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
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Immunodeficiency 24
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:615897
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia,... OMIM:617514
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Chronic decreased circulating total IgG, Abnormal B cell count OMIM:613495
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Abnormal T cell count, Decreased proportion of CD8-positive T ce... OMIM:312863
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Failure to thrive, Decreased c... OMIM:607271
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Abnormal T cell count, Diarrhea, Recurrent pneumonia, Impaired T... OMIM:240500
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal circulating IgG level, Abnormal B cell c... OMIM:615615
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Failure to thrive, Decreased cir... OMIM:300400
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina... OMIM:619924
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level, Recurrent infection of the gastr... OMIM:609529
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating IgG level, Partial absence of specific antibody response to tetanus vaccine... OMIM:619824
Immunodeficiency 102
Decreased proportion of CD4-positive helper T cells, Hepatomegaly, Recurrent skin infections, Aut... OMIM:301082
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Abnormal T cell count, Diarrhea, Recurrent pneumonia,... OMIM:607594
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Inflammation of the large intestine, Increased circulating IgE level, Recurrent otitis media, Hyp... ORPHA:98813
Immunodeficiency 48
Pneumonia, Eczematoid dermatitis, Failure to thrive, Panhypogammaglobulinemia, Abnormal B cell co... OMIM:269840
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Lymphocytosis, Splenomegaly OMIM:606445
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased... OMIM:613493
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczematoid dermatitis, Increased circulating IgE level, Decreased proportion of CD8-positive T ce... OMIM:617241
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Decreased circulating IgA level, ... OMIM:616452
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Decreased circulating IgG level, Abnormal T cell count, Complete... OMIM:613494
Immunodeficiency 70
Verrucae, Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, R... OMIM:618969
Immunodeficiency 97 With Autoinflammation
Diarrhea, Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple... OMIM:619802
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Growth delay, Lymphopenia, Decreased circulating IgA level, Auto... OMIM:616005
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Abnormally low T cell receptor ... OMIM:618987
Immunodeficiency 112
Decreased circulating IgG level, Reduced natural killer cell count, Decreased circulating IgA lev... OMIM:620449
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Hepatos... OMIM:618534
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Neutropenia, Abn... OMIM:615214
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Protein-losing enteropathy, Recurrent pneumonia, Recurrent otiti... OMIM:613502
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Atopic dermatitis, Cutaneous abscess, Increased circulating IgE ... OMIM:618944
Immunodeficiency 44
Lymphopenia, Decreased circulating IgA level, Abnormal circulating IgG level, Elevated circulatin... OMIM:616636
Transcobalamin Deficiency
Decreased circulating IgG level, Abnormality of chromosome stability, Lymphopenia, Decreased circ... ORPHA:859
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,... OMIM:613500
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pneumonia, Decrea... OMIM:619281
Immunodeficiency 62
Decreased circulating IgG level, Decreased proportion of memory B cells, Complete or near-complet... OMIM:618459
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Bronchiectasis, Decrease... OMIM:618394
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, Decreased proportion of memory B cells, Reduced natural killer c... OMIM:619510
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Lymphopenia, Leukopenia, Postnatal growth retardation, Splenomeg... OMIM:620210
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Abnormal B cell morphology, Decreased circulating antibody level OMIM:616911
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphadenitis, Protracted diarrhea, Lymphopenia, Hepatosplenomegaly, Abnormal B cell count, Hepat... ORPHA:331206
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Diarrhea, Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells... ORPHA:276
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Recurrent otitis media, Decreased... OMIM:612692
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level, Hypereosinophilia, Abnormal B cell count, Abnormal proportion of... OMIM:212050
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Decreased specific pneumococcal antibody level, Partial absence of specific antibody response to ... OMIM:620430
Immunodeficiency 50
Lymphopenia, Decreased circulating antibody level, Neutropenia OMIM:300988
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating IgA level, Transient neutropenia, Recurren... OMIM:619707
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina... OMIM:606843
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit... ORPHA:169160
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Diarrhea, Eczematoid dermatitis, Lymphopenia... OMIM:616100
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Defective T c... OMIM:614493
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Abnormal T cell count, Inflammation of the large intestine, Fail... OMIM:615767
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the skin, Systemic lupus erythematosus, Increased circulating IgE level, Lymphopenia,... ORPHA:3261
Immunodeficiency 15B
Reduced natural killer cell count, Decreased lymphocyte proliferation in response to mitogen, Aga... OMIM:615592
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hemophagocytosis, Hepatitis, ... OMIM:300635
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Hepatomegaly, Autoimmune ... ORPHA:436159
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Decreased circulating IgG level, Diarrhea, Decreased circulating IgA level, B lymphocy... OMIM:614069
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Increased circulati... ORPHA:169154
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Decreased circul... OMIM:614699
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Ataxia-Telangiectasia
Abnormality of chromosome stability, Elevated circulating hepatic transaminase concentration, Apl... ORPHA:100
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Nijmegen Breakage Syndrome
Diarrhea, Glioma, Recurrent otitis media, Premature ovarian insufficiency, Anal atresia, Medullob... OMIM:251260
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Lymphoma, Recurrent otitis media, Decrease... OMIM:300853
