating antibody level, Colitis, Decreased proportion of cent... OMIM:616098
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Absence of... OMIM:619924
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Herpes simplex encephalitis, Hepatosplenomegaly, Increased propo... OMIM:618982
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Recurrent viral infections... OMIM:615897
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Abnormal lymphocy... OMIM:613953
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Immunodeficiency 76
Splenomegaly, Chronic diarrhea, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis,... OMIM:619164
Kerion Celsi
Recurrent cutaneous abscess formation, Lymphadenopathy ORPHA:499
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Chronic diarrhea, Bronchiectasis,... OMIM:618394
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Meningitis, Increased circulating IgE level, Hypereosinophilia, Chronic ti... OMIM:212050
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Persistent CMV viremia, Autoimmune thrombocytopenia... OMIM:617514
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased proportion of class-switched memory B cells, Decrease... OMIM:613493
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... OMIM:308230
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Persistent CMV viremia, Splenomegaly, Chronic diarrhea, Enlarged tonsils, Bronchiect... OMIM:616005
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent viral infections, Lymphadenitis, Colitis, Lymphocytosis, Autoimmune thrombocytopenia, C... ORPHA:911
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Recurrent sinopulmonary infections, Decreased proportion of CD... OMIM:619846
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Recurrent upper respiratory tract infections, Abnormal natural killer cell physiolo... OMIM:613101
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Recurrent opportunistic infections, Chronic mucocutaneous candidiasis... OMIM:608971
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Anorexia, Splenomegaly, Diarrhea, Leukocytosis, Hepat... OMIM:209950
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent bacterial infections, Neutropenia, Recurrent otitis m... OMIM:616022
Immunodeficiency 70
Decreased circulating total IgG, Celiac disease, Decreased circulating antibody level, Decreased ... OMIM:618969
Histiocytosis, Familial Lipochrome
Recurrent infections, Increased circulating antibody level, Histiocytosis OMIM:235900
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent bacterial infections, Recurrent vira... OMIM:310350
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Chronic diarrhea, Increased circulating IgE level, Atopic dermatitis, Br... OMIM:617638
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinem... OMIM:308240
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulat... OMIM:612692
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Skin... OMIM:300400
Dysplasia Of Head Of Femur, Meyer Type
Leukocytosis, Enlarged tonsils ORPHA:168621
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Failure to thrive, Skin rash, Gastritis, Perianal abscess, Diar... OMIM:618108
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... OMIM:308220
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Abnormality of the tonsils, Decreased proportion of CD8-positive T cells, Decreased circulating t... OMIM:611926
Mannose-Binding Lectin Deficiency
Recurrent herpes, Failure to thrive, Recurrent skin infections, Recurrent meningococcal disease, ... OMIM:614372
Immunodeficiency 25
Autoimmune hemolytic anemia, Recurrent herpes, Eosinophilia, Increased circulating IgA level, Inc... OMIM:610163
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... OMIM:620282
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Abnormal neutrophil count, Recurrent infections, Monocytosis, Incr... ORPHA:2688
Reticular Dysgenesis
Recurrent respiratory infections, Skin rash, Abnormality of neutrophils, Malabsorption, Diarrhea,... ORPHA:33355
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent herpes, Decreased proportion of naive T cells, Sepsis, Recurrent cutaneous fungal infec... ORPHA:276
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Minimal chan... OMIM:617006
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Ficolin 3 Deficiency
Recurrent Staphylococcus aureus infections, Necrotizing enterocolitis, Recurrent abscess formatio... OMIM:613860
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections, Hemophagocytosis, Hepatosplenom... OMIM:607624
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Ulcerative colitis, Bloody diarrhea OMIM:619398
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Respiratory tract inf... ORPHA:444463
Immunodeficiency 62
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion o... OMIM:618459
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, I... OMIM:601859
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Sepsis, Recurrent candida infections, Inflammation of ... ORPHA:436159
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Eczema, Failure to thrive in infancy, Decreased proportion of CD8-posi... OMIM:617241
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Chronic diarrhea, Recurrent infections,... OMIM:615285
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Recurrent respiratory infections, Follicular hyperp... OMIM:614470
Immunodeficiency 48
Hepatomegaly, Failure to thrive, Recurrent respiratory infections, Pneumonia, Absence of CD8-posi... OMIM:269840
Complement Component 6 Deficiency
Decreased circulating complement C6 concentration, Reduced hemolytic complement activity, Recurre... OMIM:612446
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Recurrent respirat... OMIM:618495
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Generalized lymphadenopathy, Sepsis, Uveitis, Inflammation o... OMIM:614700
Masp2 Deficiency
Complement deficiency, Recurrent pneumonia, Ulcerative colitis OMIM:613791
Complement Component 7 Deficiency
Decreased circulating complement C7 concentration, Recurrent Neisserial infections, Recurrent men... OMIM:610102
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Absence of lymph node germina... ORPHA:277
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Recurrent viral infections, Lymphadenitis, Decreased proportion of CD3-pos... ORPHA:331206
Immunodeficiency 32A
Lymphadenitis, BCGitis, Recurrent infections, Lymphadenopathy, Granuloma OMIM:614893
Immunoglobulin A Deficiency 2
Recurrent sinopulmonary infections, Abnormal lymphocyte morphology, Recurrent infection of the ga... OMIM:609529
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Sinusitis, Abnormal CD4:CD8 ratio, Recurrent viral infections, Acute otitis med... ORPHA:572
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent herpes, Anorexia, Recurrent candida infections, Recurrent abscess formation, Otitis med... ORPHA:169160
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Chronic oral candidiasis, Failure to thrive, Skin rash, Recurrent viral infections, Recurrent myc... ORPHA:275
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Sepsis, Decreased circulating IgG level, Hepatomegaly, Psoriasiform dermatiti... OMIM:616100
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM level, Anemia ORPHA:37748
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Lymphadenitis, Recurrent mycobacterial infections, BCGo... ORPHA:319552
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Sepsis, Abnormal lymph no... OMIM:612840
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased proportion of cl... OMIM:614878
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphoc... ORPHA:83471
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Pancytopenia, Skin rash, Failure to thrive, Reduced natural killer cell activity... OMIM:616050
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Eosinophi... OMIM:243700
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... OMIM:202700
Immunodeficiency 27B
Recurrent mycobacterial infections, Generalized lymphadenopathy, Recurrent mycobacterium avium co... OMIM:615978
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... OMIM:193670
Kimura Disease
Eosinophilia, Increased circulating IgE level, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... OMIM:615559
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Immunodeficiency 50
Recurrent respiratory infections, Recurrent urinary tract infections, Eczema, Decreased circulati... OMIM:300988
Complement Factor D Deficiency
Recurrent bacterial infections, Partial functional complement factor D deficiency OMIM:613912
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent tonsillitis, Decreased circulating complement C3 concen... OMIM:613779
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... OMIM:618944
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... ORPHA:169154
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Rec... OMIM:615122
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Immunodeficiency 95
Recurrent respiratory infections, Decreased circulating IgG3 level, Recurrent viral upper respira... OMIM:619773
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Iron deficiency anemia, Increased B cell count, Decreased lympho... OMIM:603909
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu... OMIM:301082
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis, Decreased circulating complement C8 concentration OMIM:613789
Cernunnos-Xlf Deficiency
Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, T lymphocytop... ORPHA:169079
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod... ORPHA:100024
Immunodeficiency 15B
Failure to thrive, Chronic diarrhea, Decreased circulating antibody level, Agammaglobulinemia, Mo... OMIM:615592
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Bloody diarrhea, Hypoplasia of the thymus, Psoriasiform dermatitis, Leukocytosis, ... OMIM:243150
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, Recurrent viral infections, Severe varicella zoster infection, T lymphocytopenia... OMIM:606367
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Villous atrophy, Recurrent respiratory infections, Failure to thrive in infancy, Ecz... OMIM:619510
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Chronic diarrhea, Recurrent p... OMIM:601495
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
Immunodeficiency 12
Skin rash, Decreased lymphocyte proliferation in response to anti-CD3, Abnormal lymphocyte count,... OMIM:615468
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Abnormal circulating IgM level, Increased circulating IgA level, Recurre... OMIM:618048
Burkitt Lymphoma
Abnormality of the pancreas, Abnormality of the spleen, Abnormal lymph node morphology, Abnormali... ORPHA:543
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Malabsorption, Recurrent infections, Recurrent infection of the... OMIM:137100
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Eczema, Anal fissure, Abscess, Perianal abscess, Lymphadeni... OMIM:618935
Immunodeficiency 23
Recurrent staphylococcal infections, Severe varicella zoster infection, Increased circulating IgG... OMIM:615816
Pfapa Syndrome
Nausea and vomiting, Hepatomegaly, Abdominal pain, Malabsorption, Splenomegaly, Recurrent pharyng... ORPHA:42642
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Anemia ORPHA:100025
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... OMIM:616873
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Ceroid storage disease
Abnormality of the spleen, Hepatic failure OMIM:214200
Immunodeficiency 10
Autoimmune hemolytic anemia, Recurrent infections, Lymphadenopathy, Recurrent bacterial infection... OMIM:612783
Immunodeficiency 40
Hepatomegaly, Rectal fistula, Severe varicella zoster infection, Chronic diarrhea, Recurrent pneu... OMIM:616433
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Recurrent viral... ORPHA:217390
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Partial IgA deficiency, Recurrent viral infections, Acute otitis media, T lymphocytopenia, Decrea... ORPHA:35078
Selective Igm Deficiency
Fasciitis, Recurrent herpes, Recurrent staphylococcal infections, Lymphadenitis, Severe varicella... ORPHA:331235
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Recurrent respiratory infections, Chronic oral candidi... OMIM:615387
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Hematochezia, Folliculitis, Pyoderma, Colitis, Crohn's disease OMIM:613148
Pseudomyxoma Peritonei
Nausea and vomiting, Abnormal peritoneum morphology, Intestinal obstruction, Abdominal pain, Lymp... ORPHA:26790
