Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
ligase IV, DNA, ATP-dependent
Synonyms:
5830471N16Rik,  tiny,  DNA ligase IV

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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 Lig4 mutations

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

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

The table below shows human diseases predicted to be associated to Lig4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ... OMIM:615897
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, B lymphocytopenia, T lymphocytopenia OMIM:233650
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Abnormal T cell morphology, Lymphopenia, Decreased circulating I... OMIM:247630
Caspase 8 Deficiency
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95... OMIM:607271
Immunodeficiency 40
Lymphopenia OMIM:616433
Immunodeficiency 105
Decreased circulating IgA level, B-cell lymphoma, Lymphopenia, Decreased circulating IgG level, S... OMIM:619924
Severe Combined Immunodeficiency, X-Linked
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly... OMIM:300400
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased pr... OMIM:619824
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Immunodeficiency, Common Variable, 1
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... OMIM:607594
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Cervical l... OMIM:618987
Immunodeficiency 102
Hepatomegaly, Partial absence of specific antibody response to unconjugated pneumococcus vaccine,... OMIM:301082
Immunodeficiency 48
Failure to thrive, Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Diarrhea, Panhypogammaglobu... OMIM:269840
Immunodeficiency 18
Defective T cell proliferation, Lymphopenia, Decreased proportion of CD3-positive T cells OMIM:615615
Immunoglobulin A Deficiency 2
Decreased circulating IgA level, Abnormal lymphocyte morphology, Autoimmunity, Recurrent infectio... OMIM:609529
Immunodeficiency 70
Colitis, Decreased circulating total IgA, Decreased circulating total IgM, B lymphocytopenia, Rec... OMIM:618969
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency 36
Decreased circulating IgA level, B-cell lymphoma, Lymphopenia, Decreased circulating IgG level, E... OMIM:616005
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:612692
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating IgA level, Decreased circulating total IgM, Absent circulating B cells, Rec... OMIM:613500
Immunodeficiency 64
Increased proportion autoreactive unresponsive CD21-/low B cells, Cervical lymphadenopathy, Anti-... OMIM:618534
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating IgA level, Splenomegaly, Decreased specific antibody response to polysaccha... OMIM:616452
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Eczema, Diarrhea, Decreased proportion of CD4+CD25+ regulatory T cells, Monocyt... OMIM:619802
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:312863
Immunodeficiency, Common Variable, 2
Decreased circulating IgA level, Neoplasm, Decreased circulating IgG level, Hepatomegaly, Splenom... OMIM:240500
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgA level, Recurrent otitis media, Decreased circulating IgG level, Decreas... OMIM:613502
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Recurrent ski... OMIM:618944
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Feeding difficulties, Small for gestational age, Hypoplasia of the thymus, Eczema, Decreased prop... OMIM:617241
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Neutrophilia, Leukocyt... OMIM:619281
Transcobalamin Deficiency
Decreased circulating IgA level, Neutropenia, Lymphopenia, Decreased circulating IgG level, Decre... ORPHA:859
Immunodeficiency 44
Decreased circulating IgA level, Lymphopenia, Abnormal circulating IgG level, Decreased circulati... OMIM:616636
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Immunodeficiency 60 And Autoimmunity
Crohn's disease, Decreased circulating IgA level, Colitis, Decreased circulating IgG level, Bronc... OMIM:618394
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Lymphadenitis, Abnormal B cell count, Abnormal T cell count, Decreased circulating ... ORPHA:331206
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgA level, Oligoarthritis, Lymphopenia, Decreased circulating IgG level, Tu... OMIM:619510
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:619707
Nijmegen Breakage Syndrome
Recurrent infection of the gastrointestinal tract, Cleft palate, Otitis media, Diarrhea, B lympho... OMIM:251260
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Lymphoproliferative disorder, Diarrhea, Pneumonia, Jaundice, Decreased proportion o... ORPHA:276
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... ORPHA:169160
Immunodeficiency, Common Variable, 3
Decreased circulating IgA level, Reduced isohemagglutinin level, Decreased circulating total IgM,... OMIM:613493
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Crohn's disease, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, H... OMIM:616100
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... OMIM:606843
Immunodeficiency, Common Variable, 8, With Autoimmunity
Lymphoproliferative disorder, B lymphocytopenia, Decreased specific antibody response to vaccinat... OMIM:614700
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia, Defective T cell proliferation, R... OMIM:614493
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lack of T cell function, Failure to thrive, Sinusitis, Inflammatory abnormality of the skin, Lymp... ORPHA:277
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Anemia, ... ORPHA:169079
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Hepatomegaly, Gastritis, Non-Hodgkin lymphoma, Rheum... ORPHA:3261
Lymphoproliferative Syndrome, X-Linked, 2
Colitis, Hepatomegaly, Folliculitis, Hemophagocytosis, Splenomegaly, Recurrent skin infections, A... OMIM:300635
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... ORPHA:169154
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent gastroenteritis, Failure to thrive, Decreased circulating IgA level, Decreased circulat... ORPHA:275
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia OMIM:200900
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... OMIM:614699
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Hepatosplenomegaly, Decreased c... OMIM:618261
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Ataxia-Telangiectasia
Failure to thrive, Neoplasm, Lymphopenia, Short stature, Elevated hepatic transaminase, Decreased... ORPHA:100
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Hodgkin lymphoma, B-cell lymphoma, Splenom... OMIM:300853
Immunodeficiency, Common Variable, 11
Crohn's disease, Failure to thrive, Decreased circulating IgG level, Mucoid diarrhea, Inflammatio... OMIM:615767
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Eczema, B lymphocytopenia, Erythroderma, Decreased proportion of CD4+CD25+ regulatory T cells, Fa... OMIM:606367
Immunodeficiency 52
Failure to thrive, Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemo... OMIM:617514
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Short stature, Neutropenia OMIM:610798
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Impaired memory B cell generation, Diarrhea, Absence of lymph node germinal center,... OMIM:308230
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Rheumatoid factor positive, Smooth muscle antibody positivity, Splenomegaly, Follic... OMIM:601859
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Selective Igm Deficiency
Keratitis, Multiple myeloma, Recurrent infection of the gastrointestinal tract, Stomach cancer, O... ORPHA:331235