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Reduced natural killer cell count, Partial absence of specific antibody respo... OMIM:618261
Immunodeficiency With Hyper-Igm, Type 1
Diarrhea, Enteroviral encephalitis, Increased circulating IgA level, Cirrhosis, Neutropenia, Hepa... OMIM:308230
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Abnormality of humoral immunity, Diarrhea, Inflammatory abnormality of the skin, Recurrent pneumo... ORPHA:277
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level OMIM:235900
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating IgG level, Decreased proportion of CD8-positive T cells, Decreased circulat... OMIM:611926
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Verrucae, Failure to thrive, Decreased circulating IgA level, Re... ORPHA:275
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Short stature, Neutropenia OMIM:610798
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased lymphocyte proliferation in response to anti-CD3, Increased circulating IgE level, Hepa... OMIM:606367
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612783
Immunodeficiency 8 With Lymphoproliferation
Gastroesophageal reflux, Recurrent otitis media, Lymphopenia, Complete or near-complete absence o... OMIM:615401
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Failure to thrive, Lymphoma, Recurrent otitis media, Decreased ... ORPHA:397596
Autoimmune Lymphoproliferative Syndrome
Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He... OMIM:601859
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Systemic lupus erythematosus, Recurrent otitis media, Lymphopenia, Autoimmunity, Splen... ORPHA:444463
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Systemic lupus erythematosus, Decreased p... ORPHA:331235
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... ORPHA:524
Immunodeficiency 9
Decreased circulating IgG level, Failure to thrive, Lymphopenia, Decreased circulating IgA level,... OMIM:612782
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diarrhea, Inflammatory abnormality of the skin, Increased circulating IgE level, Lymphopenia, Apl... OMIM:102700
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Decreased proportion of memory B cells, Decreased p... OMIM:618204
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level, Lymphoproliferative disorder, Absent leuko... OMIM:242880
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Splenomegaly, T... OMIM:615513
Immunodeficiency 92
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... OMIM:619652
Immunodeficiency 95
Decreased circulating IgG3 level, Lymphopenia, Increased circulating IgG3 level OMIM:619773
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T cell morphology, Absent i... OMIM:613501
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibody level OMIM:247800
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen... OMIM:605258
Immunodeficiency 54
Chromosome breakage, Reduced natural killer cell count, Failure to thrive, Postnatal growth retar... OMIM:609981
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Increased circulating IgE level, Recurrent otitis media, Decreased proportion ... OMIM:243700
Cernunnos-Xlf Deficiency
Lymphopenia, T lymphocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Decreased circulatin... ORPHA:169079
Autoimmune Lymphoproliferative Syndrome, Type Iia
Follicular hyperplasia, Antiphospholipid antibody positivity, Increased circulating IgA level, He... OMIM:603909
Bloom Syndrome
Neoplasm of the skin, Neoplasm of the colon, Stomach cancer, Abscess, Abnormal proportion of CD8-... ORPHA:125
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa... ORPHA:911
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil... OMIM:617638
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Colonic atresia, Lymphopenia, Psoriasiform dermatitis, Intestinal obstruction, Rec... OMIM:243150
Primary Intestinal Lymphangiectasia
Decreased circulating IgG level, Increased stool alpha1-antitrypsin concentration, Peritoneal eff... ORPHA:90362
Primary Sclerosing Cholangitis
Acute hepatic failure, Cholestasis, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Anti-thyroglobulin antibody positivity, Anti-beta-2-Glyco... OMIM:618048
Immunodeficiency 22
Decreased circulating IgG level, Diarrhea, Failure to thrive, Protracted diarrhea, Decreased circ... OMIM:615758
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Immunodeficiency, Common Variable, 14
Decreased circulating IgG level, Defective B cell differentiation, Decreased circulating IgA leve... OMIM:617765
X-Linked Agammaglobulinemia
Weight loss, Neutropenia, Chronic otitis media, Recurrent cutaneous abscess formation, Osteomyeli... ORPHA:47
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormality of humoral immunity, Abnormal CD4:CD8 ratio, Diarrhea, Protracted diarrhea, Pancytope... ORPHA:572
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Reduced natural killer cell count, Recurrent pneumonia, Atopic d... OMIM:619752
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Pancytopenia, Hypersplenism, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Reduced natural killer cell count, Diarrhea, Failure to thrive, Decreased circulating ... OMIM:242860
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:35078
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Ataxia-Telangiectasia
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, Hodgkin ... OMIM:208900
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Absent circulating B cells,... OMIM:619705
Sneddon Syndrome
Decreased circulating total IgM, Lymphopenia, Antiphospholipid antibody positivity OMIM:182410
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Decreased lympho... OMIM:620282
Autoinflammatory Disease, Systemic, With Vasculitis
Elevated gamma-glutamyltransferase level, Diarrhea, Cholestasis, Hepatosplenomegaly, Abnormal cir... OMIM:620376
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Recurrent otitis media, Facial papilloma, Autoimmune hemolytic anemia, ... OMIM:619220
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Verrucae, Eczematoid dermatitis, Intestinal lymphangiectasia, Po... OMIM:620632
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Microcephalic Primordial Dwarfism, Toriello Type
Severe short stature, Decreased circulating IgG level, Intrauterine growth retardation, Neutropen... ORPHA:2643
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Impaired lymphocy... OMIM:153600
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Decreased proportion of... OMIM:614878
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Decreased proportion of memory B cells, Decreased specific anti-polysaccharide antibody level, De... ORPHA:70593
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eczematoid dermatitis, Hepatitis, Failure to thrive, Increased circulating IgE level, Anti-glutam... OMIM:304790
Mismatch Repair Cancer Syndrome 1
Adenocarcinoma of the colon, T-cell lymphoma, Leukemia, Lymphoma, Oligodendroglioma, Ependymoma, ... OMIM:276300
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Absent... OMIM:619846
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Hepatomegaly... OMIM:308240
Immunodeficiency 57 With Autoinflammation
Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci... OMIM:618108
Agammaglobulinemia, X-Linked
Recurrent otitis media, Lymph node hypoplasia, Prostatitis, Neutropenia, Epididymitis, Pyoderma, ... OMIM:300755
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Decreased specific pneumococcal antibody level, Minimal change glomerulonephritis, Autoimmunity, ... OMIM:617006
Immunodeficiency 96
Decreased circulating IgG level, Increased mean corpuscular volume, Increased proportion of gamma... OMIM:619774
Immunodeficiency 17
Abnormal B cell morphology, Anoperineal fistula, Eczematoid dermatitis, Failure to thrive, Chroni... OMIM:615607
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Gastroesophageal reflux, Hepatitis, Failure to thrive in infancy, Decreased circulating IgA level... OMIM:613385
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Decreased circulating IgA level, Macronodular cirrhosis, Abnormal T cell morphology, Short statur... OMIM:215250
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Recurrent pneumonia, Cutaneous abscess, Eczematoid dermatitis, Chronic mucocut... OMIM:618282
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Fanconi Anemia, Complementation Group D1
Bone marrow hypocellularity, T-cell acute lymphoblastic leukemias, Failure to thrive, Intrauterin... OMIM:605724
Immunoglobulin A Deficiency 1
Decreased circulating IgA level, Malabsorption, Recurrent infection of the gastrointestinal tract... OMIM:137100
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Diarrhea, Failure to thrive, Recurrent otitis media, Decreased CD4:CD8 ratio, Autoimmunity, Splen... OMIM:618495
Bloom Syndrome
Decreased circulating IgG level, Chromosome breakage, Abnormality of chromosome stability, Small ... OMIM:210900
Neutropenia, Chronic Familial
Neutropenia, Increased circulating antibody level OMIM:162700
Immunodeficiency 27A
Pneumonia, Diarrhea, Rheumatoid factor positive, Enlarged mesenteric lymph node, Anorexia, Hepato... OMIM:209950
Autoimmune Hepatitis
Inflammation of the large intestine, Increased circulating antibody level, Cirrhosis, Glomerulone... ORPHA:2137
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating IgG level, Panuveitis, Osteomyelitis, Hepatosplenomegaly, Panniculitis, Com... OMIM:301081
Macrophage Activation Syndrome
Hemophagocytosis, Systemic lupus erythematosus, Elevated circulating alanine aminotransferase con... ORPHA:158061
Griscelli Syndrome
Bone marrow hypocellularity, Hepatitis, Leukopenia, Splenomegaly, Lymphadenopathy, Thrombocytopen... ORPHA:381
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Autosomal Agammaglobulinemia
Diarrhea, Verrucae, Bronchiectasis, Hepatitis, Failure to thrive, Osteomyelitis, Malabsorption, S... ORPHA:33110
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphoma, Pancytopenia, Hemolytic anemia, Autoimmunity, Splenomegaly, Follicular hyperplasia, Inc... OMIM:614470
Fanconi Anemia, Complementation Group J
Bone marrow hypocellularity, Intrauterine growth retardation, Chromosomal breakage induced by cro... OMIM:609054
Immunodeficiency 25
Recurrent pneumonia, Protracted diarrhea, Increased circulating IgE level, Complete or near-compl... OMIM:610163
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, A... ORPHA:37042
Immunodeficiency 82 With Systemic Inflammation
Diarrhea, Decreased circulating total IgG, Anoperineal fistula, Pustular rash, Recurrent otitis m... OMIM:619381
Immunodeficiency 20
Reduced natural killer cell activity, Reduced natural killer cell count OMIM:615707
Lymphoproliferative Syndrome 1
Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion... OMIM:613011
Immunodeficiency 19
Abnormal B cell morphology, T lymphocytopenia, Abnormal natural killer cell morphology OMIM:615617
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Diarrhea, Failure to thrive, Failure to thrive secondary to recurrent infections, Panh... OMIM:601457
Fanconi Anemia, Complementation Group T
Bone marrow hypocellularity, Pancytopenia, Acute myeloid leukemia, Chromosomal breakage induced b... OMIM:616435
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Decreased circulating IgA level, Intrauterine growth retardation, Recurrent sk... OMIM:617744
Turcot Syndrome With Polyposis
Diarrhea, Glioma, Hepatoblastoma, Brain neoplasm, Desmoid tumors, Leukemia, Basal cell carcinoma,... ORPHA:99818
Alpha-Heavy Chain Disease
Lymphoma, Malabsorption, Abnormal small intestine morphology, Splenomegaly, Dysgammaglobulinemia,... ORPHA:100025
Reticular Dysgenesis
Diarrhea, Aplasia/Hypoplasia of the thymus, Failure to thrive, Leukopenia, Malabsorption, Skin ra... ORPHA:33355
Icf Syndrome
Abnormality of chromosome stability, Lymphopenia, Malabsorption, Protruding tongue, Anemia, Macro... ORPHA:2268
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Diarrhea, Eczematoid dermat... ORPHA:83471
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Reticular Dysgenesis
Impaired T cell function, Lack of T cell function, Lymphopenia, Congenital agranulocytosis, Leuko... OMIM:267500
Pgm3-Cdg
Allergic rhinitis, Abnormal CD4:CD8 ratio, Increased circulating IgE level, Lymphopenia, Esophagi... ORPHA:443811
Immunodeficiency 47
Hepatic bridging fibrosis, Decreased circulating total IgG, Chronic decreased circulating total I... OMIM:300972
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Abnormal macrophage morphology, Hypopl... ORPHA:2585
Immunodeficiency 61
Recurrent otitis media, Obesity, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased... OMIM:300310
Celiac Disease, Susceptibility To, 1
Diarrhea, Postnatal growth retardation, Weight loss, Abdominal distention, Celiac disease, Abdomi... OMIM:212750
Mu-Heavy Chain Disease
Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Weight l... ORPHA:100024
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability, Anemia, Neutropenia, Thrombocytopenia, Leukemia, Myelodyspla... OMIM:614082
Mhc Class Ii Deficiency 1
Cutaneous anergy, Chronic mucocutaneous candidiasis, Failure to thrive, Protracted diarrhea, Panh... OMIM:209920
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Abnormal natural killer cell physiology, Splenomegaly, Recu... OMIM:613101
Ebola Hemorrhagic Fever
Acute pancreatitis, Gastrointestinal hemorrhage, Diarrhea, Vomiting, Hepatitis, Lymphopenia, Leuk... ORPHA:319218
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Immunodeficiency 86
Decreased circulating IgG level, Increased circulating IgM level, Impaired oxidative burst OMIM:619549
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Verrucae, Increased circulating IgE level, Squamous cell carcinoma ... ORPHA:217390
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Hereditary Mixed Polyposis Syndrome
Hematochezia, Intussusception, Refractory anemia, Adenomatous colonic polyposis, Endometrial carc... ORPHA:157794
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Lymphopenia, Intestinal obstruction, Cirrhosis, Celiac disease, Gastrointest... ORPHA:90363
Fanconi Anemia, Complementation Group N
Aplastic anemia, Postnatal growth retardation, Medulloblastoma, Nephroblastoma, Acute myeloid leu... OMIM:610832
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Abnormal B cell morphology, Recurrent otitis media, Intrauterine growth retardation, Cryptorchidi... OMIM:616910