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent viral infections, Absence of CD8-positive T cells, Br... OMIM:608957
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis ORPHA:157991
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Impaired T cell function, Pure r... OMIM:613179
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Generalized lymphadenopathy, Lymphadenitis, Severe varicella zoster infection, Sepsis, Leukopenia... OMIM:618986
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Sterile arthritis, Hepatosplenomegaly, Art... OMIM:604416
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Failure to thrive in infancy, Abdominal pain, Increased circulating IgA ... OMIM:617099
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Agammaglobulinemia 9, Autosomal Recessive
Failure to thrive, Seborrheic dermatitis, Agammaglobulinemia, Recurrent bacterial infections, Abs... OMIM:619693
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... OMIM:233710
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Recurrent bronchopulmonary infections, Neutropenia OMIM:610798
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Pneumocystis jirovecii pneum... OMIM:301078
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Pleur... ORPHA:545
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, T... OMIM:603554
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Cyclic neutropenia, Abdominal pain, Perianal abscess, Perit... ORPHA:2686
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent infections, Agammaglobulinemia, Post-vaccination polio, B lymphocytopenia, Recurrent ot... OMIM:616941
Immunodeficiency 92
Hepatomegaly, Recurrent oral herpes, Osteomyelitis, Pneumonia, Cholangitis, Persistent CMV viremi... OMIM:619652
Immunodeficiency, Common Variable, 6
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Autoimmune thrombocytopenia, ... OMIM:613496
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... OMIM:618213
Immunodeficiency 46
Chronic oral candidiasis, Recurrent sinopulmonary infections, Chronic diarrhea, Neutropenia, Seps... OMIM:616740
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Recurrent respiratory infec... OMIM:301074
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
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... OMIM:233690
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Sinusitis, Pneumonia, Protruding tongue, Malabsorption, Diarrhea, Bronchiectas... OMIM:242860
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pan... ORPHA:54251
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilic liver infiltration, Eosinophilia, Recurrent viral infections, Atopic dermatitis, Hep... OMIM:618999
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Hemolytic anemia, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial... ORPHA:169090
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutro... OMIM:603552
Dyskeratosis Congenita, Autosomal Recessive 5
Esophageal stenosis, Decreased circulating antibody level, Leukopenia, Colitis, Bone marrow hypoc... OMIM:615190
Boutonneuse Fever
Skin rash, Maculopapular exanthema, Abdominal pain, Diarrhea, Cervical lymphadenopathy, Lymphaden... ORPHA:83313
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Severe B lymphocytopenia, Recurrent viral infections, Hepatomegaly, Autoimmune thrombo... OMIM:102700
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Diarrhea, BCGosis, Hepatosplenomegaly, Throm... OMIM:618963
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... OMIM:613011
Neutropenia, Chronic Familial
Neutropenia, Periodontitis, Increased circulating antibody level OMIM:162700
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... OMIM:300636
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ... OMIM:247800
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Neu... OMIM:615214
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Lymphopenia, Recurrent urinary tract infections, Recurrent skin infections, Recurre... OMIM:620210
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Secretory diarrhea, Sepsis, Tubulointerstitial nephritis, Iron deficiency anemia, Colit... ORPHA:37042
Complement Factor B Deficiency
Pneumonia, Decreased circulating complement factor B concentration, Peritonitis, Recurrent bacter... OMIM:615561
X-Linked Agammaglobulinemia
Sinusitis, Sepsis, Glossoptosis, Conjunctivitis, Neutropenia, Chronic otitis media, Meningitis, R... ORPHA:47
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, E... OMIM:602450
Pleural Mesothelioma
Hepatomegaly, Abnormal pleura morphology, Abnormal lung morphology, Lymphadenopathy, Pleural effu... ORPHA:50251
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Increased circulating IgG level, Leuk... ORPHA:443811
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Recurrent respiratory infections, Decreased proportion of marginal zone B cells, Au... OMIM:619375
Immunodeficiency 58
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic diarrhea, Bronchiec... OMIM:618131
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the spleen ORPHA:2487
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Meningitis, Diarrhea, Recurrent opportunistic infections, Arthritis... OMIM:601457
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumocystis jirovecii pneumonia, Pneumonia, Diarrhea, Recurrent upper respiratory tract infectio... OMIM:614069
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Nausea and vomiting, Gastrointestinal hemorrhage, Hepatomegaly, Poor appetite, Abnormal large int... ORPHA:2198
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent herpes, Liver abscess, Cholangitis, Sepsis, Pulmonary tuberculosis, ... ORPHA:183675
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Decreased proportion of naive T cells, Anorexia, T lymphocytopenia, Colitis, Vom... OMIM:619381
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Recurrent infections, Decreased circulating antibody level OMIM:616911
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent viral infections, Recurrent pne... OMIM:614868
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Immunodeficiency 11A
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased proportion of CD4+C... OMIM:615206
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Recurrent respiratory infections, Decreased circulating antibody level OMIM:618042
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... ORPHA:540
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... ORPHA:2585
Inflammatory Bowel Disease (Crohn Disease) 1
Intestinal obstruction, Abdominal pain, Diarrhea, Ulcerative colitis, Weight loss, Inflammation o... OMIM:266600
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Anterior uveitis, Hemolytic anemia, Skin rash, Colitis, Ileal ulcer, Lymphopenia, Thrombocytopenia OMIM:616744
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Lymphadenopathy OMIM:611762
Inflammatory Bowel Disease 25, Autosomal Recessive
Enterocutaneous fistula, Perianal abscess, Pancolitis, Enterocolitis, Folliculitis, Rectovaginal ... OMIM:612567
Immunodeficiency 32B
Hepatomegaly, Recurrent respiratory infections, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia,... OMIM:226990
Agammaglobulinemia, X-Linked
Sepsis, T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circ... OMIM:300755
Immunodeficiency 54
Hepatomegaly, Recurrent respiratory infections, Recurrent viral infections, Splenomegaly, Lymphad... OMIM:609981
Immunodeficiency 67
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... OMIM:607676
Galactose Epimerase Deficiency
Nausea and vomiting, Hepatomegaly, Splenomegaly, Jaundice, Feeding difficulties, Weight loss ORPHA:79238
Neutropenia, Severe Congenital, X-Linked
Eczema, Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio OMIM:300299
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Angiostrongyliasis
Projectile vomiting, Poor appetite, Abdominal pain, Increased circulating IgA level, Hypereosinop... ORPHA:74
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... ORPHA:98848
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Skin rash, Eosinophilia, Recurrent pneumonia, Increased circu... OMIM:147060
Primary Intestinal Lymphangiectasia
Lymphopenia, Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Abdominal pai... ORPHA:90362
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,... ORPHA:486
Immunodeficiency 96
Eczema, Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating ... OMIM:619774
Pulmonary Blastoma
Recurrent pneumonia, Weight loss ORPHA:64741
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Immunodeficiency 31C
Villous atrophy, Protein-losing enteropathy, Disseminated histoplasmosis, Recurrent vulvovaginal ... OMIM:614162
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Sinusitis, Enteroviral dermatomyositis syndrome, Pneumonia, R... OMIM:307200
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Felty Syndrome
Sinusitis, Sepsis, Neutropenia, Chronic otitis media, Abnormal lymphocyte morphology, Hepatomegal... ORPHA:47612
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Skin rash, Meningitis, Cervical lymphadenopathy, Recurrent pneumonia, Decreased mean platelet vol... OMIM:617718
Brucellosis
Liver abscess, Anorexia, Knee osteoarthritis, Increased circulating IgG level, Leukopenia, Abnorm... ORPHA:1304
Wiskott-Aldrich Syndrome
Recurrent herpes, Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, In... OMIM:301000
Autoimmune Lymphoproliferative Syndrome
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... ORPHA:3261
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Thrombocytopenia, Splenomeg... ORPHA:507
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... OMIM:300291
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Myeloprolifer... ORPHA:79456
Tularemia
Brain abscess, Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal ... ORPHA:3392
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Villous atrophy, Eczema, Glomerulonephritis, Autoimmune thrombocytopenia, Eosinophilia, Thrombocy... OMIM:304790
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia, Recurrent respiratory infe... OMIM:233650
Immunodeficiency 22
Pericarditis, Failure to thrive, Abscess, Thrombocytopenia, Diarrhea, Recurrent upper respiratory... OMIM:615758
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Abdo... ORPHA:2137
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Hepatomegaly, Recurrent bacterial skin infections, Liver absces... OMIM:306400
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Recurrent skin infections, Recurrent pneumonia, Increased circulating IgE level, Bro... OMIM:619752
Shigellosis
Anorexia, Intestinal perforation, Sepsis, Uveitis, Bloody diarrhea, Paralytic ileus, Conjunctivit... ORPHA:810
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia,... OMIM:618282
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:97290
Classic Mycosis Fungoides
Splenomegaly, Hepatomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:2584
Deafness-Lymphedema-Leukemia Syndrome
Nausea and vomiting, Hepatomegaly, Recurrent respiratory infections, Abnormal neutrophil count, S... ORPHA:3226
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Abdominal pain, Chronic diarrhea, Pancolitis, Bloody diarrhea, Vomiting, A... OMIM:619079
Immunodeficiency 56
Recurrent respiratory infections, Failure to thrive, Pneumocystis jirovecii pneumonia, Cholangiti... OMIM:615207
Familial Papillary Or Follicular Thyroid Carcinoma
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology ORPHA:319487
Diarrhea 8, Secretory Sodium, Congenital
Abdominal distention, Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium OMIM:616868
Immunodeficiency 43
Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,... OMIM:241600
Aggressive Systemic Mastocytosis
Anorexia, Neutropenia, Maculopapular exanthema, Portal hypertension, Abdominal pain, Leukocytosis... ORPHA:98850
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Zika Virus Disease
Maculopapular exanthema, Skin rash, Thrombocytopenia, Meningitis, Arthritis, Increased circulatin... ORPHA:448237
Cinca Syndrome
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Meningitis, Anemia OMIM:607115
Sepsis In Premature Infants
Increased circulating interleukin 6 concentration, Gastrointestinal dysmotility, Vomiting, Neutro... ORPHA:90051
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Impaired T cell function, Splenomegaly, Chronic diarrhea, Decreased s... OMIM:614576
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100083