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Absent specific antibody response, Severe B lymphocytopenia, Diarrhea, B lymphocyto... OMIM:102700
X-Linked Lymphoproliferative Disease
Hemophagocytosis, Hepatic failure, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, ... ORPHA:2442
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Immunodeficiency 92
Decreased circulating IgA level, Abnormal B cell proliferation, Decreased circulating IgG level, ... OMIM:619652
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Systemic lupus erythematosus, Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic a... ORPHA:444463
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:611926
Immunodeficiency 95
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level OMIM:619773
Immunoerythromyeloid Hypoplasia
Lymphoproliferative disorder, Decreased circulating IgG level, Absent leukocyte alkaline phosphat... OMIM:242880
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilic infiltration of the esophagus, Eosinophilia, Decreased circulating total IgM, Eczema... OMIM:243700
Li-Fraumeni Syndrome
Neoplasm of the rectum, Ovarian neoplasm, Stomach cancer, Non-Hodgkin lymphoma, Choroid plexus ca... ORPHA:524
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Acute otitis ... ORPHA:35078
Immunodeficiency 14A, Autosomal Dominant
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... OMIM:615513
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... OMIM:618204
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis OMIM:247800
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
High palate, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Recur... OMIM:619752
Immunodeficiency 54
Failure to thrive, Intrauterine growth retardation, Adrenocorticotropic hormone excess, Hepatomeg... OMIM:609981
Proteasome-Associated Autoinflammatory Syndrome 2
Failure to thrive, Increased circulating IgA level, Skin rash, Abnormal circulating IgM level, An... OMIM:618048
Immunodeficiency 8
Lymphopenia OMIM:615401
Immunodeficiency, Common Variable, 14
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... OMIM:617765
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent infection of the gastrointestinal tract, Lymphoproliferative disorder, Lymphadenitis, P... ORPHA:911
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Failure to thrive, Malabsorption, Decreased circulating IgA level, Sinusitis, Macroglossia, Short... OMIM:242860
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Rheumatoid factor positive, Gastrointestinal hemorrhage, Lymphadenopathy, Smooth mu... OMIM:603909
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Decreased cir... OMIM:605258
Bloom Syndrome
Recurrent gastroenteritis, Cheilitis, Abnormal proportion of CD8-positive T cells, Stomach cancer... ORPHA:125
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Uveitis, Chronic hep... ORPHA:171
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Crohn's disease, Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytope... OMIM:619705
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent infection of the gastrointestinal tract, Chronic hepatitis due to cryptosporidium infec... ORPHA:572
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, T-cell lymphoma, Intrauterine growth retardation, Bloody diarrhea, Colonic atresia,... OMIM:243150
X-Linked Agammaglobulinemia
Abnormality of the tonsils, Weight loss, Malabsorption, Osteomyelitis, Arthritis, Hepatitis, Anem... ORPHA:47
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism OMIM:183350
Primary Intestinal Lymphangiectasia
Decreased circulating IgA level, Peritoneal effusion, Lymphopenia, Decreased circulating IgG leve... ORPHA:90362
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatomegaly, Absent isohemagglutinin level, Increased proportion autoreactive unresponsive CD21-... OMIM:615559
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Decreased circulating antibody level, B lymphocytopenia, Pancytopenia OMIM:616873
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia, Antiphospholipid antibody positivity OMIM:182410
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Severe short stature, Decreased circulating total IgM, Neutropen... ORPHA:2643
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgA level, Decreased circulating IgG level, Epididymitis, Increased circula... OMIM:608106
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Polyclonal elevation of IgM... OMIM:153600
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased specific anti-polysaccharide antibody level, Decreased specific antibody response to pr... ORPHA:70593
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Neutropenia OMIM:615214
Ataxia-Telangiectasia
Non-Hodgkin lymphoma, Leukemia, Decreased circulating IgA level, T lymphocytopenia, Female hypogo... OMIM:208900
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Enterocolitis, Decreased circulating total IgM, Interstitial pne... OMIM:614878
Immunodeficiency 72 With Autoinflammation
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin... OMIM:618982
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenom... OMIM:619220
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Severe short stature, Decreased circulating total IgM, Neutropen... OMIM:251190
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, B lymphocytopenia, Epididymitis, Decreased circulating IgE, Septic arthrit... OMIM:300755
Mismatch Repair Cancer Syndrome 1
Adenomatous colonic polyposis, Plexiform neurofibroma, Medulloblastoma, Neuroblastoma, Pleomorphi... OMIM:276300
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen... OMIM:619846
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Colitis, Decreased specific pneumococcal antibody level, Impaired lymphocyte transformation with ... OMIM:617006
Agammaglobulinemia 3, Autosomal Recessive
Failure to thrive, Neutropenia, Diarrhea, Recurrent otitis media, Agammaglobulinemia OMIM:613501
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Short stature, Small for gestational age, Macronodular cirrhosis... OMIM:215250
Immunodeficiency 57 With Autoinflammation
B lymphocytopenia, T lymphocytopenia, Decreased circulating antibody level, Perianal abscess, Par... OMIM:618108
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Failure to thrive, Otitis media, Purulent rhinitis, Diarrhea, B lymphocytopenia, Panhypogammaglob... OMIM:601457
Immunodeficiency 96
Increased mean corpuscular volume, Decreased circulating IgA level, Decreased circulating IgG lev... OMIM:619774
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Decreased circulating IgA level, Hepatomegaly, Gastroesophageal reflux, Splenomegaly, Short statu... OMIM:613385
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center OMIM:235550
Autoinflammatory Disease, Systemic, X-Linked
Osteomyelitis, Decreased circulating IgG level, Panuveitis, Optic neuritis, Decreased circulating... OMIM:301081
Fanconi Anemia, Complementation Group D1
T-cell acute lymphoblastic leukemias, Anal atresia, Failure to thrive, Short stature, Bone marrow... OMIM:605724
Chromosomal Instability With Tissue-Specific Radiosensitivity
Abnormality of chromosome stability OMIM:215510
Immunodeficiency 27A
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Anorexia, Hepatospleno... OMIM:209950
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Hepatomegaly, Lymphocytic interstitial pneumonia, Splenomegaly, Diarrhea, Incr... OMIM:618495
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Immunodeficiency 17
Recurrent gastroenteritis, Failure to thrive, Recurrent otitis media, Anoperineal fistula, Chroni... OMIM:615607
Immunodeficiency 25