Dyskeratosis Congenita, Digenic
Decreased circulating IgG level, Gastroesophageal reflux, Failure to thrive, Oral leukoplakia, Sq... OMIM:620040
Schnitzler Syndrome
Lymphoma, Leukocytosis, Splenomegaly, Skin rash, Hepatomegaly, Lymphadenopathy, Arthritis, Anemia... ORPHA:37748
Autoimmune Polyendocrinopathy Type 4
Rheumatoid arthritis, Xerostomia, Antiphospholipid antibody positivity, Iridocyclitis, Tubulointe... ORPHA:227990
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Diarrhea, Increased circulating IgE level, Abnormal delayed ... OMIM:301000
Q Fever
Hepatosplenomegaly, Increased circulating antibody level, Lupus anticoagulant, Antiphospholipid a... ORPHA:781
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Immunodeficiency 43
Decreased circulating IgG level, Reduced natural killer cell count, Decreased specific antibody r... OMIM:241600
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Rhizomelia, Eczematoid dermatitis, Leukopenia, Thrombocytopenia, Ane... OMIM:618116
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Immunodeficiency 116
Absence of CD8-positive T cells OMIM:608957
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Vomiting, Increased circulating lactate dehydrogenase concentration, Eczemat... OMIM:617780
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Cleft soft palate, Acute myeloi... ORPHA:124
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Abnormal T cell count, Chronic decreased circulat... OMIM:613496
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Systemic lupus erythematosus, Recurrent otitis media, Ps... ORPHA:183675
Transcobalamin Ii Deficiency
Decreased circulating IgG level, Diarrhea, Vomiting, Failure to thrive, Decreased circulating IgA... OMIM:275350
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Glioma Susceptibility 3
T-cell acute lymphoblastic leukemias, B Acute Lymphoblastic Leukemia, Medulloblastoma, Nephroblas... OMIM:613029
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to mitogen, Reduced natural killer cell count, Dec... ORPHA:221139
Lymphoproliferative Syndrome 2
Decreased lymphocyte proliferation in response to mitogen, Recurrent pneumonia, Aplastic anemia, ... OMIM:615122
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Autoimmune Polyendocrinopathy Type 3
Rheumatoid arthritis, Xerostomia, Autoimmune hypoparathyroidism, Antiphospholipid antibody positi... ORPHA:227982
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Decreased circulating IgG level, Severe B lymphocytopenia, Hepatic fibrosis, El... OMIM:620005
Whim Syndrome 1
Decreased circulating IgG level, Verrucae, Neutropenia, Decreased circulating antibody level, Bro... OMIM:193670
Immunodeficiency, Common Variable, 10
Decreased circulating IgG level, Recurrent pneumonia, Anti-thyroglobulin antibody positivity, Fre... OMIM:615577
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, Chronic diarrhea, B-cell lymphoma, Lymphadenopath... OMIM:619164
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Intrauterine growth retardation, Pancytopenia, Abnormality of chromosome stability OMIM:600546
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Increased circulating ... OMIM:615285
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis OMIM:607624
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Hematochezia, Eczematoid dermatitis, Hepatitis, Increased circ... OMIM:620565
Sting-Associated Vasculopathy, Infantile-Onset
Pustular rash, Rheumatoid factor positive, Failure to thrive, Lymphopenia, Leukopenia, Malar rash... OMIM:615934
Immunodeficiency 114, Folate-Responsive
Decreased circulating IgG level, Atopic dermatitis, Increased circulating IgE level, Lymphopenia,... OMIM:620603
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
Acute pancreatitis, Recurrent pneumonia, Recurrent tonsillitis, Granuloma, Lymphadenitis, Eczemat... OMIM:618935
Smith-Kingsmore Syndrome
Rhizomelia, Large for gestational age, Decreased circulating IgA level, Cryptorchidism, Thrombocy... OMIM:616638
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Reduced natural killer cell count, Inflammation of the large intesti... OMIM:620133
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Pneumonia, Failure to thrive, Panhypogammag... OMIM:602450
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Bone marrow hypocellularity, Antineutrophil antibody positivity,... OMIM:301078
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Laryngeal papilloma, Hypereosinophilia, Autoimmune hemolytic anemia, Splenomeg... OMIM:617388
Immunodeficiency 104
Pneumonia, Diarrhea, Gastroesophageal reflux, Eczematoid dermatitis, Chronic mucocutaneous candid... OMIM:608971
Immunodeficiency 46
Conjunctivitis, Failure to thrive, Chronic diarrhea, Neutropenia, Anemia, Intermittent thrombocyt... OMIM:616740
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczematoid dermatitis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Decreased circulati... OMIM:615952
Neuroendocrine Neoplasm Of Appendix
Protracted diarrhea, Nausea and vomiting, Abnormal bowel sounds, Anorexia, Adenocarcinoma of the ... ORPHA:100079
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated gamma-glutamyltransferase level, Inflammation of the large intestine, Cholestasis, Eleva... ORPHA:562639
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Abnormal T cell count, Diarrhea, Panhypogammaglobulinemia, Recurrent otitis media, Pyo... OMIM:307200
Xq28 (MECP2) duplication
Gastroesophageal reflux, Failure to thrive, Decreased circulating IgA level, Feeding difficulties... DECIPHER:45
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ... OMIM:618986
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Diarrhea, Decreased lymphocyte proliferation in response to an... OMIM:619313
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Diarrhea, Hepatosplenomegaly, Pancytopenia, Abnormal circ... ORPHA:79124
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Abscess, Decre... OMIM:619374
Familial Adenomatous Polyposis
Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ... ORPHA:733
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents, Thrombocytopeni... OMIM:617243
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Short stature, Bronchiectasis OMIM:615139
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Systemic lupus erythematosus, Chronic m... ORPHA:90280
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Infectious encep... ORPHA:1163
Thymoma
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Systemic lupus erythemato... ORPHA:99867
Roifman Syndrome
Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Postnatal growth retardation,... ORPHA:353298
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Punctate Palmoplantar Keratoderma Type 1
Adenocarcinoma of the colon, Pancreatic adenocarcinoma, Stomach cancer, Prostate cancer, Esophage... ORPHA:79501
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
N Syndrome
Leukemia, Neoplasm, Abnormality of chromosome stability, Cryptorchidism OMIM:310465
Immunodeficiency 68
Abnormal natural killer cell count, T lymphocytopenia, Abscess, B lymphocytopenia OMIM:612260