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, Recurrent viral infections, B lymphocytopenia, Recurrent fungal i... OMIM:614172
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Increased circulating interleukin 6 concentration, Hepatomegaly, Asplenia, Cerv... OMIM:614034
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent viral infections, T lymphocytopenia, Recurrent abscess formation, Hepatomegaly, Portal ... ORPHA:79124
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent sk... OMIM:616576
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Cutaneous Photosensitivity And Colitis, Lethal
Diarrhea, Colitis OMIM:219095
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Allergic rhinitis, Eosinophilia, Abdominal pain, Malab... ORPHA:2070
Complement Factor H Deficiency
Depletion of components of the alternative complement pathway, Recurrent bacterial infections, De... OMIM:609814
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ... ORPHA:75564
Hirschsprung Disease
Nausea and vomiting, Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Failure... ORPHA:388
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Recurrent respiratory infections, Hepatomegaly ORPHA:139406
Immunoglobulin Kappa Light Chain Deficiency
Recurrent respiratory infections, Abnormal immunoglobulin level, Diarrhea, Chronic diarrhea, Recu... OMIM:614102
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem... ORPHA:514
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Nephroblastoma
Neoplasm of the lung, Neoplasm of the liver, Lymphadenopathy ORPHA:654
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... OMIM:116920
Immunodeficiency 47
Normocytic anemia, Leukopenia, Hepatic fibrosis, Hepatic steatosis, Accessory spleen, Hepatomegal... OMIM:300972
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobuli... OMIM:619705
Immunodeficiency 68
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Primary Biliary Cholangitis
Portal hypertension, Increased circulating IgA level, Celiac disease, Abdominal distention, Jaund... ORPHA:186
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Small for gestational age, Diarrhea, Chronic diarrhea, Chronic hep... OMIM:614602
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Abdominal pa... ORPHA:2494
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly ORPHA:56425
Immunodeficiency 42
Hepatomegaly, Splenomegaly, BCGosis, Recurrent cutaneous fungal infections, Hypoplasia of the thy... OMIM:616622
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eczema, Eosinophilia, Keratitis, Chronic diarrhea, Increased ci... OMIM:618523
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia OMIM:610738
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Splenic infarction, Jaundice, Leukocytosis, Recurre... OMIM:603903
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Sézary Syndrome
Hepatomegaly, Abnormal pleura morphology, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte morp... ORPHA:3162
5-Oxoprolinase Deficiency
Diarrhea, Vomiting, Enterocolitis, Abdominal pain OMIM:260005
Simple Cryoglobulinemia
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Pericarditis, Membranopro... ORPHA:91139
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Eczema, Abdominal pain, Lymphadenitis, Leukocytosis, Chronic diarrhea, Splenomegaly... OMIM:615895
Specific Granule Deficiency 2
Absent neutrophil specific granules, Thrombocytopenia, Recurrent pneumonia, Sepsis, Recurrent bac... OMIM:617475
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... OMIM:619350
Gamma-Heavy Chain Disease
Recurrent respiratory infections, Autoimmune hemolytic anemia, Hepatomegaly, Autoimmune thrombocy... ORPHA:100026
Netherton Syndrome
Recurrent respiratory infections, Villous atrophy, Failure to thrive, Recurrent skin infections, ... OMIM:256500
Idiopathic Achalasia
Malnutrition, Weight loss, Gastroesophageal reflux, Dysphagia, Recurrent aspiration pneumonia ORPHA:930
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the... ORPHA:171
Immunodeficiency, Common Variable, 10
Recurrent oral herpes, Frequent Giardia lamblia infestation, Psoriasiform dermatitis, Pyloric ste... OMIM:615577
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Recurrent respiratory infections, Thrombocytopenia, Splenomegaly, Recurrent pneumon... OMIM:617303
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Severe infection, Hy... ORPHA:251380
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Lymphadenopathy, Anemia, Thrombocytopenia ORPHA:858
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... OMIM:615139
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Recurrent herpes, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombo... ORPHA:391487
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Neutrophilia, Recurrent pneum... OMIM:619644
Lassa Fever
Nausea and vomiting, Abdominal pain, Diarrhea, Jaundice, Sepsis, Increased circulating IgM level,... ORPHA:99824
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Lymphadenopathy, Arthritis, Increased c... ORPHA:69126
Kaposi Sarcoma
Abnormality of the spleen, Abnormal lung morphology, Generalized lymphadenopathy, Abnormality of ... ORPHA:33276
Inflammatory Bowel Disease 11
Abdominal pain, Diarrhea, Weight loss, Hematochezia, Inflammation of the large intestine OMIM:191390
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Hepatomegaly, Pleural effusion, Lymphadenopathy ORPHA:85414
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Failure to thrive, Aplasia of the thymus, Recurrent viral infections, Recurrent bron... OMIM:242700
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Thymoma
Myositis, Aplastic anemia, Glomerulonephritis, Abnormal lymphocyte proliferation, Abnormal lympho... ORPHA:99867
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Esophageal stricture, Pancolitis, Inflammation of the large intestine, B lymphocyto... OMIM:620133
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Liver abscess, Lung abscess, Abdominal pain, Gastrointestinal dysmotility... ORPHA:67
Eosinophilia, Familial
Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Leukocytosis, Anemia OMIM:131400
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granulomatous cholangitis, Ulcerative colitis, Cholestasis, Abnormal intrahepatic bile duct morph... ORPHA:562639
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Myositis, Sinusitis, Skin rash, Failure to thrive, Thrombocytopenia, Splenomegaly, ... OMIM:617591
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Eczema, Celiac disease, Increased circulating IgE level, Thyroiditis, Recurrent infections OMIM:618985
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... ORPHA:2643
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the lung, Neoplasm of the liver, Lymphadenopathy ORPHA:424019
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,... ORPHA:86843
Roifman Syndrome
Eosinophilia, Recurrent pneumonia, Hepatosplenomegaly, Lymphadenopathy, Decreased circulating ant... ORPHA:353298
Classic Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy ORPHA:391
Isolated Congenital Hypoglossia/Aglossia
Nasogastric tube feeding in infancy, Cleft palate, Feeding difficulties, Weight loss, Aspiration ... ORPHA:141152
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy ORPHA:99978
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Decreased circulating IgA level, Decreased circulating antibody level OMIM:617744
Autoinflammatory-Pancytopenia Syndrome
Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chilblains, Chro... OMIM:619858
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Mediastinal lymphadenopathy, Anemia, Pulmonary fibrosis, Bone marr... OMIM:614742
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Wolman Disease
Nausea and vomiting, Hepatomegaly, Bone-marrow foam cells, Cachexia, Abdominal distention, Spleno... ORPHA:75233
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Hepatomegaly, Portal ... ORPHA:131
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Colitis, Obesity ORPHA:88643
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abdominal distention, Enterocolitis, Constipation, Vomiting OMIM:142623
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Feeding difficulties in infancy, Gastroesophageal reflux, Vomiting, Nausea, Eosinophilic infiltra... ORPHA:411696
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Rec... OMIM:214500
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, R... ORPHA:51636
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Syndromic Diarrhea
Hepatomegaly, Villous atrophy, Lymphopenia, Gastritis, Hepatoblastoma, Increased mean platelet vo... ORPHA:84064
Multicentric Reticulohistiocytosis
Arthritis, Cachexia, Histiocytosis ORPHA:139436
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Eczema, Autoimmune thrombocytopenia, Celiac disease, Recurrent upper... OMIM:615952
Immunodeficiency 17
Recurrent respiratory infections, Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD... OMIM:615607
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Inc... ORPHA:555905
Trimethylaminuria
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia OMIM:602079
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Recurrent pneumonia, Hepatosplenomegaly, Lymphadenopathy, Decreased circulatin... OMIM:619750
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgA level, Lymphadenitis, Splenomegaly, Leukocytosis, Hepatos... OMIM:260920
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Increased circula... ORPHA:3243
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Dec... ORPHA:381
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Igg4-Related Aortitis
Increased inflammatory response, Intestinal obstruction, Increased circulating IgG4 level, Abdomi... ORPHA:449400
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Prolidase Deficiency
Hepatomegaly, Eczema, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Crusting erythematous ... OMIM:170100
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Villous atrophy, Abnormal lymphocyte proliferation, Recurrent viral infection... OMIM:619573
Refractory Celiac Disease
Normocytic anemia, Villous atrophy, Inflammatory abnormality of the skin, Macrocytic anemia, Abdo... ORPHA:398063
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Increased circulating antibody level, Weight loss ORPHA:411593
Niemann-Pick Disease, Type A
Recurrent respiratory infections, Hepatomegaly, Elevated circulating aspartate aminotransferase c... OMIM:257200
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Pneumothorax, Bronchiectasis, Abnormal p... OMIM:612387
Desmoplastic Small Round Cell Tumor
Nausea and vomiting, Hepatomegaly, Abnormal peritoneum morphology, Neoplasm of the pancreas, Cach... ORPHA:83469
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Malabsorption,... ORPHA:77297
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormality of the spleen, Abnormal mesentery morphology, Tracheoesophageal fistula, In... ORPHA:93941
Hereditary Folate Malabsorption
Nausea and vomiting, Recurrent respiratory infections, Pancytopenia, Recurrent urinary tract infe... ORPHA:90045
Inflammatory Skin And Bowel Disease, Neonatal, 2
Pustule, Recurrent pneumonia, Secretory diarrhea, Increased circulating IgE level, Vomiting, Fail... OMIM:616069
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Bone Marrow Failure Syndrome 4
Recurrent respiratory infections, Decreased circulating antibody level, Anemia, Leukopenia, Bone ... OMIM:618116
Omenn Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Sepsis, Lymphadenopathy, Abnormal lymphoc... ORPHA:39041
Intestinal Dysmotility Syndrome
Projectile vomiting, Abdominal distention, Diarrhea, Decreased intestinal transit time, Feeding d... OMIM:620045
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... ORPHA:169105
Common Variable Immunodeficiency
Elevated hepatic transaminase, Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Aut... ORPHA:1572
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Intestinal pseudo-obstruction, Cachexia, Abdominal pain, Malabsorption, Abdominal distention, Gas... OMIM:613662
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Anorexia, Weight loss ORPHA:2023
Complement Component 5 Deficiency
Reduced hemolytic complement activity, Recurrent Neisserial infections, Intractable diarrhea, Gen... OMIM:609536
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Recurrent... ORPHA:829
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Congenital Disorder Of Glycosylation, Type Iir
Decreased proportion of CD4-positive T cells, Hepatomegaly, Jaundice, Micronodular cirrhosis, Dec... OMIM:301045
Macrophage Activation Syndrome