Increased circulating IgA level, Smooth muscle antibody positivity, Eosinophilia, Increased circu... OMIM:610163
Griscelli Syndrome
Hepatomegaly, Splenomegaly, Short stature, Leukopenia, Pyloric stenosis, Abnormality of neutrophi... ORPHA:381
Macrophage Activation Syndrome
Hepatomegaly, Hemophagocytosis, Elevated circulating aspartate aminotransferase concentration, Th... ORPHA:158061
Autoimmune Hepatitis
Diffuse hepatic steatosis, Anti-liver cytosolic antigen type 1 antibody positivity, Gastrointesti... ORPHA:2137
Autosomal Agammaglobulinemia
High palate, Failure to thrive, Malabsorption, Osteomyelitis, Sinusitis, Skin rash, Recurrent ski... ORPHA:33110
Ras-Associated Autoimmune Leukoproliferative Disorder
Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Lymphoproliferat... OMIM:614470
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Ileus, Failure to thrive, Coombs-positive hemolytic anemia, Eosinophilia, Eczema, Autoimmune thro... OMIM:304790
Lymphoproliferative Syndrome, X-Linked, 1
Burkitt lymphoma, Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, ... OMIM:308240
Bloom Syndrome
Intrauterine growth retardation, Decreased circulating IgA level, Decreased circulating IgG level... OMIM:210900
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Intrauterine growth retardation, Chromosomal breakage induced by cro... OMIM:609054
Alpha-Heavy Chain Disease
Malabsorption, Hepatomegaly, Abdominal pain, Splenomegaly, Lymphoma, Abnormality of the small int... ORPHA:100025
Immunoglobulin A Deficiency 1
Malabsorption, Decreased circulating IgA level, Autoimmunity, Recurrent infection of the gastroin... OMIM:137100
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Decreased circulating IgA level, Feeding difficulties, Short stature, Recurren... OMIM:617744
Reticular Dysgenesis
Failure to thrive, Malabsorption, Skin rash, Leukopenia, Diarrhea, Chronic otitis media, Abnormal... ORPHA:33355
Immunodeficiency 82 With Systemic Inflammation
Gastritis, Diarrhea, Vomiting, B lymphocytopenia, Pneumonia, Weight loss, Decreased proportion of... OMIM:619381
Immunodeficiency 20
Reduced natural killer cell activity, Reduced natural killer cell count OMIM:615707
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Atopic dermatitis, Anal canal squamous carcinoma, Chronic ot... ORPHA:217390
Lymphoproliferative Syndrome 1
Hodgkin lymphoma, B-cell lymphoma, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, L... OMIM:613011
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Reduced circulating interleukin 27 concentration, Increased circulating IgA leve... OMIM:619632
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent gastroenteritis, Gastritis, Eczema, Vomiting, Anti-thyroid peroxidase antibody positivi... ORPHA:37042
Immunodeficiency 47
Exocrine pancreatic insufficiency, Hepatomegaly, Elevated circulating aspartate aminotransferase ... OMIM:300972
Turcot Syndrome With Polyposis
Melena, Constipation, Hepatoblastoma, Diarrhea, Soft tissue neoplasm, Vomiting, Hematochezia, Bas... ORPHA:99818
Fanconi Anemia, Complementation Group N
Medulloblastoma, Neuroblastoma, Nephroblastoma, Aplastic anemia, Chromosomal breakage induced by ... OMIM:610832
Mu-Heavy Chain Disease
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Weight l... ORPHA:100024
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Colitis, Hemophagocytosis, Splenomegaly, Abnormal natural killer cell physiology, Hepatosplenomeg... OMIM:613101
Pgm3-Cdg
High palate, Abnormal proportion of CD8-positive T cells, Eczema, Rheumatoid factor positive, Chr... ORPHA:443811
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neu... OMIM:615285
Reticular Dysgenesis
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy... OMIM:267500
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... ORPHA:2585
Icf Syndrome
Malabsorption, Lymphopenia, Macroglossia, Short stature, Abnormality of neutrophils, Decreased ci... ORPHA:2268
Thymic Aplasia
Decreased proportion of naive T cells, Decreased lymphocyte proliferation in response to mitogen,... ORPHA:83471
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Dyskeratosis Congenita, Digenic
Failure to thrive, Decreased circulating IgA level, Intrauterine growth retardation, Decreased ci... OMIM:620040
Immunodeficiency 86
Increased circulating IgM level, Decreased circulating IgG level, Impaired oxidative burst OMIM:619549
Fanconi Anemia, Complementation Group G
Myelodysplasia, Neutropenia, Growth delay, Anemia, Thrombocytopenia, Leukemia, Abnormality of chr... OMIM:614082
Bare Lymphocyte Syndrome, Type Ii
Failure to thrive, Malabsorption, Colitis, Viral hepatitis, Biliary tract abnormality, Panhypogam... OMIM:209920
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa... OMIM:301045
Immunodeficiency 19
Lymphopenia OMIM:615617
Celiac Disease, Susceptibility To, 1
Steatorrhea, Eczema, Diarrhea, Vomiting, Macrocytic anemia, Weight loss, Decreased circulating Ig... OMIM:212750
Schnitzler Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Skin rash, Lymphoma, Arthritis, Increased circulating I... ORPHA:37748
Secondary Intestinal Lymphangiectasia
Vomiting, Decreased circulating IgA level, Malabsorption, Intussusception, Cirrhosis, Decreased c... ORPHA:90363
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Rheumatoid arthritis, Epididymitis, Chronic sinusitis, Pneumonia, Decreased ci... ORPHA:183675
Ebola Hemorrhagic Fever
Increased circulating antibody level, Melena, Lymphopenia, Abdominal pain, Maculopapular exanthem... ORPHA:319218
Wiskott-Aldrich Syndrome
Melena, Lymphoproliferative disorder, Eczema, Diarrhea, Decreased mean platelet volume, Abnormal ... OMIM:301000
Hereditary Mixed Polyposis Syndrome
Neoplasm of the rectum, Adenomatous colonic polyposis, Thyroid carcinoma, Intussusception, Prosta... ORPHA:157794
Immunodeficiency 76
B-cell lymphoma, Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Recurr... OMIM:619164
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Eczema, Vomiting, Macrocytic ... OMIM:617780
Q Fever
Hepatomegaly, Maculopapular exanthema, Rheumatoid factor positive, Myocarditis, Antimitochondrial... ORPHA:781
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Transcobalamin Ii Deficiency
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased ci... OMIM:275350
Blackfan-Diamond Anemia
High palate, Reticulocytopenia, Increased mean corpuscular volume, Erythroid hypoplasia, Macrocyt... ORPHA:124
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... OMIM:202700
Autoimmune Polyendocrinopathy Type 4
Thymoma, Iridocyclitis, Hypergonadotropic hypogonadism, Rheumatoid arthritis, Macrocytic anemia, ... ORPHA:227990
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent sinusitis, Recurrent ... OMIM:613494
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Decreased circulating IgA level, Exocrine pancreatic insufficiency, Lymphopenia, Cryptorchidism, ... OMIM:620005
Immunodeficiency, Common Variable, 10
Decreased circulating IgA level, Decreased circulating IgG level, Decreased response to growth ho... OMIM:615577
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Decreased lymphocyte proliferation in... ORPHA:221139
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Feeding difficulties, Large for gestational age, Rhizomelia, Cry... OMIM:616638
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Hodgkin lymphoma, Hepatomegaly, Hemoph... OMIM:615122
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Antiphospholipid antibody positivity, Lymphopenia, Increased circulating IgA l... OMIM:615934
Griscelli Syndrome, Type 2
Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocytosis OMIM:607624
Autoimmune Polyendocrinopathy Type 3