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Cutaneous anergy, Absent natural killer cells, Failure to thrive, Decreased lymphocyte... OMIM:600802
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Hodgkin lymphoma, Acute myeloid leukemia, Hem... ORPHA:158057
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Erythroderma, Neutropenia, Hepatomegaly, Jaundice, Reduced natural killer cell ... ORPHA:540
Bone Marrow Failure Syndrome 3
Bone marrow hypocellularity, Chromosome breakage, Aplastic anemia, Increased mean corpuscular vol... OMIM:617052
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Lymphopenia, Malabsorption, Intestinal lymphangiectasia OMIM:152800
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Diarrhea, Inflammatory abnormality of the skin, Lymphopenia, Hepatosplenomegaly, Abnormal circula... ORPHA:391487
Simple Cryoglobulinemia
Nephritis, Monoclonal immunoglobulin M proteinemia, Gastrointestinal hemorrhage, Rheumatoid facto... ORPHA:91139
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia, High palate OMIM:613506
Boutonneuse Fever
Diarrhea, Elevated circulating hepatic transaminase concentration, Cervical lymphadenopathy, Leuk... ORPHA:83313
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Diarrhea, Failure to thrive in infancy, Leukocytosis, Panniculitis, Chronic diarrhea, Skin rash, ... OMIM:617099
Lipodystrophy, Congenital Generalized, Type 4
Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Failure to thrive, ... OMIM:613327
Common Variable Immunodeficiency
Pneumonia, Bronchiectasis, Elevated circulating hepatic transaminase concentration, Lymphoma, Fai... ORPHA:1572
Mogs-Cdg
Decreased circulating IgG level, Nasogastric tube feeding, Decreased circulating IgA level, Hepat... ORPHA:79330
Gardner Syndrome
Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ... ORPHA:79665
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Maternal Uniparental Disomy Of Chromosome 1
Gastroesophageal reflux, Growth delay, Failure to thrive, Panhypogammaglobulinemia, Pancytopenia,... ORPHA:251009
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Decreased circulating antibody level, Malabsorption ORPHA:1116
Complement Component C1S Deficiency
Hashimoto thyroiditis, Abnormality of complement system, Hepatitis, Systemic lupus erythematosus OMIM:613783
Legionnaires Disease
Bone marrow hypocellularity, Diarrhea, Hepatitis, Lymphopenia, Nausea and vomiting, Splenomegaly,... ORPHA:549
Trichothiodystrophy 3, Photosensitive
Neoplasm of the skin, Meckel diverticulum, Failure to thrive, Bilateral cryptorchidism, Lymphopen... OMIM:616395
Primary Biliary Cholangitis
Elevated gamma-glutamyltransferase level, Elevated circulating alkaline phosphatase concentration... ORPHA:186
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... OMIM:614172
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Postnatal growth retardation, Leukopenia, Intrauterine growth retard... OMIM:615190
Blue Rubber Bleb Nevus
Intestinal bleeding, Volvulus, Abnormality of the liver, Hemangioma, Iron deficiency anemia, Thro... OMIM:112200
Rasmussen Subacute Encephalitis
Anti-dsDNA antibody positivity, Autoimmunity, Antinuclear antibody positivity, Decreased circulat... ORPHA:1929
Fanconi Anemia, Complementation Group S
Chromosome breakage, Failure to thrive, Ovarian carcinoma, Anemia, Narrow palate, Ovarian neoplas... OMIM:617883
Fanconi Anemia, Complementation Group F
Pneumonia, Bone marrow hypocellularity, Failure to thrive, Decreased response to growth hormone s... OMIM:603467
Rosaï-Dorfman Disease
Anemia, Dysgammaglobulinemia, Lymphadenopathy ORPHA:158014
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Granuloma, Hemophagocytosis, Failure to thrive, Hepa... OMIM:619858
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Apc-Related Attenuated Familial Adenomatous Polyposis
Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ... ORPHA:247806
Dubowitz Syndrome
Decreased circulating IgG level, Gastroesophageal reflux, Aplastic anemia, Eczematoid dermatitis,... OMIM:223370
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Hepatic fibrosis, Diarrhea, Vomiting, Failure to thrive, Elevate... OMIM:212065
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Absent circulating B cells, Thrombocytopenia OMIM:619693
Leishmaniasis
Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopenia, Abnormal macro... ORPHA:507
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgA level, Splenomega... OMIM:612301
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Antineutrophil antibody positivity, Hepatitis, Acute hepatic failure, Failure to thrive in infanc... ORPHA:228426
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:508533
Macrocephaly/Autism Syndrome
Recurrent otitis media, Lymphopenia, Obesity, Large for gestational age, Splenomegaly, Hepatomega... OMIM:605309
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Acute hepa... ORPHA:905
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... OMIM:242700
Adult Idiopathic Neutropenia
Lymphopenia, Recurrent aphthous stomatitis, Helicobacter pylori infection, Neutropenia, Monocytos... ORPHA:2688
Adult-Onset Still Disease
Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Hepatitis, ... ORPHA:829
Acute Erythroid Leukemia
Bone marrow hypocellularity, Monoclonal immunoglobulin M proteinemia, Pancytopenia, Leukopenia, E... ORPHA:318
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Sézary Syndrome
Neoplasm of the skin, Lymphoma, Abnormal lymphocyte morphology, Splenomegaly, Abnormal immunoglob... ORPHA:3162
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Recurrent pneumonia, Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Fibroma, Short statu... OMIM:619750
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Secretory diarrhea, Failure to thrive, Pancytopenia, Villous a... OMIM:616050
Lig4 Syndrome
Acute leukemia, Abnormality of chromosome stability, Lymphoma, Pancytopenia, Malabsorption, Leuko... ORPHA:99812
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage, Growth delay OMIM:278780
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Eosinophilic granuloma, Recurrent otitis media, Elevat... OMIM:616433
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center, Osteomyelitis, Myelodysplasia, Recurrent infection of the ... OMIM:608184
Aicardi-Goutieres Syndrome 6
Intrauterine growth retardation, Chilblains, Splenomegaly, Increased circulating Interferon-alpha... OMIM:615010
Immunodeficiency 23
Allergic rhinitis, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Rheumatoid factor po... OMIM:615816
Primary Sjögren Syndrome
Arteritis, Xerostomia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Increase... ORPHA:289390
Fanconi Anemia, Complementation Group I
Bone marrow hypocellularity, Decreased response to growth hormone stimulation test, Intrauterine ... OMIM:609053
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level, Episodic vomiting, Gastrostomy tube feeding in infancy OMIM:618973
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Oral leukoplak... OMIM:619767
Riddle Syndrome
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Decreased circulating ... ORPHA:420741
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Impaired... OMIM:613179
Fanconi Anemia, Complementation Group Q