Hepatomegaly, Increased circulating interleukin 6 concentration, Splenomegaly, Thrombocytopenia, ... ORPHA:158061
Cystic Echinococcosis
Abdominal symptom, Abnormal peritoneum morphology, Hepatomegaly, Invasive parasitic infection, He... ORPHA:400
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Poor appetite, Abdomina... ORPHA:319218
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk... ORPHA:824
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Reduced natural killer cell activity, Splenomegaly,... OMIM:608233
Cronkhite-Canada Syndrome
Intestinal polyposis, Hepatomegaly, Anorexia, Abdominal pain, Malabsorption, Splenomegaly, Diarrh... ORPHA:2930
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent viral infections, Gastroesophageal reflux, Recurrent aspiration pneumonia, Psoriasiform... ORPHA:221139
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Lymphangiectasia, Intestinal
Lymphopenia, Intestinal lymphangiectasia, Decreased circulating IgG level, Malabsorption OMIM:152800
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Follicular hyperplasia, Increased circulating IgA level, Paratr... OMIM:615934
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob... OMIM:617780
Rhabdoid Tumor
Neoplasm of the liver, Thrombocytopenia, Anemia, Lymphadenopathy ORPHA:69077
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Recurrent bacterial infections, Complement deficienc... ORPHA:36412
Inflammatory Pseudotumor Of The Liver
Abdominal pain, Abdominal distention, Increased hepatitis B virus antibody level, Abnormal liver ... ORPHA:90003
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Eosinophilia, Hepatitis, Lymphadenopathy, I... ORPHA:139402
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Macronodular cirrhosis, Decreased circulating IgA level OMIM:215250
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Transcobalamin Ii Deficiency
Hepatomegaly, Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased... OMIM:275350
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Portal hypertension, Hypersplenism, Splenomegaly, Hepatitis, Decrease... OMIM:613385
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Ane... OMIM:612301
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Sepsis, Leukopenia, High palate, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegal... OMIM:612541
Mirage Syndrome
Recurrent urinary tract infections, Thrombocytopenia, Esophageal stricture, Chronic diarrhea, Hyp... OMIM:617053
Roifman Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Recurrent otitis ... OMIM:616651
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Normocytic anemia, Hepatomegaly, Anorexia, Malabsorption, Abnormalit... ORPHA:33226
Pulmonary Non-Tuberculous Mycobacterial Infection
Pleural effusion, Pneumothorax, Bronchiectasis, Lymphadenopathy ORPHA:411703
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Abdominal pain, Intestinal perforation, Pancreatitis, Rectal prolapse, Diarrhea,... ORPHA:90038
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Decreased circ... OMIM:610984
Esophagitis, Eosinophilic, 2
Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive OMIM:613412
Esophagitis, Eosinophilic, 1
Eosinophilia, Vomiting, Esophagitis, Dysphagia, Failure to thrive OMIM:610247
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abdominal pain ORPHA:46487
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Postinfectious Vasculitis
Anorexia, Severe varicella zoster infection, Recurrent candida infections, Gastrointestinal infla... ORPHA:48435
Bloom Syndrome
Recurrent herpes, Poor appetite, Severe varicella zoster infection, Uveitis, Gastroesophageal ref... ORPHA:125
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity ORPHA:98827
Medullary Thyroid Carcinoma
Neoplasm of the lung, Abnormal liver parenchyma morphology, Lymphadenopathy ORPHA:1332
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level OMIM:314000
Immunodeficiency 55
Absent natural killer cells, Recurrent infections, Lymphadenopathy, Neutropenia, Lymphopenia OMIM:617827
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Neuronal Intestinal Pseudoobstruction
Decreased circulating antibody level, Recurrent infections, Malabsorption ORPHA:99811
Pneumocystosis
Pneumocystis jirovecii pneumonia, Abnormal neutrophil count, Weight loss, Acute infectious pneumo... ORPHA:723
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Poor appetite, Skin rash, Weight loss, Arthritis, I... ORPHA:324964
Coccidioidomycosis
Abnormality of the spleen, Increased circulating IgG level, Abnormality of the liver, Morbillifor... ORPHA:228123
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Rift Valley Fever
Skin rash, Anorexia, Hematemesis, Thrombocytopenia, Jaundice, Severe viral infection, Hepatitis, ... ORPHA:319251
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Failure to thrive, Pancreatitis OMIM:615947
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Chronic myelomonocytic leuke... ORPHA:90280
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Intestinal obstruction, Malabsorption, Abdominal pain, Diarrhea, Decreased circulat... OMIM:226300
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... OMIM:617388
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Abdominal pain, Diarrhea, Recurrent infections, Colitis, Anoperineal fistula, Recurrent aphthous ... OMIM:613960
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Secondary Intestinal Lymphangiectasia
Abdominal colic, Intestinal obstruction, Intestinal lymphedema, Increased stool alpha1-antitrypsi... ORPHA:90363
Xq28 (MECP2) duplication
Recurrent respiratory infections, Feeding difficulties in infancy, Constipation, Gastroesophageal... DECIPHER:45
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Mogs-Cdg
Hepatomegaly, Hepatosplenomegaly, Decreased circulating antibody level, Decreased circulating tot... ORPHA:79330
Idiopathic Chronic Eosinophilic Pneumonia
Abnormality of the gastrointestinal tract, Leukocytosis, Increased circulating IgE level, Hypereo... ORPHA:2902
Chédiak-Higashi Syndrome
Recurrent staphylococcal infections, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer... ORPHA:167
Solitary Rectal Ulcer Syndrome
Anal fissure, Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Chronic con... ORPHA:209964
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Pustule, Increased circulating IgE level, Bloody diarrhea, Erythrode... OMIM:614328
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Myeloid leukemia, Nausea, Hepatomegaly, Neutrophilia, Abdominal pain, Leukocyt... ORPHA:98849
Familial Pancreatic Carcinoma
Nausea and vomiting, Pancreatic adenocarcinoma, Functional intestinal obstruction, Intestinal pse... ORPHA:1333
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g... ORPHA:1451
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Increased circulating IgG4 level, Increased circulating IgA level, Retroperitoneal fibr... ORPHA:79078
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Benign Recurrent Intrahepatic Cholestasis
Nausea and vomiting, Anorexia, Abdominal pain, Jaundice, Chronic diarrhea, Weight loss, Acholic s... ORPHA:65682
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Atelectasis, Bron... ORPHA:79126
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Increased circulating interleukin 8 concentration, Failure to thrive in infancy, Chronic diarrhea... OMIM:301220
Mitochondrial Neurogastrointestinal Encephalomyopathy
Abnormality of the gastrointestinal tract, Small intestinal dysmotility, Poor appetite, Abdominal... ORPHA:298
Dyskeratosis Congenita, Digenic
Failure to thrive, Recurrent infections, Decreased circulating total IgM, Gastroesophageal reflux... OMIM:620040
Shwachman-Diamond Syndrome
Normocytic anemia, Sinusitis, Aplastic anemia, Transient neutropenia, Recurrent viral infections,... ORPHA:811
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Fetal ascites, Hepatomegaly OMIM:619462
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Cholangitis, Feeding difficulties in infancy, Colitis, Vomiting, Neu... ORPHA:3260
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent Haemophilus influenzae infections, Chronic sinusitis, Recurrent bronchitis, Otitis media OMIM:300455
Pyomyositis
Recurrent cutaneous abscess formation, Myositis, Leukocytosis, Sepsis, Weight loss, Recurrent inf... ORPHA:764
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Intestinal perforation, Secretory diarrhea, Bl... ORPHA:544482
Tick-Borne Encephalitis
Anorexia, Thrombocytopenia, Leukocytosis, Meningitis, Unusual CNS infection, Increased circulatin... ORPHA:297
Tyrosinemia Type 1
Splenomegaly, Hepatocellular carcinoma, Hepatomegaly ORPHA:882
Scrub Typhus
Splenomegaly, Meningitis, Infectious encephalitis, Lymphadenopathy ORPHA:83317
Q Fever
Anorexia, Abnormality of the liver, Cholecystitis, Meningitis, Infectious encephalitis, Hepatomeg... ORPHA:781
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent respiratory infections, Thrombocytopenia, Sepsis, Hepatosplenomegaly, Macroglossia, Inc... ORPHA:505248
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Recurrent bacterial infections, Neutropenia, Decreased platelet glycoprote... OMIM:603585
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Failure to thrive, Increased circulating IgA level, Pyloric stenosis, Feeding diffic... OMIM:616395
Ige Responsiveness, Atopic
Increased circulating IgE level, Eczema, Allergic rhinitis OMIM:147050
Vici Syndrome
Lymphopenia, Failure to thrive, Recurrent respiratory infections, Recurrent viral infections, Dec... OMIM:242840
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Thyroid Lymphoma
Lymphadenopathy ORPHA:97285
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Legionnaires Disease
Abnormal pleura morphology, Recurrent pharyngitis, Abnormal lung morphology, Splenomegaly, Jaundi... ORPHA:549
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy ORPHA:2221
Tuberculosis
Weight loss ORPHA:3389
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Neutropenia, Gout, Recurrent bacterial infection... OMIM:232220
Ataxia-Telangiectasia
Decreased circulating IgG level, Lymphopenia, Acute lymphoblastic leukemia, T lymphocytopenia, Hy... OMIM:208900
Wiskott-Aldrich Syndrome
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Sepsis, Inflammation of the large i... ORPHA:906
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Reduced natural killer cell activity, Splenomegaly, Thrombocytopenia,... OMIM:603553
Acquired Partial Lipodystrophy
Hepatic steatosis, Lymphocytosis ORPHA:79087
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, High palate, Vomiting OMIM:616809
Pseudo-Torch Syndrome 3
Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia OMIM:618886
Wilson Disease
Acute hepatic failure, Hepatomegaly, Thrombocytopenia, Splenomegaly, Jaundice, Hepatitis, Increas... ORPHA:905
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Infectious encephalitis, Lymphadenopathy ORPHA:3386
Mevalonic Aciduria
Normocytic hypoplastic anemia, Failure to thrive, Skin rash, Failure to thrive in infancy, Fluctu... OMIM:610377
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Peritonitis, Lymphadenopathy, Increased circulating IgA level ORPHA:343
Melioidosis
Brain abscess, Lung abscess, Liver abscess, Pneumonia, Respiratory tract infection, Abnormality o... ORPHA:31202
Acute Promyelocytic Leukemia
Pancytopenia, Anorexia, Abdominal pain, Chronic infection, Thrombocytopenia, Leukocytosis, Lympha... ORPHA:520
Castleman Disease
Nausea and vomiting, Abnormality of the gastrointestinal tract, Intestinal obstruction, Increased... ORPHA:160
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Malt Lymphoma
Mediastinal lymphadenopathy, Recurrent respiratory infections, Anemia, Lymphadenopathy ORPHA:52417
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Complete or near-complete absence of specific antibody response to unconjugated pne... OMIM:233600
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Intermittent jaundice, Reticulocytosis OMIM:179700
Anterior Cutaneous Nerve Entrapment Syndrome
Recurrent urinary tract infections, Anorexia, Abdominal pain, Abdominal distention, Leukocytosis,... ORPHA:51890
Rasmussen Subacute Encephalitis
Decreased circulating total IgA ORPHA:1929
Cap Polyposis
Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Hematochezia, Co... ORPHA:160148
Eosinophilic Fasciitis
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Weight loss, Arthritis ORPHA:3165
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Generalized lymphadenopathy, Thrombocytopenia, Cervi... ORPHA:50918