Thymoma, Iridocyclitis, Hypergonadotropic hypogonadism, Rheumatoid arthritis, Autoimmune hypopara... ORPHA:227982
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Abnormally low T cell receptor excision circle level, T lymphocytopenia OMIM:618806
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Crohn's disease, Lymphopenia, Splenomegaly, Recurrent tonsillitis, Short stature, Hepatosplenomeg... OMIM:618935
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Failure to thrive, Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low... OMIM:602450
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level, Neutropenia, Bronchiectasi... OMIM:193670
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased specific anti-polysaccharide antibody level, Sinusitis, Lymphopenia, Increased circulat... OMIM:600903
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Increased circulating IgA level, Hepatomegaly, Splenomegaly, Increased circula... OMIM:617388
Immunodeficiency 98 With Autoinflammation, X-Linked
Recurrent otitis media, Decreased circulating IgG level, Hepatomegaly, Hemophagocytosis, Splenome... OMIM:301078
Macrocephaly/Autism Syndrome
Lymphopenia, Hepatomegaly, Splenomegaly, Decreased circulating antibody level, Obesity OMIM:605309
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Decreased circulating IgA level, Chromosome breakage, Abnormality of the thymus, Leukemia, Abnorm... OMIM:208910
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Intrauterine growth retardation, Abnormality of chromosome stability, Pancytopenia OMIM:600546
Immunodeficiency 104
Gastroesophageal reflux, Hepatomegaly, Splenomegaly, Otitis media, Eczema, Diarrhea, T lymphocyto... OMIM:608971
Bone Marrow Failure Syndrome 4
Short stature, Leukopenia, Eczema, Rhizomelia, Decreased circulating antibody level, Bone marrow ... OMIM:618116
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Okur-Chung Neurodevelopmental Syndrome
High palate, Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level,... OMIM:617062
Immunodeficiency 61
Malabsorption, Frequent Giardia lamblia infestation, Arthritis, Recurrent sinusitis, Colon cancer... OMIM:300310
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media, Neutropenia, ... OMIM:618986
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Failure to thrive, Recurrent otitis m... OMIM:600802
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Neutropenia in presence of anti-neutropil antibodies, Hodgkin ... OMIM:615952
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated circulating alkaline phosphatase concentration, Cholestasis, Antimitochondrial antibody ... ORPHA:562639
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Immunodeficiency 11
Decreased circulating antibody level, Pneumonia OMIM:615206
Neuroendocrine Neoplasm Of Appendix
Bowel urgency, Ovarian neoplasm, Hepatomegaly, Constipation, Intestinal carcinoid, Poor appetite,... ORPHA:100079
Chilblain Lupus
Increased circulating antibody level, Antiphospholipid antibody positivity, Systemic lupus erythe... ORPHA:90280
Immunodeficiency 46
Failure to thrive, Chronic oral candidiasis, Decreased circulating antibody level, Intermittent t... OMIM:616740
Xq28 (MECP2) duplication
Failure to thrive, Decreased circulating IgA level, Gastroesophageal reflux, Constipation, Feedin... DECIPHER:45
Immunodeficiency 81
Impaired collagen-induced platelet aggregation, Abnormally low T cell receptor excision circle le... OMIM:619374
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Bronchiectasis, Decreased circulating total IgM, Short stature OMIM:615139
Immunodeficiency 68
Abscess, Abnormal natural killer cell count, B lymphocytopenia, T lymphocytopenia OMIM:612260
Roifman Syndrome
Short stature, Hypogonadotropic hypogonadism, Eosinophilia, Hepatosplenomegaly, Eczema, Decreased... ORPHA:353298
Thymoma
Rheumatoid arthritis, Aplastic anemia, Non-Hodgkin lymphoma, Abnormal lymphocyte proliferation, W... ORPHA:99867
Familial Adenomatous Polyposis
Cholangiocarcinoma, Pancreatitis, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma,... ORPHA:733
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Immune Deficiency, Familial Variable
Decreased circulating IgA level, Decreased circulating IgG level OMIM:146830
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM OMIM:300861
Fanconi Anemia, Complementation Group V
Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia, Chromosomal breakage induced ... OMIM:617243
Punctate Palmoplantar Keratoderma Type 1
Esophageal neoplasm, Hodgkin lymphoma, Breast carcinoma, Stomach cancer, Prostate cancer, Melanom... ORPHA:79501
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Simple Cryoglobulinemia
B-cell lymphoma, Multiple myeloma, Viral hepatitis, Nephritis, Abdominal pain, Complement deficie... ORPHA:91139
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent gastroenteritis, Hepatomegaly, Diarrhea, Absence of lymph node germinal center, Panhypo... ORPHA:79124
Cirrhosis, Familial
Cirrhosis, Increased circulating antibody level, Hepatitis, Chronic active hepatitis OMIM:118900
Common Variable Immunodeficiency
Anal atresia, Lymphopenia, Splenomegaly, Gastrointestinal stroma tumor, Otitis media, Autoimmune ... ORPHA:1572
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Decreased lymphocyte proliferation in response to anti-CD3, Hypoplasia of the thymus, Diarrhea, B... OMIM:619313
N Syndrome
Cryptorchidism, Leukemia, Abnormality of chromosome stability, Neoplasm OMIM:310465
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Neutrophilia, Leukocytosis, Skin rash, Abdominal pain, Diarrhea,... OMIM:617099
Agammaglobulinemia 5, Autosomal Dominant
High palate, Agammaglobulinemia OMIM:613506
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Hemophagocytosis, Maculopapular exanthema, Thrombocytopenia, Erythroderma, Jaundice... ORPHA:540
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent otitis media, Prostatitis, Sinusitis, Decreased response to growth hormone stimulation ... OMIM:307200
Lymphangiectasia, Intestinal
Malabsorption, Decreased circulating IgG level, Lymphopenia, Intestinal lymphangiectasia OMIM:152800
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Malabsorption, Decreased circulating antibody level, Lymphopenia ORPHA:1116
Bone Marrow Failure Syndrome 5
Testicular atrophy, Short stature, Decreased circulating antibody level, Pure red cell aplasia, H... OMIM:618165
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Skin rash, Abdominal pain, Myocarditis, A... ORPHA:829
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Eczema, Diarrhea, B lymphocytopenia, Inflammatory abnormality of the skin, Oropharyngeal squamous... ORPHA:391487
Lipodystrophy, Congenital Generalized, Type 4
Ileus, Decreased circulating IgA level, Failure to thrive, Hepatomegaly, Constipation, Feeding di... OMIM:613327
Aspergillosis
Keratitis, Sinusitis, Osteomyelitis, Eosinophilia, Abnormal esophagus morphology, Hematological n... ORPHA:1163
Gardner Syndrome
Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci... ORPHA:79665
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Maternal Uniparental Disomy Of Chromosome 1
Failure to thrive, Gastroesophageal reflux, Hepatomegaly, Feeding difficulties, Short stature, Pa... ORPHA:251009
Complement Component C1S Deficiency
Systemic lupus erythematosus, Hepatitis, Abnormality of complement system, Hashimoto thyroiditis OMIM:613783
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Dec... OMIM:612301
Boutonneuse Fever
Skin rash, Abdominal pain, Cervical lymphadenopathy, Maculopapular exanthema, Leukopenia, Diarrhe... ORPHA:83313
Mogs-Cdg
Hydrocele testis, High palate, Decreased circulating IgA level, Decreased circulating IgG level, ... ORPHA:79330