Chromosome breakage, Bone marrow hypocellularity, Anteriorly placed anus, Biliary atresia, Esopha... OMIM:615272
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Decreased circulating IgA level, Large for gestational age, Cryptorchidism, Lactose intolerance, ... ORPHA:457485
Hyper-Igd Syndrome
Diarrhea, Lymphadenitis, Vomiting, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Skin rash, Ren... OMIM:260920
Immunodeficiency 12
Decreased lymphocyte proliferation in response to anti-CD3, Esophageal stricture, Recurrent aphth... OMIM:615468
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Deficient excision of UV-induced pyrimidine dimers in DNA, Pancytope... OMIM:227645
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating IgG level, Recurrent pneumonia, Small for gestational age, Rhizomelia, Fail... OMIM:607143
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Autoimmune hemolytic anemia, ... OMIM:616576
Immunodeficiency 32B
Pneumonia, Failure to thrive, Impaired oxidative burst, Abnormal circulating IgG level, Splenomeg... OMIM:226990
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad... ORPHA:3392
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level, Leukocytosis, Splenomegaly OMIM:618042
Congenital Disorder Of Glycosylation, Type Iil
Elevated gamma-glutamyltransferase level, Inflammation of the large intestine, Elevated circulati... OMIM:614576
Attenuated Familial Adenomatous Polyposis
Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Fibroma,... ORPHA:220460
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia OMIM:314000
Graft Versus Host Disease
Inflammatory abnormality of the skin, Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Elevated ci... ORPHA:39812
Acquired Partial Lipodystrophy
Decreased circulating complement C3 concentration, Lymphocytosis ORPHA:79087
Fanconi Anemia, Complementation Group O
Chromosome breakage, Cryptorchidism, Neonatal death OMIM:613390
Familial Adenomatous Polyposis 1
Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno... OMIM:175100
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Lupus anticoagulant, Eryth... OMIM:615688
Aicardi-Goutieres Syndrome 7
Diarrhea, Pancytopenia, Chilblains, Hepatic steatosis, Increased circulating antibody level, Weig... OMIM:615846
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Fanconi Anemia, Complementation Group R
Bone marrow hypocellularity, Chromosomal breakage induced by crosslinking agents, Anemia, Anal at... OMIM:617244
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Elevated circulating hepatic transaminase concentration, Exocrine pancreatic insufficiency, Abnor... OMIM:618752
Iga Pemphigus
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Eosinophilia, Increased circul... ORPHA:555905
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Neoplasm of the rectum, Brain neoplasm, Adenomatous colonic polyposis, Ade... ORPHA:447877
Fanconi Anemia, Complementation Group D2
Bone marrow hypocellularity, Deficient excision of UV-induced pyrimidine dimers in DNA, Annular p... OMIM:227646
Igg4-Related Aortitis
Increased circulating IgE level, Reduced circulating complement concentration, Increased circulat... ORPHA:449400
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the scrotum, Uterine neoplasm, Increased circulating lactate dehydrogenase concentrat... ORPHA:370348
Cutaneous Neuroendocrine Carcinoma
Neoplasm of the outer ear, Squamous cell carcinoma of the skin, Chronic noninfectious lymphadenop... ORPHA:79140
Good Syndrome
Thymoma, Mediastinal lymphadenopathy, Diarrhea, Aplasia/Hypoplasia of the thymus, Recurrent skin ... ORPHA:169105
Cowden Syndrome 1
Thyroiditis, Thyroid adenoma, Colonic diverticula, Subcutaneous lipoma, Meningioma, Goiter, Fibro... OMIM:158350
Medulloblastoma
Elevated circulating hepatic transaminase concentration, Nausea and vomiting, Medulloblastoma, Ad... ORPHA:616
Papa Syndrome
Crohn's disease, Increased inflammatory response, Myositis, Increased circulating antibody level,... ORPHA:69126
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Gastroesophageal reflux, Increased circulating IgE level, Eosinophilic infiltr... OMIM:620532
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Failure to thrive, Rectal abscess, Panhypogammaglobulinemia, Recurrent otiti... OMIM:601495
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Neutropenia, B lymphocytopenia, Intermittent throm... OMIM:150550
Immunodeficiency 59 And Hypoglycemia
Arteritis, Acne inversa, Herpes simplex encephalitis, Recurrent aphthous stomatitis, Malabsorptio... OMIM:233600
Drug Reaction With Eosinophilia And Systemic Symptoms
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters... ORPHA:139402
Schimke Immuno-Osseous Dysplasia
Minimal change glomerulonephritis, Lymphopenia, Abnormal lymphocyte physiology, Abnormal intestin... ORPHA:1830
Hepatitis Delta
Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Nausea... ORPHA:402823
Congenital Disorder Of Glycosylation, Type Iib
Elevated circulating aspartate aminotransferase concentration, Decreased circulating IgA level, R... OMIM:606056
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Hy... ORPHA:848
Prolidase Deficiency
Recurrent pneumonia, Eczematoid dermatitis, Failure to thrive, Systemic lupus erythematosus, Elev... OMIM:170100
Hereditary Folate Malabsorption
Cheilitis, Diarrhea, Gastroesophageal reflux, Failure to thrive, Pancytopenia, Nausea and vomitin... ORPHA:90045
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:114580
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Splenomegaly, Hodgkin lymphoma, Ant... OMIM:619375
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Cervix cancer, Adenocarcinoma of ... OMIM:620189
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2
Increased susceptibility to spontaneous sister chromatid exchange OMIM:618097
Angiostrongyliasis
Vomiting, Hypereosinophilia, Increased circulating specific IgE antibody, Nausea, Abdominal pain,... ORPHA:74
Rift Valley Fever
Melena, Elevated circulating hepatic transaminase concentration, Hepatitis, Skin rash, Infectious... ORPHA:319251
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Severe B lymphocytopenia, Cholelithiasis, Eczematoid dermatitis, Pancreatic hypoplasia, Failure t... ORPHA:83617
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Weight loss, Glomerulonephri... ORPHA:1304
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent pneumonia, Failure to thrive, Recurrent otitis media, Decreased response to growth horm... ORPHA:293978
Alg12-Cdg
Recurrent pneumonia, Gastroesophageal reflux, Elevated circulating hepatic transaminase concentra... ORPHA:79324
Mirage Syndrome
Gastroesophageal reflux, Aspiration pneumonia, Lymphopenia, Leukopenia, Decreased testicular size... OMIM:617053
Syndromic Diarrhea
Lymphopenia, Hepatoblastoma, Cirrhosis, Hepatomegaly, Patent ductus arteriosus, Panhypogammaglobu... ORPHA:84064
Insulin-Resistance Syndrome Type B
Systemic lupus erythematosus, Polycystic ovaries, Increased body weight, Hodgkin lymphoma, Decrea... ORPHA:2298
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Large intestinal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of the colon, Colorecta... ORPHA:247798
Immunodeficiency 56