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Splenomegaly, Hepatic steatosis, Decreased circulating IgA level OMIM:613327
Pancreatoblastoma
Jaundice, Pancreatic calcification, Abnormal lymph node morphology ORPHA:677
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Abnormality of T cell physiology, Generalized lymphadenopathy, Pancytopenia, Anorex... OMIM:181000
Riddle Syndrome
Generalized lymphadenopathy, Decreased circulating total IgM, Decreased circulating IgG level, De... ORPHA:420741
Caroli Disease
Liver abscess, Cholangitis, Anorexia, Vomiting, Hepatic fibrosis, Nausea, Hepatomegaly, Portal hy... ORPHA:53035
Anaplastic Thyroid Carcinoma
Neoplasm of the lung, Lymphadenopathy ORPHA:142
Smith-Kingsmore Syndrome
Thrombocytopenia, Decreased circulating IgA level OMIM:616638
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Decreased circulating antibody level, Recurre... OMIM:248500
Macrocephaly/Autism Syndrome
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Decreased circulating antibody le... OMIM:605309
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Angular cheilitis, Poor appetite, Megaloblastic... ORPHA:35858
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... ORPHA:2968
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Abnormality of the spleen, Sepsis, Vom... ORPHA:2552
Malignant Peritoneal Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Ileus, Weight loss ORPHA:168811
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Portal hypertension, Exocrine pancreatic... OMIM:620005
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... OMIM:300908
Lig4 Syndrome
Hepatomegaly, Pancytopenia, Leukocytosis, Lymphadenopathy, Acute leukemia ORPHA:99812
Generalized Pseudohypoaldosteronism Type 1
Osteomyelitis, Failure to thrive in infancy, Feeding difficulties in infancy, Pustule, Recurrent ... ORPHA:171876
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Leukopenia, Hemophagocyt... OMIM:267700
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
Rat-Bite Fever
Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Lymphadenitis, Pustule, Myoca... ORPHA:31205
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Diffuse alveolar hemorrhage, Pulmonary capillary hemangiomatosis, Mediastinal ly... ORPHA:199241
Pemphigus Vulgaris
Feeding difficulties in infancy, Recurrent cutaneous abscess formation, Recurrent infections, Wei... ORPHA:704
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Acute Generalized Exanthematous Pustulosis
Elevated hepatic transaminase, Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenop... ORPHA:293173
Congenital Disorder Of Glycosylation, Type Iib
Hepatomegaly, Decreased circulating IgA level, Decreased circulating antibody level OMIM:606056
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Generalized lymphadenopathy OMIM:620232
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... OMIM:619767
Lambert Syndrome
Jaundice, Intrahepatic biliary atresia, Cholestasis, Decreased circulating antibody level ORPHA:1296
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Lymphadenopathy, Decreased circulating antibody le... ORPHA:29073
Nodular Non-Suppurative Panniculitis
Nausea and vomiting, Hepatomegaly, Abdominal pain, Splenomegaly, Weight loss, Panniculitis, Infla... ORPHA:33577
Chronic Beryllium Disease
Mediastinal lymphadenopathy, Weight loss, Lymphocytic interstitial pneumonia, Abnormal proportion... ORPHA:133
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss, Panniculitis, Hemophagocytosis, Hepatosplenomegaly ORPHA:86884
Linear Iga Dermatosis
Inflammation of the large intestine ORPHA:46488
Igg4-Related Submandibular Gland Disease
Cholangitis, Increased circulating IgG4 level, Eosinophilia, Retroperitoneal fibrosis, Increased ... ORPHA:449432
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Eczema, Abdominal pain, Celiac disease, Abdominal distention, Diarrhea, Thyroi... OMIM:212750
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Bronchiectasis, Weight loss ORPHA:1164
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Infantile Systemic Hyalinosis
Abnormality of the gastrointestinal tract, Malabsorption, Chronic diarrhea, Feeding difficulties,... ORPHA:2176
Crimean-Congo Hemorrhagic Fever
Anorexia, Increased circulating IgG level, Leukopenia, Conjunctivitis, Cholecystitis, Morbillifor... ORPHA:99827
Myeloma, Multiple
Paraproteinemia OMIM:254500
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Weight loss, Iron deficiency anemia, Keratoconjun... ORPHA:309031
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Failure to thrive, Chronic neutropenia, Diarrhea, Hepatocellular adenoma, Enterocol... ORPHA:79259
Mixed Connective Tissue Disease
Hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Splenomegaly, Abnormal pulmonary int... ORPHA:809
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Anorexia, Abdominal pain, Malabsorption, Cachexia, Diarrhea, Xerostomia, Hamartomatous polyposis,... OMIM:175500
Icf Syndrome
Recurrent respiratory infections, Abnormality of neutrophils, Malabsorption, Protruding tongue, D... ORPHA:2268
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Meconium ileus, Ma... ORPHA:586
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Intestinal malrotation, Asplenia, Recurrent mycobacterial inf... ORPHA:244
Interstitial Lung Disease 2
Increased circulating antibody level, Cirrhosis OMIM:178500
Bone Dysplasia, Lethal Holmgren Type
Nausea and vomiting, Hepatomegaly, Recurrent respiratory infections, Diarrhea, Weight loss, Failu... ORPHA:1842
Juvenile Arthritis
Thrombocytosis, Leukocytosis, Skin rash OMIM:618795
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Diarrhea, Feeding difficulties, Weight loss, Vomiting, Failure to thrive OMIM:612075
Hereditary Amyloidosis With Primary Renal Involvement
Abnormality of the gastrointestinal tract, Dyspepsia, Gastrointestinal hemorrhage, Intestinal obs... ORPHA:85450
Yellow Fever
Acute pancreatitis, Increased circulating interleukin 6 concentration, Skin rash, Neutrophilia, A... ORPHA:99829
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Atelectasis, Leukocytosis, Mediastinal lymphadenopathy, Abnormal pulmonary intersti... OMIM:620233
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Portal hypertension, Hepatomegaly OMIM:617068
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Anorexia, Abdominal pain, Hypersplenism, Thrombocytopenia, Osteoarthr... ORPHA:77259
Graft Versus Host Disease
Fasciitis, Myositis, Gastrointestinal inflammation, Vomiting, Acute hepatitis, Nausea, Maculopapu... ORPHA:39812
Japanese Encephalitis
Neutrophilia, Anorexia, Abdominal pain, Meningitis, Diarrhea, Increased circulating IgM level, Vo... ORPHA:79139
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Keratitis, Meningitis, Increased circulating I... ORPHA:1163
Alveolar Echinococcosis
Liver abscess, Cholangitis, Portal hypertension, Abdominal pain, Hepatic cysts, Eosinophilia, Abn... ORPHA:284
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Lymphadenopathy, Hep... OMIM:615688
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis, Conjunctivitis, Allergic rhinitis ORPHA:26137
Idiopathic Bronchiectasis
Cachexia, Bronchiectasis, Recurrent Haemophilus influenzae infections, Acute infectious pneumonia... ORPHA:60033
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Generalized lymphadenopathy, Bloody diarrhea, Hepatic steatosis, Hemolytic an... OMIM:615846
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia OMIM:182410
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis, Severe infection ORPHA:206594
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Recur... OMIM:619463
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:607143
Ataxia-Telangiectasia
Lymphopenia, Aplasia/Hypoplasia of the thymus, Decreased circulating antibody level ORPHA:100
Whipple Disease
Gastrointestinal hemorrhage, Hepatomegaly, Myositis, Pericarditis, Anorexia, Abdominal pain, Mala... ORPHA:3452
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n... OMIM:608203
Meige Disease
Lymph node hypoplasia, Recurrent bacterial skin infections, Absence of lymph node germinal center ORPHA:90186
Plague
Chapped lip, Anorexia, Lymphadenitis, Sepsis, Bloody diarrhea, Acute infectious pneumonia, Inflam... ORPHA:707
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Abdominal pain, Mi... OMIM:619377
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Chronic noninfectious lymphadenopathy, Bowel urgency, Abdominal pain, Anorexia, Lac... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Chronic noninfectious lymphadenopathy, Bowel urgency, Abdominal pain, Anorexia, Lac... ORPHA:100082
Netherton Syndrome
Recurrent respiratory infections, Skin rash, Eczema, Malabsorption, Increased circulating IgE lev... ORPHA:634
Chromomycosis
Recurrent bacterial infections, Lymphangiectasis ORPHA:182
Peritoneal Cystic Mesothelioma
Abdominal pain, Abdominal distention, Peritonitis, Weight loss, Constipation ORPHA:168816
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatic steatosis, Necrotizing enterocolitis, Hepatomegaly, Hepatocellular necrosis, Periportal f... OMIM:201475
Adenocarcinoma Of The Anal Canal
Neoplasm of the lung, Neoplasm of the liver, Lymphadenopathy ORPHA:424016
Lysinuric Protein Intolerance
Tubulointerstitial nephritis, Leukopenia, Vomiting, Hepatomegaly, Decreased circulating antibody ... ORPHA:470
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili... OMIM:615508
Chronic Hiccup
Malnutrition, Weight loss ORPHA:396
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Chronic noninfectious lymphadenopathy, Bowel urgency, Abdominal pain, Anorexia, Lac... ORPHA:100080
Bullous Pemphigoid
Psoriasiform dermatitis, Recurrent infections, Eczema, Weight loss ORPHA:703
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Invasive parasitic infection, Splenomegaly, Opportunistic bacterial i... ORPHA:158048
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... ORPHA:100086
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Chronic infection, Leukocytosis, Abnorma... ORPHA:86839
Nk-Cell Enteropathy
Colonic diverticula, Duodenal ulcer, Abdominal pain, Abnormal gastric mucosa morphology, Diarrhea... ORPHA:263665
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Multiple pulmonary cysts, Hepatomegaly, Microvesicular hepatic steatosis, Splen... OMIM:619418
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Paraproteinemia, Recurrent infections, Decreased circul... ORPHA:329918
Alg12-Cdg
Recurrent respiratory infections, Intestinal malrotation, Partial absence of specific antibody re... ORPHA:79324
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia, Erythroderma OMIM:270300
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level ORPHA:457485
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Hepatic fibrosis, Thrombocytosis, Decreased circulating IgG level, Hepatic steatosi... OMIM:212065
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Huntington Disease-Like 2
Weight loss ORPHA:98934
Neuroendocrine Tumor Of Stomach
Nausea and vomiting, Hepatomegaly, Chronic noninfectious lymphadenopathy, Poor appetite, Anorexia... ORPHA:100075
Takayasu Arteritis
Increased inflammatory response, Anorexia, Weight loss, Arthritis, Gastrointestinal infarctions, ... ORPHA:3287
Toxic Epidermal Necrolysis
Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Recurrent respiratory in... ORPHA:537
Reactive Arthritis
Pericarditis, Osteomyelitis, Recurrent urinary tract infections, Abdominal pain, Pustule, Diarrhe... ORPHA:29207
Thymic Carcinoma
Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss ORPHA:99868
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Recurrent respiratory infections, Aganglionic megacolon, Malabsorption, Abnormality of the pancre... ORPHA:935
Adult-Onset Nemaline Myopathy
High palate, Paraproteinemia, Neuromuscular dysphagia, Feeding difficulties ORPHA:171442
Lymphatic Filariasis
Circulating immune complexes, Lymphadenitis, Opportunistic bacterial infection, Abnormality of th... ORPHA:2035
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port... ORPHA:64743
Oculopharyngodistal Myopathy
Oral-pharyngeal dysphagia, High, narrow palate, Weight loss, High palate, Impaired oropharyngeal ... ORPHA:98897
Beta-Thalassemia Intermedia
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Diffuse Alveolar Hemorrhage
Leukocytosis, Weight loss, Anemia, Decreased circulating complement C3 concentration, Decreased c... ORPHA:90060
Igg4-Related Kidney Disease
Lymphadenitis, Tubulointerstitial nephritis, Increased circulating IgG level, Cholecystitis, Decr... ORPHA:449395
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Celiac disease, Iridocyclitis... ORPHA:227990