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia OMIM:619693
Dubowitz Syndrome
High palate, Decreased circulating IgA level, Decreased circulating IgG level, Neuroblastoma, Vel... OMIM:223370
Blue Rubber Bleb Nevus
Intestinal bleeding, Intussusception, Hemangioma, Volvulus, Iron deficiency anemia, Rectal prolap... OMIM:112200
Trichothiodystrophy 3, Photosensitive
Failure to thrive, Increased circulating IgA level, Lymphopenia, Feeding difficulties, Short stat... OMIM:616395
Autoinflammatory-Pancytopenia Syndrome
Failure to thrive, Growth delay, Cholestatic liver disease, Hemophagocytosis, Intestinal inflamma... OMIM:619858
Fanconi Anemia, Complementation Group S
Failure to thrive, Narrow palate, Ovarian neoplasm, Chromosome breakage, Breast carcinoma, Short ... OMIM:617883
Legionnaires Disease
Pancreatitis, Lymphopenia, Abdominal pain, Splenomegaly, Anorexia, Nausea and vomiting, Diarrhea,... ORPHA:549
Rosaï-Dorfman Disease
Anemia, Lymphadenopathy, Dysgammaglobulinemia ORPHA:158014
Immunoglobulin M, Level Of
Decreased circulating total IgM OMIM:308250
Purine Nucleoside Phosphorylase Deficiency
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Neutropenia in pres... OMIM:613179
Rasmussen Subacute Encephalitis
Decreased circulating total IgA, Antinuclear antibody positivity, Autoimmunity, Anti-dsDNA antibo... ORPHA:1929
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Fanconi Anemia, Complementation Group F
Failure to thrive, Duodenal atresia, Cryptorchidism, Decreased response to growth hormone stimula... OMIM:603467
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly... OMIM:212065
Dyskeratosis Congenita, Autosomal Recessive 5
Colitis, Leukopenia, Decreased circulating antibody level, Esophageal stenosis, Bone marrow hypoc... OMIM:615190
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod... ORPHA:247806
Leishmaniasis
Increased circulating antibody level, Hepatomegaly, Rhinitis, Splenomegaly, Anorexia, Leukopenia,... ORPHA:507
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased lymphocyte proliferation in response to mitogen, Capillary hemangioma, Lymphopenia, Dec... ORPHA:508533
Wilson Disease
Failure to thrive, Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic failure, Cirrhosis,... ORPHA:905
Halothane Hepatitis
Viral hepatitis, Eosinophilia, Hepatitis, Obesity, Jaundice OMIM:234350
Sézary Syndrome
Cutaneous T-cell lymphoma, Hepatomegaly, Splenomegaly, Lymphoma, Abnormal immunoglobulin level, E... ORPHA:3162
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
High palate, Short stature, Hepatosplenomegaly, Fibroma, Microcytic anemia, Decreased circulating... OMIM:619750
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Thyroiditis, Neutropenia in presence of anti-neutropil antibodies, Smooth muscle antibody positiv... ORPHA:228426
Lig4 Syndrome
Malabsorption, Hepatomegaly, Leukocytosis, Lymphoma, Pancytopenia, Growth delay, Cryptorchidism, ... ORPHA:99812
Adult Idiopathic Neutropenia
Lymphopenia, Monocytosis, Helicobacter pylori infection, Increased circulating IgM level, Recurre... ORPHA:2688
Autoinflammation With Infantile Enterocolitis
Failure to thrive, Enterocolitis, Skin rash, Splenomegaly, Short stature, Episodic vomiting, Redu... OMIM:616050
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Eczematoid dermatitis, Lymphopenia, Aplasia of the thymus, Abnormally low T ce... OMIM:242700
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Recurrent infection of the gastrointestinal tract, Autoimmune thrombocytopenia, Ab... OMIM:608184
Riddle Syndrome
Decreased circulating IgA level, Decreased circulating IgG level, Abdominal pain, Short stature, ... ORPHA:420741
Xeroderma Pigmentosum, Complementation Group G
Growth delay, Defective DNA repair after ultraviolet radiation damage OMIM:278780
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... ORPHA:231154
Fanconi Anemia, Complementation Group I
Decreased body weight, Decreased response to growth hormone stimulation test, Short stature, Bone... OMIM:609053
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level, Hemangioma, Intestinal polyp, Large for gestational age, Cryptor... ORPHA:457485
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent skin infections, Atrophic gastritis, Recurrent sinusitis, Decreased circulating antibod... OMIM:616576
Fanconi Anemia, Complementation Group Q
Chromosome breakage, Short stature, Biliary atresia, Anteriorly placed anus, Bone marrow hypocell... OMIM:615272
Hyper-Igd Syndrome
Increased circulating IgA level, Neutrophilia, Leukocytosis, Splenomegaly, Chronic oral candidias... OMIM:260920
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6
Lymphopenia, Abnormally low T cell receptor excision circle level, Myelodysplasia, Decreased circ... OMIM:619767
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
High palate, Growth delay, Decreased circulating antibody level, Pneumonia OMIM:614069
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Sodium-Dependent Multivitamin Transporter Deficiency
Gastrostomy tube feeding in infancy, Episodic vomiting, Decreased circulating IgG level OMIM:618973
Immunodeficiency 23
High palate, Failure to thrive, Hodgkin lymphoma, Lymphopenia, Eosinophilia, Abscess, Rheumatoid ... OMIM:615816
Fanconi Anemia, Complementation Group O
Neonatal death, Cryptorchidism, Chromosome breakage OMIM:613390
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level OMIM:314000
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Failure to thrive, Hepatomegaly, Elevated ... OMIM:614576
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Chronic gastritis, Failure to thrive, Colitis, Decreased circulating IgG level, Eczema, Diarrhea,... OMIM:608809
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level, Leukocytosis, Splenomegaly OMIM:618042
Acquired Partial Lipodystrophy
Decreased serum complement C3, Lymphocytosis ORPHA:79087
Fanconi Anemia, Complementation Group C
Neutropenia, Cryptorchidism, Small for gestational age, Short stature, Hypergonadotropic hypogona... OMIM:227645
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Lymphoproliferative disorder, Eczema, Esophageal varix, Pancytopenia, Bone marrow h... OMIM:615688
Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Papilloma, Large intestinal polyposis, Duodenal polyposis, Adenoca... ORPHA:220460
Tularemia
Increased circulating antibody level, Conjunctivitis, Leukocytosis, Abnormal nasopharyngeal adeno... ORPHA:3392
Familial Adenomatous Polyposis 1
Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade... OMIM:175100
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Diarrhea, Hematochezia, Pneumonia, Pancytopenia, Weight loss, Intrauterine growth r... OMIM:615846
Omenn Syndrome
Failure to thrive, Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B l... OMIM:603554
Immunoglobulin Kappa Light Chain Deficiency
Diarrhea, Abnormal immunoglobulin level OMIM:614102
Cutaneous Neuroendocrine Carcinoma
Multiple myeloma, Carcinoid tumor, Chronic noninfectious lymphadenopathy, Lymphoid leukemia, Basa... ORPHA:79140
Polymerase Proofreading-Related Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Endometrial carcinoma, A... ORPHA:447877
Immunodeficiency, Common Variable, 6
Hepatomegaly, Decreased specific pneumococcal antibody level, Autoimmune thrombocytopenia, Chroni... OMIM:613496
Primary Sjögren Syndrome
Chronic active hepatitis, Complement deficiency, Decreased serum complement C4, Lymphoproliferati... ORPHA:289390
Good Syndrome
Abnormal leukocyte morphology, Thymoma, Bronchiectasis, Sinusitis, Recurrent skin infections, Dia... ORPHA:169105
Immunodeficiency 59 And Hypoglycemia