Hepatic failure, Recurrent pneumonia, Failure to thrive, Panhypogammaglobulinemia, Recurrent otit... OMIM:615207
Bohring-Opitz Syndrome
Cholelithiasis, Vomiting, Annular pancreas, Intrauterine growth retardation, Medulloblastoma, Nep... ORPHA:97297
Fragile X Syndrome
Folate-dependent fragile site at Xq28 OMIM:300624
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Hematochezia, Hepatic failure, Diarrhea, Intrahepatic cholestasis, Hep... OMIM:613812
Fanconi Anemia, Complementation Group A
Deficient excision of UV-induced pyrimidine dimers in DNA, Pancytopenia, Cryptorchidism, Anemia, ... OMIM:227650
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated circulating hepatic transaminase concentration, Failure to thrive, Lymphopenia, Splenome... OMIM:617591
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Viral hepatitis, Gastrointestinal infarctions, Abnormality of the li... ORPHA:91138
Basal Cell Nevus Syndrome 2
Neurofibroma, Meningioma, Medulloblastoma, Angiofibromas, Basal cell carcinoma OMIM:620343
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Diarrhea, Pituitary adenoma, Hepatitis, Celiac disease, Failure to thrive, Aut... ORPHA:199299
Dominant Beta-Thalassemia
Diarrhea, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopi... ORPHA:231226
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Diarrhea, Vomiting, Intestinal lymphangiectasia, Malabsorption, Intestinal obstruction, Abnormal ... OMIM:226300
Microsporidiosis
Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke... ORPHA:2552
Inflammatory Pseudotumor Of The Liver
Vomiting, Elevated circulating aspartate aminotransferase concentration, Increased hepatitis B vi... ORPHA:90003
Fanconi Anemia, Complementation Group E
Deficient excision of UV-induced pyrimidine dimers in DNA, Pancytopenia, Cryptorchidism, Anemia, ... OMIM:600901
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Disproportionate short stature, Lymphopenia, Hepatic cysts, Eosinophilia, Erythroderma, Anal atre... OMIM:617425
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Hematological neoplasm, Abnormal proportion of CD4-... ORPHA:217260
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Lambert Syndrome
Cholestasis, Failure to thrive in infancy, Intrauterine growth retardation, Intrahepatic biliary ... ORPHA:1296
Monosomy 9Q22.3
Large for gestational age, Medulloblastoma, Cardiac fibroma, Nephroblastoma, Ovarian fibroma, Odo... ORPHA:77301
Avian Influenza
Pneumonia, Myelitis, Diarrhea, Vomiting, Hepatitis, Increased circulating lactate dehydrogenase c... ORPHA:454836
Cartilage-Hair Hypoplasia
Rhizomelia, Abnormality of chromosome stability, Disproportionate short-limb short stature, Failu... ORPHA:175
Schimke Immunoosseous Dysplasia
Bilateral cryptorchidism, Lymphopenia, Pancytopenia, Abnormal T cell morphology, Intrauterine gro... OMIM:242900
Gorlin Syndrome
Meningioma, Neoplasm, Medulloblastoma, Cardiac fibroma, Cryptorchidism, Hypogonadotropic hypogona... ORPHA:377
Spondyloenchondrodysplasia
Pneumonia, Granuloma, Hepatitis, Systemic lupus erythematosus, Decreased response to growth hormo... ORPHA:1855
Burkitt Lymphoma
Gastrointestinal hemorrhage, Increased circulating lactate dehydrogenase concentration, Neoplasm ... ORPHA:543
Fanconi Anemia, Complementation Group L
Bone marrow hypocellularity, Chromosome breakage, Intrauterine growth retardation, Tracheoesophag... OMIM:614083
Cystic Echinococcosis
Cholestatic liver disease, Peritoneal abscess, Elevated gamma-glutamyltransferase level, Abnormal... ORPHA:400
Gaucher Disease Type 1
Hypersplenism, Hepatosplenomegaly, Pancytopenia, Increased circulating antibody level, Cirrhosis,... ORPHA:77259
Immunodeficiency 58
Allergic rhinitis, Esophagitis, Dysphagia, Chronic otitis media, Recurrent cutaneous abscess form... OMIM:618131
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, B lymphocytopenia, Hypochromic microcytic anemia, Schistocyto... OMIM:616084
Familial Multinodular Goiter
Sertoli cell neoplasm, Pleuropulmonary blastoma, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Pi... ORPHA:276399
Basal Cell Nevus Syndrome 1
Hamartomatous stomach polyps, Cardiac rhabdomyoma, Medulloblastoma, Cardiac fibroma, Ovarian carc... OMIM:109400
Bone Marrow Failure Syndrome 5
Growth delay, Oral leukoplakia, Hypogonadism, Erythroid hypoplasia, Anemia, Pure red cell aplasia... OMIM:618165
Mccune-Albright Syndrome
Irregular menstruation, Bone marrow hypocellularity, Gastroesophageal reflux, Hepatitis, Increase... ORPHA:562
Gaucher Disease
Pancytopenia, Increased circulating antibody level, Feeding difficulties in infancy, Cirrhosis, P... ORPHA:355
Monosomy 18Q
Secondary growth hormone deficiency, Failure to thrive, Bilateral cryptorchidism, Slender build, ... ORPHA:1600
Omenn Syndrome
Pneumonia, Diarrhea, Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Ane... OMIM:603554
Netherton Syndrome
Allergic rhinitis, Decreased circulating IgG level, Eczematoid dermatitis, Failure to thrive, Inc... OMIM:256500
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Whim Syndrome
Pneumonia, Recurrent pneumonia, Verrucae, Lymphadenitis, Cutaneous melanoma, Abnormal neutrophil ... ORPHA:51636
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Intrauterine growth retardati... ORPHA:294
Zika Virus Disease
Myelitis, Vomiting, Intrauterine growth retardation, Skin rash, Maculopapular exanthema, Infectio... ORPHA:448237
Spondyloepimetaphyseal Dysplasia, Krakow Type
Allergic rhinitis, Rhizomelia, Annular pancreas, Eczematoid dermatitis, Elevated circulating alka... OMIM:618162
Pyoderma Gangrenosum
Inflammation of the large intestine, Rheumatoid arthritis, Increased circulating antibody level, ... ORPHA:48104
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatic failure, Diarrhea, Intrahepatic cholestasis, Failure to thrive, Ele... OMIM:607765
Insulin Autoimmune Syndrome
Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Weight loss, Ar... ORPHA:411593
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Congenital Enterovirus Infection
Hepatic failure, Hepatitis, Cholestasis, Leukopenia, Leukocytosis, Abnormal macrophage morphology... ORPHA:292
Mgat2-Cdg
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Gastr... ORPHA:79329
Fanconi Anemia, Complementation Group P
Growth delay, Pancytopenia, Cryptorchidism, Squamous cell carcinoma, Chromosomal breakage induced... OMIM:613951
Fanconi Anemia, Complementation Group U
Chromosome breakage, Patent ductus arteriosus OMIM:617247
Obesity Due To Congenital Leptin Deficiency
Decreased testicular size, Obesity, Decreased proportion of CD4-positive helper T cells, Decrease... ORPHA:66628
Mannosidosis, Alpha B, Lysosomal
Macroglossia, Splenomegaly, Decreased circulating alpha-mannosidase activity, Reduced leukocyte a... OMIM:248500
Fanconi Anemia, Complementation Group B
Abnormality of chromosome stability, Aplastic anemia, Hypogonadism, Intrauterine growth retardati... OMIM:300514
Postinfectious Vasculitis
Abnormality of humoral immunity, Inflammatory abnormality of the skin, Increased circulating anti... ORPHA:48435
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Hypochromic anemia, Anoperineal fistula, Failure to thrive, Increased circulating IgE level, Leuk... OMIM:618213