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Vomiting, Hepat... ORPHA:275761
Bloom Syndrome
Elevated hemoglobin A1c, Decreased circulating total IgM, Leukemia, Decreased circulating IgG lev... OMIM:210900
Systemic Capillary Leak Syndrome
Pericarditis, Abdominal pain, Myocarditis, Diarrhea, Leukocytosis, Weight loss, Pancreatitis ORPHA:188
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Cachexia, Abdominal pain, Inte... OMIM:603041
Autosomal Dominant Hyper-Ige Syndrome
Recurrent respiratory infections, Osteomyelitis, Skin rash, Eczema, Eosinophilia, Increased circu... ORPHA:2314
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... ORPHA:766
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Ileal Neuroendocrine Tumor
Intestinal fistula, Functional intestinal obstruction, Gastrointestinal obstruction, Extrahepatic... ORPHA:100078
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Failure to thrive, Recurrent respiratory infecti... OMIM:618278
Caroli Syndrome
Liver abscess, Cholangitis, Sepsis, Abnormal intrahepatic bile duct morphology, Leukopenia, Hepat... ORPHA:480520
Hereditary Orotic Aciduria
Splenomegaly, Recurrent respiratory infections, Impaired T cell function, Anemia ORPHA:30
Congenital Enterocyte Heparan Sulfate Deficiency
Abdominal distention, Diarrhea, Weight loss, Hematochezia, Protein-losing enteropathy ORPHA:103910
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy, Leukopenia, Decreased circulating complement C3 concentration, Microangiopathic ... ORPHA:93552
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Decreased circulating antibody level OMIM:616910
Holocarboxylase Synthetase Deficiency
Nausea and vomiting, Eczema, Anorexia, Keratoconjunctivitis, Weight loss, Thrombocytopenia, Perio... ORPHA:79242
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Anorexia, Weight loss ORPHA:1302
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Abdominal pain, Orchitis, Splenomegaly, Diarrhea, Perit... OMIM:249100
Stevens-Johnson Syndrome
Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Recurrent respiratory in... ORPHA:36426
Thymic Neuroendocrine Tumor
Neoplasm of the thymus, Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Chronic nonin... ORPHA:97289
Al Amyloidosis
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Hepatomegaly, Gastropares... ORPHA:85443
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Celiac disease, Iridocyclitis... ORPHA:227982
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Bronchiectasis, Inflammation of the large intestine, Rectovaginal fistula, Dysphagia, Lymphopenia... OMIM:619708
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Abdominal pain, Portal vein throm... ORPHA:729
Late-Onset Isolated Acth Deficiency
Nausea and vomiting, Normocytic anemia, Macrocytic anemia, Eosinophilia, Anorexia, Abdominal pain... ORPHA:199299
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Visceral Myopathy 1
Intestinal pseudo-obstruction, Aganglionic megacolon, Gastroparesis, Abdominal pain, Abdominal di... OMIM:155310
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Eosinophilic Granulomatosis With Polyangiitis
Nausea and vomiting, Increased inflammatory response, Myositis, Sinusitis, Intestinal obstruction... ORPHA:183
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspepsia, Recurrent respiratory infections, Esophageal stenosis, Hypoperistalsis, Keratitis, Eso... ORPHA:1018
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Recurrent upper respiratory tract infections, Anemia, Hepatomegaly OMIM:620296
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Acute pancreatitis, Pericarditis, Hepatomegaly, Chilblains, Portal hypertension... OMIM:619487
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level ORPHA:85317
Kindler Epidermolysis Bullosa
Recurrent skin infections, Esophageal stricture, Cheilitis, Inflammation of the large intestine, ... ORPHA:2908
Caffey Disease
Increased circulating antibody level ORPHA:1310
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Myositis, Pericarditis, Skin rash, Intestinal obstruction, Abdominal pain, Orchitis, S... ORPHA:32960
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting, Weight loss ORPHA:30925
Carney Triad
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:139411
Central Diabetes Insipidus
Nausea and vomiting, Anorexia, Diarrhea, Weight loss, Failure to thrive ORPHA:178029
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... OMIM:314050
Leukocyte Adhesion Deficiency Type Ii
Hepatomegaly, Chronic lymphocytic meningitis, Neutrophilia, Severe periodontitis, Small for gesta... ORPHA:99843
Lymphoid Interstitial Pneumonia
Hepatomegaly, Skin rash, Eczema, Mediastinal lymphadenopathy, Severe viral infection, Bronchiecta... ORPHA:79128
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Chronic Granulomatous Disease
Recurrent respiratory infections, Hepatomegaly, Liver abscess, Abnormality of neutrophils, Spleno... ORPHA:379
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Abdominal pain, Pustule, Recurrent skin ... ORPHA:793
Congenital Factor Xiii Deficiency
Inflammation of the large intestine, Hepatic failure, Myeloid leukemia ORPHA:331
Glycogen Storage Disease Ic
Hepatomegaly, Stomatitis, Cyclic neutropenia, Chronic pancreatitis, Recurrent upper respiratory t... OMIM:232240
Generalized Pustular Psoriasis
Pustule, Overweight, Leukocytosis, Cheilitis, Uveitis, Obesity, Sepsis, Arthritis, Palmoplantar p... ORPHA:247353
Gm1 Gangliosidosis
Recurrent respiratory infections, Splenomegaly, Feeding difficulties, Hepatosplenomegaly, Macrogl... ORPHA:354
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Isaacs Syndrome
Weight loss ORPHA:84142
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, Decreased circ... OMIM:616084
Maternal Uniparental Disomy Of Chromosome 1
Hepatomegaly, Pancytopenia, Panhypogammaglobulinemia ORPHA:251009
Insulin-Resistance Syndrome Type B
Skin rash, Pneumonia, Decreased circulating complement factor B concentration, Increased circulat... ORPHA:2298
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia... OMIM:607944
Alexander Disease Type I
Failure to thrive, Vomiting, Cachexia, Dysphagia ORPHA:363717
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level ORPHA:1116
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Poems Syndrome
Thrombocytosis, Increased circulating antibody level, Polycythemia, Lymphadenopathy ORPHA:2905
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections, Anemia OMIM:244460
Lynch Syndrome
Intestinal polyposis, Nausea and vomiting, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma... ORPHA:144
Igg4-Related Pachymeningitis
Eosinophilia, Increased circulating IgG4 level, Lymphadenitis, Complement deficiency, Pancreatitis ORPHA:449427
Necrotizing Enterocolitis
Neonatal sepsis, Small for gestational age, Abdominal distention, Diarrhea, Peritonitis, Leukocyt... ORPHA:391673
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Tubulointerstitial nephritis, ... ORPHA:289390
Lead Poisoning
Skin rash, Small for gestational age, Anorexia, Abdominal pain, Abdominal distention, Increased c... ORPHA:330015
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy OMIM:251240
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Abdominal pain, Diarrhea, Xerostom... OMIM:617321
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis ORPHA:71493
Attrv30M Amyloidosis
Diarrhea, Constipation, Weight loss ORPHA:85447
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Malignant Atrophic Papulosis
Nausea and vomiting, Intestinal fistula, Gastrointestinal hemorrhage, Abdominal pain, Intestinal ... ORPHA:679
Hermansky-Pudlak Syndrome 1
Hematochezia, Inflammation of the large intestine, Colitis, Abdominal pain OMIM:203300
Symptomatic Form Of Hfe-Related Hemochromatosis
Cholangiocarcinoma, Hepatomegaly, Portal hypertension, Abdominal pain, Splenomegaly, Weight loss,... ORPHA:465508
Congenital Enterovirus Infection
Abnormal macrophage morphology, Skin rash, Myocarditis, Leukocytosis, Thrombocytopenia, Meningiti... ORPHA:292
Nocardiosis
Liver abscess, Anorexia, Lymphadenitis, Sepsis, Conjunctivitis, Vomiting, Meningitis, Infectious ... ORPHA:31204
Behçet Disease
Myositis, Anorexia, Infectious encephalitis, Meningitis, Acne, Abdominal pain, Retrobulbar optic ... ORPHA:117
Wolcott-Rallison Syndrome
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Iron deficiency ane... ORPHA:1667
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Thr... ORPHA:31150
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Sandifer Syndrome
Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ... ORPHA:71272
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Iridocyclitis, Knee osteoarthritis, Oligoarthritis, Synovitis, Uveitis, Enthesitis, Arthritis, He... ORPHA:85408
Dubowitz Syndrome
Acute lymphoblastic leukemia, Decreased circulating IgG level, Aplastic anemia, Decreased circula... OMIM:223370
Familial Colorectal Cancer Type X
Nausea and vomiting, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Neoplasm of the panc... ORPHA:440437
Erythrokeratodermia Variabilis
Skin rash, Weight loss ORPHA:317
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Cholestasis, Feeding difficulties, Hepatosplenomegaly, Recurrent infections, Hepatic fibrosis, Es... ORPHA:541423
Thrombocytopenia 1
Eczema, Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet... OMIM:313900
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... ORPHA:100085
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Refractory anemia, Cachexia, Abdominal pain, High, narrow palate, Re... ORPHA:79076
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Monosomy 18Q
Decreased circulating IgA level ORPHA:1600
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Recurrent respiratory infections, Cachexia ORPHA:1389
Grfoma
Poor appetite, Anorexia, Neoplasm of the thymus, Lack of bowel sounds, Zollinger-Ellison syndrome... ORPHA:97261
Spinocerebellar Ataxia 48
Cachexia, Dysphagia OMIM:618093
Fumarase Deficiency
Necrotizing enterocolitis, Failure to thrive, Intrahepatic cholestasis, High palate, Hepatic fail... OMIM:606812
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Hennekam Syndrome
Recurrent respiratory infections, Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Decr... ORPHA:2136
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Gaucher Disease Type 3
Recurrent respiratory infections, Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Inc... ORPHA:77261
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... OMIM:139090
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Decreased circulating IgA level ORPHA:369837
Giant Cell Arteritis
Pericarditis, Anorexia, Abdominal pain, Mediastinal lymphadenopathy, Meningitis, Recurrent pharyn... ORPHA:397
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Microcytic anemia, Increased circulating inter... OMIM:256040
Glucagonoma
Poor appetite, Anorexia, Lack of bowel sounds, Hepatomegaly, Acanthocytosis, Episodic abdominal p... ORPHA:97280
Bronchial Neuroendocrine Tumor
Hepatomegaly, Pneumonia, Bowel urgency, Poor appetite, Anorexia, Chronic noninfectious lymphadeno... ORPHA:97287
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina... OMIM:266200
Somatostatinoma
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Hepatomegaly, Neoplasm ... ORPHA:97283
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Aredyld Syndrome
Splenomegaly, Hepatomegaly, Cachexia ORPHA:1133
Systemic Lupus Erythematosus
Hemolytic anemia, Lymphadenopathy, Leukopenia, Decreased circulating complement C3 concentration,... ORPHA:536
Psoriasis 14, Pustular
Psoriasiform dermatitis, Neutrophilia, Cholangitis, Pustule, Leukocytosis, Oligoarthritis, Furrow... OMIM:614204
Wild Type Attr Amyloidosis
Hepatomegaly, Bowel incontinence, Gastrointestinal dysmotility, Chronic diarrhea, Weight loss, In... ORPHA:330001
Radiation Proctitis
Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ... ORPHA:70475
Cherubism
Submandibular lymph node enlargement OMIM:118400
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Gastroesophageal Reflux
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis OMIM:109350
Farber Disease
Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Recurrent upper respiratory tr... ORPHA:333
Huntington Disease-Like 2
Weight loss OMIM:606438
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Failure to thrive, Intestinal malrotation, Hiatus hernia, Esophageal atresia, Abnor... ORPHA:2538
Ppoma
Nausea and vomiting, Gastrointestinal hemorrhage, Intestinal obstruction, Hepatomegaly, Neoplasm ... ORPHA:97278