High palate, Malabsorption, Hepatomegaly, Herpes simplex encephalitis, Short stature, Recurrent s... OMIM:233600
Cowden Syndrome 1
Hydrocele testis, High palate, Thyroiditis, Lymphopenia, Breast carcinoma, Fibroadenoma of the br... OMIM:158350
Graft Versus Host Disease
Recurrent gastroenteritis, Elevated circulating alkaline phosphatase concentration, Hemophagocyto... ORPHA:39812
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Increased circulating antibody level, Crohn's disease, Pustule, Myositis, Arthritis, Increased in... ORPHA:69126
Igg4-Related Aortitis
Increased circulating antibody level, Abdominal pain, Complement deficiency, Antinuclear antibody... ORPHA:449400
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Defective DNA repair after ultraviolet radiation damage OMIM:194400
Immunodeficiency, Common Variable, 5
Antinuclear antibody positivity, Chronic decreased circulating total IgG OMIM:613495
Agammaglobulinemia 1, Autosomal Recessive
Failure to thrive, Recurrent otitis media, B lymphocytopenia, Panhypogammaglobulinemia, Recurrent... OMIM:601495
Medulloblastoma
Adenomatous colonic polyposis, Medulloblastoma, Neuroblastoma, Spinal cord tumor, Neoplasm of the... ORPHA:616
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Pancreatitis, Ovarian neoplasm, Peripheral primitive neuroectodermal ne... ORPHA:370348
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hodgkin lymphoma, Systemic lupus erythematosus, Hepatomegaly, Coombs-positive hemolytic anemia, S... OMIM:619375
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Failure to thrive, Decreased response to growth hormone stimulation test, Psoriasiform dermatitis... ORPHA:293978
Iga Pemphigus
Increased circulating IgA level, Pustule, Eosinophilia, Monoclonal elevation of circulating IgA, ... ORPHA:555905
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Cholelithiasis, Failure to thrive, Hepatomegaly, Cleft palate, Severe B lymphocytopenia, Decrease... ORPHA:83617
Brucellosis
Hepatomegaly, Rheumatoid factor positive, Vomiting, Myocarditis, Hypersplenism, Epididymitis, Pne... ORPHA:1304
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... OMIM:150550
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Primary Biliary Cholangitis
Increased circulating IgA level, Elevated circulating alkaline phosphatase concentration, Abdomin... ORPHA:186
Fanconi Anemia, Complementation Group D2
Annular pancreas, Neutropenia, Cryptorchidism, Small for gestational age, Short stature, Tracheoe... OMIM:227646
Beta-Thalassemia
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypogonadotropic hypogonadism, H... ORPHA:848
Schimke Immuno-Osseous Dysplasia
Pancreatitis, Lymphoproliferative disorder, Impaired T cell function, Non-Hodgkin lymphoma, Abnor... ORPHA:1830
Popov-Chang syndrome
Failure to thrive, Gastroesophageal reflux, Lymphopenia, Feeding difficulties, Short stature, Dec... OMIM:618428
Insulin-Resistance Syndrome Type B
Multiple myeloma, Pneumonia, Polycystic ovaries, Increased body weight, Weight loss, Enlarged pol... ORPHA:2298
Hereditary Folate Malabsorption
Megaloblastic anemia, Failure to thrive, Cheilitis, Gastroesophageal reflux, Anorexia, Eosinophil... ORPHA:90045
Angiostrongyliasis
Increased circulating IgA level, Constipation, Abdominal pain, Projectile vomiting, Increased cir... ORPHA:74
Syndromic Diarrhea
Hepatomegaly, Hepatoblastoma, Gastritis, Panhypogammaglobulinemia, Intrauterine growth retardatio... ORPHA:84064
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Decreased circulating IgG level, Anorexia, Diarrhea, Vomiting, Neutropenia, Abnormal intestine mo... OMIM:600351
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Pustule, Skin rash, Acute hepatic failure, Eosinophilia, Interstitial pneumonitis,... ORPHA:139402
Immune Deficiency Disease
Decreased circulating total IgM, Fulminant hepatitis, Cholangitis OMIM:242850
Rift Valley Fever
Melena, Hematemesis, Skin rash, Anorexia, Increased circulating IgG level, Elevated hepatic trans... ORPHA:319251
Bohring-Opitz Syndrome
Cholelithiasis, Annular pancreas, Medulloblastoma, Cleft palate, Severe failure to thrive, Short ... ORPHA:97297
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Anal atresia, Lymphopenia, Eosinophilia, Hepatic cysts, Decreased circulating antibody level, Ery... OMIM:617425
Alg12-Cdg
Failure to thrive, Partial absence of specific antibody response to Haemophilus influenzae type b... ORPHA:79324
Bile Acid Synthesis Defect, Congenital, 3
Failure to thrive, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenom... OMIM:613812
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Large intestinal polyposis, Adenocarcinoma of the colon, Rectal po... ORPHA:247798
Prolidase Deficiency
High palate, Increased circulating antibody level, Failure to thrive, Systemic lupus erythematosu... OMIM:170100
Schimke Immunoosseous Dysplasia
Lymphopenia, Small for gestational age, Protuberant abdomen, Thrombocytopenia, Pancytopenia, Disp... OMIM:242900
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Failure to thrive, Sinusitis, Lymphopenia, Hepatomegaly, Pa... OMIM:617591
Congenital Bile Acid Synthesis Defect Type 2
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Postnatal growth retardation, Elevated cir... ORPHA:79303
Mirage Syndrome
Decreased body weight, Lymphopenia, Cryptorchidism, Gastroesophageal reflux, Short stature, Aspir... OMIM:617053
Immunodeficiency 56
Failure to thrive, Recurrent infection of the gastrointestinal tract, Chronic hepatitis due to cr... OMIM:615207
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Inflammatory Pseudotumor Of The Liver
Abnormal liver sonography, Neoplasm of the liver, Abdominal distention, Abdominal pain, Increased... ORPHA:90003
Cryoglobulinemic Vasculitis
Hepatomegaly, Circulating immune complexes, Viral hepatitis, Splenomegaly, Abdominal pain, Cryogl... ORPHA:91138
Lambert Syndrome
Intrauterine growth retardation, Intrahepatic biliary atresia, Cholestasis, Decreased circulating... ORPHA:1296
Microsporidiosis
Keratitis, Pancreatitis, Lymphadenitis, Vomiting, Myocarditis, Biliary tract abnormality, Glossit... ORPHA:2552
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Hematological neoplasm, Abnormal proportion of CD4-... ORPHA:217260
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Immunodeficiency 58
Eczema, Helicobacter pylori infection, Decreased specific antibody response to vaccination, Colit... OMIM:618131
Burkitt Lymphoma
Abdominal pain, Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pan... ORPHA:543
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Splenomegaly, Hypochromic microcytic anemia, Schistocytosis, B lymphocytopenia, Decreased circula... OMIM:616084
Monosomy 9Q22.3
Medulloblastoma, Feeding difficulties, Odontogenic keratocysts of the jaw, Nephroblastoma, Rhabdo... ORPHA:77301
Cartilage-Hair Hypoplasia
Failure to thrive, Malabsorption, Disproportionate short-limb short stature, Hepatomegaly, Agangl... ORPHA:175
Thymic Tumor
Neuroendocrine neoplasm, Neoplasm of the thymus, Mediastinal lymphadenopathy, Autoimmunity, Dysga... ORPHA:100100
Monosomy 18Q
High palate, Slender build, Decreased circulating IgA level, Failure to thrive, Short stature, Se... ORPHA:1600
Spondyloenchondrodysplasia
Systemic lupus erythematosus, Decreased response to growth hormone stimulation test, Enchondroma,... ORPHA:1855
Fanconi Anemia, Complementation Group A
Neutropenia, Cryptorchidism, Small for gestational age, Short stature, Hypergonadotropic hypogona... OMIM:227650
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Anisocytosis, Diarrhea, Jaundice, Failure to thrive in infancy... ORPHA:231226
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Failure to thrive, Adrenocorticotropic hormone deficiency, Pituitary adenoma,... ORPHA:199299
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Cystic Echinococcosis
Increased circulating antibody level, Abnormality of the testis size, Cholestatic liver disease, ... ORPHA:400
Fanconi Anemia, Complementation Group L
Anal atresia, Intrauterine growth retardation, Chromosome breakage, Cleft palate, Feeding difficu... OMIM:614083
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Basal Cell Nevus Syndrome
Hamartomatous stomach polyps, Medulloblastoma, Cleft palate, Odontogenic keratocysts of the jaw, ... OMIM:109400
Whim Syndrome
Papilloma, Sinusitis, Lymphopenia, Cutaneous melanoma, Otitis media, Lymphadenitis, Severe period... ORPHA:51636
Zika Virus Disease
Conjunctivitis, Skin rash, Maculopapular exanthema, Myelitis, Vomiting, Arthritis, Increased circ... ORPHA:448237
Pyoderma Gangrenosum
Increased circulating antibody level, Pustule, Rheumatoid arthritis, Myeloid leukemia, Inflammati... ORPHA:48104
Fanconi Anemia, Complementation Group E
Neutropenia, Cryptorchidism, Small for gestational age, Short stature, Hypergonadotropic hypogona... OMIM:600901
Avian Influenza
Lymphopenia, Abdominal pain, Leukopenia, Diarrhea, Myelitis, Vomiting, Increased circulating lact... ORPHA:454836
Netherton Syndrome
Failure to thrive, Decreased circulating IgG level, Intestinal atresia, Allergic rhinitis, Villou... OMIM:256500
Familial Multinodular Goiter
Sertoli cell neoplasm, Thyroid carcinoma, Ovarian neoplasm, Pleuropulmonary blastoma, Medulloepit... ORPHA:276399
Mccune-Albright Syndrome
Elevated circulating growth hormone concentration, Pancreatitis, Gastroesophageal reflux, Benign ... ORPHA:562
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Mgat2-Cdg
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Decreased circulati... ORPHA:79329
Kimura Disease
Eosinophilia, Increased circulating IgE level ORPHA:482
Insulin Autoimmune Syndrome
Increased circulating antibody level, Systemic lupus erythematosus, Autoimmune antibody positivit... ORPHA:411593
Congenital Enterovirus Infection
Leukocytosis, Hepatic failure, Skin rash, Leukopenia, Cholestasis, Abnormal macrophage morphology... ORPHA:292
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Malabsorption, Hepatomegaly, Abdominal pain, Diarrhea, Vomiting, Iron deficiency anemia, Intestin... OMIM:226300
Fragile X Syndrome
Folate-dependent fragile site at Xq28 ORPHA:908
Epilepsy-Telangiectasia Syndrome
Decreased circulating IgA level, Decreased circulating antibody level, Short stature ORPHA:1951
Immunodeficiency 31C
Lymphopenia, Short stature, Delayed puberty, Autoimmune hemolytic anemia, Growth delay OMIM:614162
Glioma Susceptibility 3
Medulloblastoma, Astrocytoma, Glioblastoma multiforme OMIM:613029
Immunodeficiency 15B
Agammaglobulinemia, Failure to thrive, Decreased circulating antibody level, Chronic diarrhea OMIM:615592
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal brainstem morphology ORPHA:99852
Fanconi Anemia, Complementation Group U
Patent ductus arteriosus, Chromosome breakage OMIM:617247
Hyperimmunoglobulinemia D With Periodic Fever
Growth delay, Increased circulating IgA level, Hepatomegaly, Abdominal pain, Peritonitis, Diarrhe... ORPHA:343
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Nephritis, Macroglossia, Splenomegaly, Leukopenia, Macrovesicular hepatic steatosis... OMIM:617303
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Decreased T cell act... ORPHA:66628
Vici Syndrome
Failure to thrive, Decreased circulating IgG level, Cleft palate, Decreased T cell activation, De... OMIM:242840
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Abnormal circu... ORPHA:158057
Postinfectious Vasculitis
Unusual gastrointestinal infection, Rheumatoid factor positive, Increased inflammatory response, ... ORPHA:48435
Bile Acid Synthesis Defect, Congenital, 1
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Splenomegaly, Steatorrhea, Cirrhosis, Hepa... OMIM:607765
Fanconi Anemia, Complementation Group B
Intrauterine growth retardation, Duodenal atresia, Hypergonadotropic hypogonadism, Tracheoesophag... OMIM:300514
Mannosidosis, Alpha B, Lysosomal
Hepatomegaly, Vacuolated lymphocytes, Macroglossia, Splenomegaly, Decreased circulating antibody ... OMIM:248500
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Decreased T cell act... ORPHA:179494
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypoparathyroidism, Decreased circulating IgA level, Gastroesophageal reflux, High, narrow palate... ORPHA:369837
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Agammaglobulinemia, Cryptorchidism, Decreased circulating antibody level, Intrauterine growth ret... OMIM:616910
Nijmegen Breakage Syndrome
Anal atresia, Neoplasm, B-cell lymphoma, Glioma, Cleft palate, Short stature, Cachexia, Rhabdomyo... ORPHA:647
Idiopathic Hypereosinophilic Syndrome
Pancreatitis, Neutrophilia, Cervical lymphadenopathy, Eczema, Vomiting, Erythroderma, Portal fibr... ORPHA:3260
Familial Multiple Lipomatosis
Odontogenic keratocysts of the jaw, Medulloblastoma, Functional intestinal obstruction ORPHA:199276
Myasthenia Gravis
Systemic lupus erythematosus, Anti-muscle-specific tyrosine kinase antibody, Rheumatoid arthritis... ORPHA:589
Cyanosis And Hepatic Disease
Hepatitis OMIM:219400
Gaucher Disease Type 1
Increased circulating antibody level, Hepatomegaly, Abdominal pain, Splenomegaly, Anorexia, Cirrh... ORPHA:77259
Rhabdoid Tumor Predisposition Syndrome 1
Choroid plexus carcinoma, Medulloblastoma OMIM:609322
Combined Immunodeficiency-Enteropathy Spectrum
Intrauterine growth retardation, Bloody diarrhea, Abdominal distention, Intestinal atresia, Intes... ORPHA:436252
Myotonic Dystrophy 2
Decreased circulating IgG level, Decreased circulating total IgM, Oligospermia, Hypogonadism, Ele... OMIM:602668
Pleuropulmonary Blastoma
Pleuropulmonary blastoma, Rhabdomyosarcoma, Medulloblastoma OMIM:601200
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level, Short stature OMIM:208600
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Lymphopenia, Skin rash, Anterior uveitis, Hemolytic anemia, Ileal ulcer, Lupus anticoagu... OMIM:616744
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Failure to thrive, Bloody diarrhea, Defective T cell proliferation, Leukocytosis, Hypochromic ane... OMIM:618213
Zygomycosis
Melena, Pancreatitis, Gastritis, Unusual gastrointestinal infection, Diarrhea, Vomiting, Acute in... ORPHA:73263
Panniculitis-Induced Localized Lipodystrophy
Antinuclear antibody positivity, Inflammatory abnormality of the skin, Abnormal immunoglobulin level ORPHA:90159
Gaucher Disease
Increased circulating antibody level, Osteomyelitis, Hepatomegaly, Abdominal pain, Splenomegaly, ... ORPHA:355
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Increased circulating IgG level, Weight loss, Decr... ORPHA:29073
Bacterial Toxic-Shock Syndrome
Abscess, Diarrhea, Vomiting, Myocarditis, Pneumonia, Septic arthritis, Increased circulating myel... ORPHA:36234
Mevalonic Aciduria
Failure to thrive, Fluctuating hepatomegaly, Morbilliform rash, Leukocytosis, Fluctuating splenom... OMIM:610377
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Failure to thrive, Hepatomegaly, Splenomegaly, Short stature, Impaired T cell function, Low alkal... OMIM:201100
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Porphyria Cutanea Tarda
Recurrent bacterial skin infections, Systemic lupus erythematosus, Viral hepatitis, Periportal fi... ORPHA:101330
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8 concentration, Hepatomegaly, Thrombocytopenia, Epididymitis, ... OMIM:256040
Subependymoma
Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ... ORPHA:251639
Ependymoma