Christianson Syndrome
Feeding difficulties in infancy, Gastroesophageal reflux, Cachexia, Dysphagia ORPHA:85278
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Spondyloarthropathy, Susceptibility To, 1
Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ... OMIM:106300
Diamond-Blackfan Anemia 7
Macrocytic anemia, Cleft palate, Recurrent infections, Increased mean corpuscular volume, Esophag... OMIM:612562
Polymyositis
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Anorexia, Abdominal pain, Weight loss, A... ORPHA:732
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Mednik Syndrome
Jejunal atresia, Diarrhea, Cholestasis, Hepatic fibrosis, Cirrhosis, Volvulus, Microcolon OMIM:609313
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Tropical Pancreatitis
Pancreatic adenocarcinoma, Jaundice, Malnutrition, Pancreatic calcification, Weight loss, Chronic... ORPHA:103918
Focal Myositis
Myositis, Weight loss ORPHA:48918
Lymphangioleiomyomatosis
Recurrent respiratory infections, Atelectasis, Pneumothorax, Abnormality of the lymphatic system,... ORPHA:538
Neuroblastoma, Susceptibility To, 1
Abdominal pain, Diarrhea, Weight loss, Failure to thrive, Anemia OMIM:256700
Acrodermatitis Enteropathica
Glossitis, Poor appetite, Anorexia, Pustule, Malabsorption, Chronic diarrhea, Cheilitis, Furrowed... ORPHA:37
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hepatomegaly, Aganglionic megacolon, Abdominal pain, Splenomegaly, Ileus, Constipation, Microcolon ORPHA:163746
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Acute pancreatitis, Anorexia, Reye syndrome-like episodes, Diarrhea, Leukocytosis, ... ORPHA:20
Bone Marrow Failure Syndrome 5
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Decreased circulating antibody level OMIM:618165
H Syndrome
Microcytic anemia, Recurrent pharyngitis, Lymphadenopathy, Hepatosplenomegaly, Histiocytosis ORPHA:168569
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo... ORPHA:97286
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia, Feeding difficulties ORPHA:157973
Moynahan Syndrome
Cachexia ORPHA:2574
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Retroperitoneal fibrosis, Splenomegaly, Cervical lymphadenopathy, Lymphadenopathy, ... OMIM:602782
Marburg Hemorrhagic Fever
Anorexia, Odynophagia, Uveitis, Bloody diarrhea, Leukopenia, Vomiting, Abnormal lymphocyte morpho... ORPHA:99826
Familial Mediterranean Fever
Acute hepatic failure, Splenomegaly, Peritonitis, Lymphadenopathy, Pleuritis, Pancreatitis ORPHA:342
Hypercalcemia, Infantile, 1
Failure to thrive, Vomiting, Weight loss OMIM:143880
Beta-Ketothiolase Deficiency
Hepatomegaly, Anorexia, Leukocytosis, Diarrhea, Weight loss, Vomiting, Thrombocytosis ORPHA:134
Elliptocytosis 1
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis OMIM:611804
Peripheral Primitive Neuroectodermal Tumor
Nausea and vomiting, Neoplasm of the pancreas, Anorexia, Abdominal distention, Jaundice, Episodic... ORPHA:370348
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cachexia, Diarrhea, Vomiting, Decreased liver function, Hepatic steatosis ORPHA:42
Congenital Analbuminemia
Small for gestational age, Recurrent lower respiratory tract infections, Increased circulating an... ORPHA:86816
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Impaired ADP-in... OMIM:153670
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Nausea and vomiting, Abnormality of the gastrointestinal tract, Intestinal malrotation, Hypoperis... ORPHA:2241
Loeffler Endocarditis
Pericarditis, Eosinophilia, Weight loss ORPHA:75566
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Microcolon, Intestinal malrotation, Portal hypertension, Hepatic failure OMIM:619431
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Ileal atresia, Abdominal distention, Peritonitis, Pyelonephritis, Recurrent infections, Microcolon OMIM:619351
Juvenile Huntington Disease
Weight loss ORPHA:248111
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating Ig... ORPHA:508533
Sarcoidosis
Abnormal lung morphology, Increased T cell count, Leukopenia, Emphysema, Hemolytic anemia, Hepato... ORPHA:797
Granulomatosis With Polyangiitis
Nausea and vomiting, Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Intestinal obstruction... ORPHA:900
Polyarteritis Nodosa
Abnormality of the gastrointestinal tract, Pericarditis, Weight loss, Abdominal pain ORPHA:767
Subcorneal Pustular Dermatosis
Pustule, Increased circulating antibody level, Rheumatoid arthritis ORPHA:48377
Renpenning Syndrome
High, narrow palate, Cachexia, Anal atresia, Cleft palate ORPHA:3242
Huntington Disease
Weight loss, Decreased body mass index, Oral-pharyngeal dysphagia ORPHA:399
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss, Poor appetite, Erythroderma ORPHA:312
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Increased circulating IgG4 level, Eosinophilia, Keratitis, Orchitis, Retr... ORPHA:449563
Vipoma
Nausea and vomiting, Hepatomegaly, Neoplasm of the pancreas, Poor appetite, Anorexia, Malabsorpti... ORPHA:97282
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Familial Glucocorticoid Deficiency
Recurrent urinary tract infections, Anorexia, Diarrhea, Episodic abdominal pain, Weight loss, Rec... ORPHA:361
Ring Chromosome 10 Syndrome
Aganglionic megacolon, Cachexia ORPHA:1438
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Riboflavin Transporter Deficiency
Cachexia, Dysphagia ORPHA:97229
Nijmegen Breakage Syndrome
Hemolytic anemia, Anal stenosis, Autoimmune hemolytic anemia, Recurrent sinopulmonary infections,... ORPHA:647
Spondyloepimetaphyseal Dysplasia, Krakow Type
Allergic rhinitis, Eczema, Feeding difficulties, Decreased circulating total IgM, Constipation, H... OMIM:618162
Kawasaki Disease
Recurrent pharyngitis, Leukocytosis, Cervical lymphadenopathy, Jaundice, Hepatitis, Cholecystitis... ORPHA:2331
Cocaine Intoxication
Glomerulonephritis, Abdominal pain, Intestinal perforation, Bloody diarrhea, Tubulointerstitial n... ORPHA:90068
Urban-Rogers-Meyer Syndrome
Increased circulating IgE level, Obesity ORPHA:3409
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Constipation, Failure to thrive in infancy, Cachexia, Feeding difficulties OMIM:616801
Ring Chromosome 21 Syndrome
Decreased circulating antibody level ORPHA:1445
Alopecia Antibody Deficiency
Decreased circulating antibody level ORPHA:1006
Zollinger-Ellison Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Diarrhea, Jaun... ORPHA:913
Autosomal Recessive Malignant Osteopetrosis
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Pulmonary artery stenosis, Lymphade... ORPHA:667
Pelizaeus-Merzbacher Disease
Cachexia, Failure to thrive in infancy, Recurrent respiratory infections, Bowel incontinence ORPHA:702
Glucose-Galactose Malabsorption
Abdominal distention, Diarrhea, Hyperactive bowel sounds, Malnutrition, Weight loss, Vomiting, Fa... ORPHA:35710
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Cachexia, Malabsorption, Chronic diarrhea, Steatorrhea ORPHA:3217
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Encephalitis Lethargica
Increased circulating antibody level, Bowel incontinence, Recurrent viral infections ORPHA:83600
Liposarcoma
Nausea and vomiting, Weight loss, Abdominal pain ORPHA:69078
Hypotrichosis Simplex Of The Scalp
Atopic dermatitis, Allergic rhinitis, Increased circulating IgE level ORPHA:90368
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Ileus, Constipation, Cachexia ORPHA:52503
Tetrasomy 12P
Abnormal soft palate morphology, Cachexia, Anal atresia ORPHA:884
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss, Aspiration pneumonia, Dysphagia ORPHA:216866
Liver Disease, Severe Congenital
Biliary hyperplasia, Leukopenia, Lymphocytosis, Elevated hepatic iron concentration, Pancreatic h... OMIM:619991
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections, Bifid uvula OMIM:241410
Isolated Succinate-Coq Reductase Deficiency
Feeding difficulties in infancy, Weight loss ORPHA:3208
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Neoplasm of the liver, Constipation, Weight loss ORPHA:2126
Esophageal Atresia
Recurrent respiratory infections, Barrett esophagus, Small for gestational age, Intestinal malrot... ORPHA:1199
Chronic Graft Versus Host Disease
Fasciitis, Pancytopenia, Anorexia, Abdominal pain, Urinary bladder inflammation, Esophageal stric... ORPHA:99921
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Keratitis, Uveitis, Weight loss, Granulomatosis, Conjunctivitis, Chronic... OMIM:608710
Non-Functioning Paraganglioma
Weight loss, Nausea, Episodic abdominal pain ORPHA:94080
Mcdonough Syndrome
Cachexia ORPHA:2471
Schimke Immunoosseous Dysplasia
Pancytopenia, Abnormal immunoglobulin level, Thrombocytopenia, Abnormal T cell morphology, Decrea... OMIM:242900
Leptospirosis
Hepatomegaly, Jaundice, Hepatitis, Lymphadenopathy, Elevated serum transaminases during infection... ORPHA:509
Liver Failure, Infantile, Transient
Hepatomegaly, Microvesicular hepatic steatosis, Jaundice, Macrovesicular hepatic steatosis, Decre... OMIM:613070
Acute Adrenal Insufficiency
Nausea and vomiting, Normocytic anemia, Anorexia, Abdominal pain, Diarrhea, Weight loss, Constipa... ORPHA:95409
Hereditary Chronic Pancreatitis
Abdominal pain, Leukocytosis, Jaundice, Recurrent pancreatitis, Pancreatic calcification ORPHA:676
Neuropathy, Congenital Hypomyelinating, 3
Gastroesophageal reflux, Cachexia, High palate, Narrow palate OMIM:618186
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Ectodermal Dysplasia And Immunodeficiency 2
Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Defective production of NFKB1-depen... OMIM:612132
Perry Syndrome
Weight loss ORPHA:178509
Infantile Krabbe Disease
Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Recurrent infections, Vomiti... ORPHA:206436
Huntington Disease-Like 1
Weight loss ORPHA:157941
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Failure to thrive, Superficial dermal perivascular inflammatory infiltrate, Severe ... ORPHA:83617
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Recurrent pneumonia, Pneumonia, Esophagitis ORPHA:3348
Trichohepatoenteric Syndrome 1
Hepatomegaly, Increased mean platelet volume, Splenomegaly, Abnormality of the pancreas, Jaundice... OMIM:222470
Scleromyxedema
Abnormality of the gastrointestinal tract, Hypoperistalsis, Paraproteinemia, Gastroesophageal ref... ORPHA:167635
Addison Disease
Nausea and vomiting, Normocytic anemia, Anorexia, Abdominal pain, Celiac disease, Thiamine-respon... ORPHA:85138
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Abdominal distention, Sepsis, Microcolon OMIM:619362
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Osteomyelitis, Myeloproliferative disorder, Obesity ORPHA:70591
Fatal Familial Insomnia
Weight loss, Constipation, Dysphagia OMIM:600072
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Thyroiditis, Scl... ORPHA:64744
Urachal Cyst
Abscess, Abdominal pain, Leukocytosis, Severe infection, Peritonitis ORPHA:488
Mucolipidosis Type Ii
Recurrent respiratory infections, Splenomegaly, Hepatosplenomegaly, Weight loss, Protuberant abdo... ORPHA:576
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Anorexia, Malabsorption, Abdominal pain, Weight loss, Neutropenia ORPHA:79430
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Cachexia, Nasogastric tube feeding in infancy, Feeding difficulties, Constipation, Severe failure... ORPHA:371364
Turner Syndrome Due To Structural X Chromosome Anomalies
Failure to thrive in infancy, Celiac disease, High, narrow palate, Thyroiditis, Biliary cirrhosis... ORPHA:99413
Mosaic Monosomy X
Failure to thrive in infancy, Celiac disease, High, narrow palate, Thyroiditis, Biliary cirrhosis... ORPHA:99228
Monosomy X
Failure to thrive in infancy, Celiac disease, High, narrow palate, Thyroiditis, Biliary cirrhosis... ORPHA:99226
Turner Syndrome
Failure to thrive in infancy, Celiac disease, High, narrow palate, Thyroiditis, Biliary cirrhosis... ORPHA:881
19Q13.11 Microdeletion Syndrome
Recurrent respiratory infections, Failure to thrive, Cachexia, Feeding difficulties ORPHA:217346
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Igg4-Related Retroperitoneal Fibrosis
Nausea and vomiting, Normocytic anemia, Psoriasiform dermatitis, Deep dermal perivascular inflamm... ORPHA:49041
Oromandibular Dystonia
Weight loss, Dysphagia ORPHA:93958
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Esophageal var... ORPHA:2072
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Aganglionic megac... ORPHA:84
Mowat-Wilson Syndrome
Decreased body weight, Aganglionic megacolon, Bowel incontinence, Cleft hard palate, Pyloric sten... ORPHA:2152