Neoplasm of the liver, Ovarian neoplasm, Supratentorial neoplasm, Spinal cord tumor, Neoplasm of ... ORPHA:251636
Xeroderma Pigmentosum, Complementation Group F
Defective DNA repair after ultraviolet radiation damage, Deficient excision of UV-induced pyrimid... OMIM:278760
Hepatocellular Carcinoma
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis OMIM:114550
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgA level, Xerostomia, Antinuclear antibody positivity, Myositis, Keratocon... ORPHA:79078
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Neuroblastoma, Acute monocytic leukemia, Lymphoma, Myelodysplasia... OMIM:601399
Melioidosis
Splenic abscess, Prostatitis, Osteoarthritis, Brain abscess, Abnormality of the spleen, Parotitis... ORPHA:31202
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Steatorrhea, Short stature, Severe postnatal growth retardation, Hypoc... ORPHA:440713
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level, Cleft palate ORPHA:85317
Igg4-Related Submandibular Gland Disease
Increased circulating antibody level, Abnormal pancreas morphology, Sialadenitis, Prostatitis, Co... ORPHA:449432
Pneumocystosis
Increased circulating antibody level, Neoplasm, Chronic oral candidiasis, Interstitial pneumoniti... ORPHA:723
Lissencephaly Syndrome, Norman-Roberts Type
Dysphagia, Intrauterine growth retardation, Hypoplastic spleen, Feeding difficulties ORPHA:89844
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Say-Barber-Miller Syndrome
High palate, Transient hypogammaglobulinemia of infancy, Decreased circulating IgG level, Short s... ORPHA:3132
Aregenerative Anemia
Abnormality of interleukin secretion, Abnormal proportion of CD8-positive T cells, Neutropenia, E... ORPHA:101096
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Splenomegaly, Pancytopenia, Bone marrow hypocellula... ORPHA:86843
Medulloblastoma
Medulloblastoma OMIM:155255
Revesz Syndrome
Oral leukoplakia, Aplastic anemia, Bone marrow hypocellularity, Intrauterine growth retardation, ... OMIM:268130
Igg4-Related Kidney Disease
Pancreatitis, Complement deficiency, Lymphadenitis, Decreased serum complement C4, Rheumatoid fac... ORPHA:449395
Complement Component 4B Deficiency
Chronic active hepatitis, Decreased serum complement C4b, Recurrent sinusitis, Recurrent pneumoni... OMIM:614379
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Short stature, Leukopenia, Eczema, B lymphocytopenia, Rhizomelic arm shortening, Mye... ORPHA:508542
Hennekam Syndrome
Malabsorption, Lymphangioma, Lymphopenia, Mild postnatal growth retardation, Splenomegaly, Pulmon... ORPHA:2136
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Malabsorption, Lymphopenia, Abnormality of the pancreas, Agammaglobulinemia, Anemia, Aganglionic ... ORPHA:935
Lysinuric Protein Intolerance
Pancreatitis, Hepatomegaly, Hemophagocytosis, Steatorrhea, Hepatic failure, Complement deficiency... ORPHA:470
Hemophagocytic Syndrome Associated With An Infection
Neutropenia, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, Abnormal cytoki... ORPHA:158048
Alveolar Echinococcosis
Cutaneous abscess, Increased circulating antibody level, Decreased liver function, Pancreatic cys... ORPHA:284
Refractory Celiac Disease
Malabsorption, Inflammatory abnormality of the skin, Abdominal pain, Increased proportion of HLA ... ORPHA:398063
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Failure to thrive, Giant cell hepatitis, Cholestatic liver disease, Intrahepatic biliary atresia,... OMIM:208085
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Midline brainstem cleft, Fusion of the left and right thalami, Hypoplasia of the pons, Agenesis o... OMIM:617542
Immunodeficiency 67
Increased circulating IgE level, Liver abscess, Transient neutropenia OMIM:607676
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Transient hypogammaglobulinemia of infancy, Hypogonadism OMIM:251240
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Decreased mean corpuscular volume, Hepatocellular necrosis, Failure to thrive, Decreased circulat... OMIM:618278
Ring Chromosome 21 Syndrome
Amenorrhea, Infertility, Short stature, Decreased circulating antibody level, Azoospermia ORPHA:1445
Fanconi Anemia
High palate, Absent testis, Decreased fertility in males, Cleft palate, Tracheoesophageal fistula... ORPHA:84
Platelet Disorder, Undefined
Hematological neoplasm, Thrombocytopenia, Impaired platelet aggregation, Neuroblastoma OMIM:173420
Trichohepatoenteric Syndrome 2
Failure to thrive, Bloody diarrhea, Colitis, Hepatomegaly, Small for gestational age, Cirrhosis, ... OMIM:614602
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Agenesis of corpus callosum, Abnormal brainstem morphology ORPHA:255182
Inflammatory Bowel Disease 29
Crohn's disease, Ulcerative colitis OMIM:618077
Trichohepatoenteric Syndrome 1
Failure to thrive, Intrauterine growth retardation, Intractable diarrhea, Hepatomegaly, Splenomeg... OMIM:222470
African Iron Overload
Abnormal pancreas morphology, Hepatomegaly, Micronodular cirrhosis, Viral hepatitis, Peritonitis,... ORPHA:139507
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Increased red cell hemolysis by shear stress, Increas... OMIM:194380
Pearson Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Steatorrhea, Hepatic failure, Median cleft lip a... ORPHA:699
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Abnormal brainstem MRI signal intensity ORPHA:263410
Congenital Disorder Of Glycosylation, Type Iih
Elevated circulating aspartate aminotransferase concentration, Failure to thrive in infancy, Elev... OMIM:611182
Waldenström Macroglobulinemia
Malabsorption, Hepatomegaly, Splenomegaly, Anorexia, Cryoglobulinemia, Diarrhea, Normocytic anemi... ORPHA:33226
Tick-Borne Encephalitis
Leukocytosis, Anorexia, Leukopenia, Myelitis, Increased circulating IgG level, Vomiting, Abnormal... ORPHA:297
Gómez-López-Hernández Syndrome
Abnormal brainstem morphology ORPHA:1532
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Cleft palate, Hepatic failure, Cervical lymphadenopathy, Elevated circulating aspar... OMIM:619573
Coccidioidomycosis
Pancreatitis, Abscess, Pneumonia, Pericarditis, Abnormal sperm morphology, Lymphadenopathy, Osteo... ORPHA:228123
Sweet Syndrome
Abnormality of tumor necrosis factor secretion, Increased circulating interleukin 6 concentration... ORPHA:3243
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Exocrine pancreatic insufficiency, Steatorrhea, Cirrhosis, Chronic hepatitis, Keratoconj... OMIM:269200
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology ORPHA:411493
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level, Small for gestational age OMIM:300076
Neuronal Intestinal Pseudoobstruction
Patent ductus arteriosus, Malabsorption, Decreased circulating antibody level ORPHA:99811
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Cholelithiasis, Hypoparathyroidism, Malabsorption, Chronic active hepatitis, Iridocyclitis, Chron... OMIM:240300
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Increased circulating interleukin 6 concentration, Chronic gastritis, Colitis, Lymphocytosis, Ski... OMIM:301074
Wiskott-Aldrich Syndrome
Keratitis, Otitis media, Eczema, Hematochezia, Blepharitis, Conjunctivitis, Inflammation of the l... ORPHA:906
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma... OMIM:618849
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... OMIM:608203
Leukocyte Adhesion Deficiency Type Ii
Recurrent gastroenteritis, Failure to thrive, Keratitis, Narrow palate, Abnormal isohemagglutinin... ORPHA:99843
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Hiatus hernia, Splenomegaly, Cholestasis, Pancreatic hypoplasia, Hepatitis, Splenic... OMIM:610199