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Nongranulomatous uveitis, Anterior uveitis, Skin rash, Anorexia, Abdominal pai... ORPHA:91500
Glossopharyngeal Neuralgia
Oral-pharyngeal dysphagia, Odynophagia, Malnutrition, Weight loss, Feeding difficulties ORPHA:221098
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia, Hepatic cysts, Decreased circulating antibody level OMIM:617425
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar... ORPHA:90291
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Bronchiectasis, Weight loss ORPHA:79127
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Megaloblastic anemia, Feeding difficulties, Gastroesophageal reflux, Vomiting, Esophagitis, Failu... ORPHA:79351
Cushing Syndrome Due To Ectopic Acth Secretion
Malignant gastrointestinal tract tumors, Pancreatic adenocarcinoma, Acne, Neoplasm of the stomach... ORPHA:99889
Renal Nutcracker Syndrome
Weight loss, Nausea, Anemia, Abdominal pain ORPHA:71273
Gaucher Disease
Hepatomegaly, Pancytopenia, Osteomyelitis, Abdominal pain, Feeding difficulties in infancy, Throm... ORPHA:355
Frontometaphyseal Dysplasia 2
Feeding difficulties in infancy, Pyloric stenosis, Cleft palate, Ulcerative colitis, Gastroesopha... OMIM:617137
Osteosarcoma
Weight loss ORPHA:668
Fg Syndrome Type 1
Abnormal large intestine morphology, Malrotation of colon, Pyloric stenosis, Gastroesophageal ref... ORPHA:93932
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Feeding difficult... ORPHA:221
Erdheim-Chester Disease
Nausea and vomiting, Osteomyelitis, Skin rash, Abdominal pain, Retroperitoneal fibrosis, Weight l... ORPHA:35687
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating antibody level,... ORPHA:79329
Chikungunya
Cervical lymphadenopathy, Infectious encephalitis, Lymphadenopathy ORPHA:324625
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Episcleritis, Recurrent respiratory infections, Aganglionic megacolon, Eczema, Keratitis, Cheilit... ORPHA:2273
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Obesity, Feeding difficulties, Constipation, Gastroesopha... ORPHA:813
Trichinellosis
Skin rash, Increased circulating IgE level, Conjunctivitis, Dysphagia, Meningitis, Nausea ORPHA:863
Rheumatoid Arthritis
Rheumatoid arthritis, Weight loss OMIM:180300
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hepatomegaly, Jaundice, Cholestasis, Hepatosplenomegaly, Decreased circulating antibody level, He... ORPHA:247598
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Myositis, Pericarditis, Skin rash, Abdominal pain, Weight loss, Arth... ORPHA:93672
Vici Syndrome
Decreased circulating IgG2 level, Decreased circulating IgG level ORPHA:1493
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia ORPHA:52368
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss OMIM:188580
Parathyroid Carcinoma
Nausea and vomiting, Pancreatic adenocarcinoma, Peptic ulcer, Episodic abdominal pain, Weight los... ORPHA:143
Rett Syndrome
Constipation, Gastroesophageal reflux, Cachexia OMIM:312750
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Weight loss OMIM:613239
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Blau Syndrome
Splenomegaly, Abnormality of the liver, Anemia, Lymphadenopathy ORPHA:90340
Viss Syndrome
Increased circulating IgG level, Increased circulating IgE level, Hypereosinophilia, Decreased ci... OMIM:619472
Meconium Ileus
Chronic diarrhea, Microcolon, Meconium ileus OMIM:614665
8P23.1 Microdeletion Syndrome
High palate, Obesity, Weight loss ORPHA:251071
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Aapoaiv Amyloidosis
Abnormality of the gastrointestinal tract, Paraproteinemia ORPHA:439232
Cowden Syndrome 1
Lymphopenia, Decreased circulating antibody level OMIM:158350
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Poor appetite, Nasogastric tube feeding in infancy, Feeding dif... ORPHA:2020
Short Syndrome
Poor appetite, Weight loss ORPHA:3163
Bannayan-Riley-Ruvalcaba Syndrome
Intestinal polyposis, Abnormal large intestine morphology, Cachexia, Narrow palate, Hamartomatous... ORPHA:109
Camurati-Engelmann Disease
Hepatomegaly, Anorexia, Cachexia, Feeding difficulties in infancy, Splenomegaly, Leukopenia, Slen... ORPHA:1328
Say-Barber-Miller Syndrome
Transient hypogammaglobulinemia of infancy, Abnormal T cell morphology, Decreased circulating ant... ORPHA:3132
Juvenile Amyotrophic Lateral Sclerosis
Gastrostomy tube feeding in infancy, Cachexia, Dysphagia ORPHA:300605
Multiple Endocrine Neoplasia Type 1
Neoplasm of the pancreas, Duodenal ulcer, Peptic ulcer, Anorexia, Abdominal pain, Hematemesis, Di... ORPHA:652
Perry Syndrome
Weight loss OMIM:168605
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Failure to thrive, Intestinal malrotation, Biliary atresia, Colon perforation... OMIM:600001
Sporadic Pheochromocytoma/Secreting Paraganglioma
Weight loss, Nausea, Episodic abdominal pain ORPHA:276621
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Weight loss, Intestinal pseudo-obstruction, Dysphagia, Gastroparesis OMIM:607459
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Cystinosis, Nephropathic
Hepatomegaly, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Splenomegaly, Weight loss,... OMIM:219800
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Abscess, Feeding difficulties, Abnormality of humoral immunity, Recurre... ORPHA:642
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level, Dysphagia OMIM:606002
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Diarrhea, Small for gestational age, Weight loss ORPHA:424
African Trypanosomiasis
Hepatomegaly, Pericarditis, Keratitis, Myocarditis, Diarrhea, Jaundice, Splenomegaly, Lymphadenop... ORPHA:3385
Adrenocortical Carcinoma
Weight loss, Increased body weight, Abdominal pain ORPHA:1501
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level OMIM:604928
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Pancreatic cysts, Leukocytosis, Hepatosplenomegaly, Anemia, Decreased circulating a... OMIM:274000
Simpson-Golabi-Behmel Syndrome
Hepatomegaly, Splenomegaly, Increased circulating IgE level, Pancreatic islet-cell hyperplasia, P... ORPHA:373
Hereditary Late-Onset Parkinson Disease
Chronic constipation, Weight loss, Dysphagia ORPHA:411602
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections, Pneumonia ORPHA:99104
X-Linked Intellectual Disability, Cabezas Type
High palate, Obesity, Cachexia ORPHA:85293
Cysticercosis
Iridocyclitis, Infectious encephalitis, Increased circulating antibody level ORPHA:1560
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal lymphocyte morphology, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Decreased ... ORPHA:293978
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Peptic ulcer, Diarrhea, Insulinoma, Zollinger-Ellison syndrome, Es... OMIM:131100
Cartilage-Hair Hypoplasia
Hepatomegaly, Abnormality of the pancreas, Decreased circulating antibody level, Neutropenia, Anemia ORPHA:175
Hereditary Pheochromocytoma-Paraganglioma
Weight loss, Nausea, Episodic abdominal pain ORPHA:29072
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Pancreatic hypoplasia, Reduced pancreatic beta cells, Weight loss ORPHA:99885
Occipital Horn Syndrome
Recurrent urinary tract infections, Gastroparesis, Hiatus hernia, High, narrow palate, Jaundice, ... ORPHA:198
Trichothiodystrophy
Increased mean corpuscular hemoglobin concentration, Panhypogammaglobulinemia, Anemia, Neutropenia ORPHA:33364
Atrial Septal Defect, Ostium Secundum Type
Recurrent bacterial infections, Pneumonia ORPHA:99103
Trisomy 18
Cachexia, Esophageal atresia, Narrow palate, Cleft palate, Anal atresia ORPHA:3380
Familial Gestational Hyperthyroidism
Diarrhea, Weight loss ORPHA:99819
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Anemia, Decreased circulating antibody level ORPHA:79396
Multiple Endocrine Neoplasia Type 4
Peptic ulcer, Diarrhea, Insulinoma, Thymoma, Episodic abdominal pain, Extrahepatic cholestasis, Z... ORPHA:276152
Choreoacanthocytosis
Hepatomegaly, Protruding tongue, Acanthocytosis, Splenomegaly, Abnormal erythrocyte enzyme level,... ORPHA:2388
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Dysgammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Thromboc... OMIM:251260
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level OMIM:601675
Distal Deletion 19P
Decreased circulating antibody level ORPHA:96129
Stickler Syndrome
Recurrent respiratory infections, Slender build, Cachexia, Feeding difficulties in infancy, Osteo... ORPHA:828
Cockayne Syndrome
Hepatomegaly, Cachexia, Feeding difficulties in infancy, Splenomegaly, Keratoconjunctivitis sicca... ORPHA:191
Tropical Endomyocardial Fibrosis
Hepatomegaly, Increased circulating interleukin 6 concentration, Eosinophilia, Cachexia, Splenome... ORPHA:75565
Oculopharyngodistal Myopathy 1
Weight loss, High palate, Dysphagia OMIM:164310
Xfe Progeroid Syndrome
Failure to thrive, Cachexia OMIM:610965
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Thyrotoxic Periodic Paralysis
Constipation, Obesity, Weight loss ORPHA:79102
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Bronchiectasis, Weight loss ORPHA:60025
Schwartz-Jampel Syndrome
Cachexia, Feeding difficulties in infancy, Cleft palate, High palate, Decreased body weight ORPHA:800
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Skin rash, Cachexia ORPHA:220295
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia, Short hard palate, Anorexia ORPHA:1969
Diarrhea 10, Protein-Losing Enteropathy Type
Decreased circulating antibody level OMIM:618183
Proteus Syndrome
Thymus hyperplasia, Cachexia, Neoplasm of the thymus, Splenomegaly, Recurrent infections, Lymphan... ORPHA:744
Tsh-Secreting Pituitary Adenoma
Nausea and vomiting, Vomiting, Weight loss ORPHA:91347
Seckel Syndrome
Cachexia ORPHA:808
Marfan Syndrome
Arthralgia/arthritis, Cachexia, High, narrow palate, Cleft palate, Slender build ORPHA:558
Goodpasture Syndrome
Glomerulonephritis, Anemia, Weight loss OMIM:233450
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Acne, Weight loss, Feeding difficulties, Vomiting, Failure to thrive ORPHA:90794
Hutchinson-Gilford Progeria Syndrome
Osteoarthritis, Weight loss, High palate, Severe failure to thrive, Ankyloglossia ORPHA:740
Restrictive Dermopathy
Submucous cleft hard palate, Microcolon ORPHA:1662
Sponastrime Dysplasia
Neutropenia, Decreased circulating antibody level ORPHA:93357
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Decreased circulating IgG level, Secretory IgA deficiency ORPHA:500150
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Asplenia, Decreased circulating antibody level ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Asplenia, Decreased circulating antibody level ORPHA:261552
Norrie Disease
Failure to thrive, Cachexia ORPHA:649

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 Ltb

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 Ltb.

There are 7 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Leukotriene B4 receptor-2 contributes to KRAS-driven lung tumor formation by promoting interleukin-6-mediated inflammation. Experimental & molecular medicine (October 2021) Ltb4r2tm1(KOMP)Vlcg PMC8569214
Latent-transforming growth factor beta-binding protein-2 (LTBP-2) is required for longevity but not for development of zonular fibers. Matrix biology : journal of the International Society for Matrix Biology (October 2020) Ltbp2tm1e(KOMP)Wtsi 33039488
Expression of leukotriene B4 receptor 1 defines functionally distinct DCs that control allergic skin inflammation. Cellular & molecular immunology (October 2020) Ltb4r1tm1a(EUCOMM)Hmgu PMC8167169
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Ltbp1tm1a(EUCOMM)Wtsi Ltbp1tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Ltbp1tm1a(EUCOMM)Wtsi PMC6459510
Leukotriene B4 Receptor 2 Is Critical for the Synthesis of Vascular Endothelial Growth Factor in Allergen-Stimulated Mast Cells. Journal of immunology (Baltimore, Md. : 1950) (August 2016) Ltb4r2tm1(KOMP)Vlcg 27489284
Abrogation of both short and long forms of latent transforming growth factor-β binding protein-1 causes defective cardiovascular development and is perinatally lethal. Matrix biology : journal of the International Society for Matrix Biology (March 2015) Ltbp1tm1c(EUCOMM)Wtsi Ltbp1tm1a(EUCOMM)Wtsi PMC4547347

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MGI Allele Allele Type Produced
Ltbtm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Ltbtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Ltbtm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Ltbtm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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