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Feeding difficulties... ORPHA:3260
Epilepsy-Telangiectasia Syndrome
Short stature, Decreased circulating IgA level, Decreased circulating antibody level ORPHA:1951
Obesity Due To Leptin Receptor Gene Deficiency
Decreased testicular size, Obesity, Decreased proportion of CD4-positive helper T cells, Decrease... ORPHA:179494
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruction, Per... ORPHA:343
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Mucopolysaccharidosis-Plus Syndrome
Bone marrow hypocellularity, Nephritis, Recurrent pneumonia, Leukopenia, Splenomegaly, Hepatomega... OMIM:617303
Familial Multiple Lipomatosis
Functional intestinal obstruction, Medulloblastoma, Odontogenic keratocysts of the jaw ORPHA:199276
Myotonic Dystrophy 2
Decreased circulating IgG level, Hypogonadism, Elevated circulating follicle stimulating hormone ... OMIM:602668
Zygomycosis
Diarrhea, Ileitis, Pustule, Hematological neoplasm, Acute infectious pneumonia, Neutropenia, Abdo... ORPHA:73263
Fragile X Syndrome
Folate-dependent fragile site at Xq28 ORPHA:908
Nijmegen Breakage Syndrome
Acute leukemia, Recurrent pneumonia, Glioma, Abnormality of chromosome stability, Lymphoma, Anal ... ORPHA:647
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
High, narrow palate, Gastroesophageal reflux, Decreased circulating IgA level, Obesity, Abnormal ... ORPHA:369837
Myasthenia Gravis
Rheumatoid arthritis, Hepatitis, Anti-acetylcholine receptor antibody positivity, Systemic lupus ... ORPHA:589
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Rhabdoid Tumor Predisposition Syndrome 1
Choroid plexus carcinoma, Medulloblastoma OMIM:609322
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Abdominal distention, Jejunoileal ulceration, Hepatitis, Intestinal malrotati... ORPHA:436252
Mevalonic Aciduria
Diarrhea, Vomiting, Fluctuating splenomegaly, Failure to thrive, Increased circulating lactate de... OMIM:610377
Pleuropulmonary Blastoma
Rhabdomyosarcoma, Pleuropulmonary blastoma, Medulloblastoma OMIM:601200
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Diarrhea, Failure to thrive, Impaired T cell function, Hypogonadism, Decreased testicular size, S... OMIM:201100
Multiple Myeloma
Functional abnormality of the gastrointestinal tract, Splenomegaly, Increased circulating IgA lev... ORPHA:29073
Panniculitis-Induced Localized Lipodystrophy
Abnormal immunoglobulin level, Inflammatory abnormality of the skin, Antinuclear antibody positivity ORPHA:90159
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Bacterial Toxic-Shock Syndrome
Diarrhea, Abscess, Glomerulonephritis, Abdominal pain, Recurrent skin infections, Osteomyelitis, ... ORPHA:36234
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Hepatitis, Cholestasis, Portal hypertension, Severe postnatal growth r... ORPHA:440713
Immune Dysregulation, Autoimmunity, And Autoinflammation
Increased circulating interleukin 8 concentration, Cervical lymphadenopathy, Inguinal lymphadenop... OMIM:620514
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Skin rash, Lupus anticoagulant, Antinuclear antibody positivity, Thrombocytopenia, I... OMIM:616744
Pneumocystosis
Increased circulating lactate dehydrogenase concentration, Neoplasm, Interstitial pneumonitis, In... ORPHA:723
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 8 concentration, Microcytic anemia, Recurrent otitis media, Chr... OMIM:256040
Complement Component 4B Deficiency
Decreased circulating complement C4b concentration, Recurrent pneumonia, Recurrent otitis media, ... OMIM:614379
Hepatocellular Carcinoma
Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma OMIM:114550
Vici Syndrome
Decreased circulating IgG level, Cutaneous anergy, Chronic mucocutaneous candidiasis, Failure to ... OMIM:242840
Xeroderma Pigmentosum, Complementation Group F
Short stature, Defective DNA repair after ultraviolet radiation damage, Deficient excision of UV-... OMIM:278760
Subependymoma
Vomiting, Ependymoma, Neoplasm of the liver, Supratentorial neoplasm, Spinal cord tumor, Ovarian ... ORPHA:251639
Ependymoma
Vomiting, Ependymoma, Neoplasm of the liver, Supratentorial neoplasm, Spinal cord tumor, Ovarian ... ORPHA:251636
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Decreased circulating antibody level, Cleft palate ORPHA:85317
Melioidosis
Pneumonia, Brain abscess, Cutaneous abscess, Foot osteomyelitis, Hepatitis, Parotitis, Abnormalit... ORPHA:31202
Aregenerative Anemia
Bone marrow hypocellularity, Abnormal circulating interleukin concentration, Pancytopenia, Decrea... ORPHA:101096
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, Abnormal natural killer cell morphology, B lymphocytopenia OMIM:615966
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Xerostomia, Abnormal salivary gland morphology, Increased circulating I... ORPHA:79078
Hennekam Syndrome
Erysipelas, Lymphopenia, Benign neoplasm of the central nervous system, Malabsorption, Splenomega... ORPHA:2136
Lissencephaly Syndrome, Norman-Roberts Type
Intrauterine growth retardation, Hypoplastic spleen, Dysphagia, Feeding difficulties ORPHA:89844
O'Sullivan-Mcleod Syndrome
Eosinophilia, Increased circulating antibody level ORPHA:99965
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Pancytopenia, Splenomegaly, Acute mye... ORPHA:86843
Medulloblastoma
Medulloblastoma OMIM:155255
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Increased circulating IgE lev... ORPHA:449432
Lysinuric Protein Intolerance
Abnormality of humoral immunity, Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Increased circul... ORPHA:470
Igg4-Related Kidney Disease
Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Increased circulating IgE level, ... ORPHA:449395
Say-Barber-Miller Syndrome
Decreased circulating IgG level, Eczematoid dermatitis, Hypogonadism, Panniculitis, Transient hyp... ORPHA:3132
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Malabsorption, Agammaglobulinemia, Aganglionic megacolon, Anemia, Abnormality of the... ORPHA:935
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Eczematoid dermatitis, Rhizomelic arm shortening, Lymphopenia, Leuko... ORPHA:508542
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Giant cell hepatitis, Elevated gamma-glutamyltransferase level, Elevat... OMIM:208085
Refractory Celiac Disease
Normocytic anemia, Protein-losing enteropathy, Inflammatory abnormality of the skin, Elevated cir... ORPHA:398063
Alveolar Echinococcosis
Vomiting, Biliary cirrhosis, Cutaneous abscess, Decreased liver function, Abnormal mesentery morp... ORPHA:284
Sweet Syndrome
Abnormal circulating interleukin concentration, Inflammation of the large intestine, Acne inversa... ORPHA:3243
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Midline brainstem cleft, Hypoplasia of the pons, Agenesis o... OMIM:617542
Fanconi Anemia
Aplasia/Hypoplasia of the uvula, Cryptorchidism, Weight loss, Anal atresia, High palate, Decrease... ORPHA:84
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Failure to thrive, Decreased circulating IgA level, Protruding t... OMIM:617062
Congenital Disorder Of Glycosylation, Type Iih
Failure to thrive in infancy, Elevated circulating aspartate aminotransferase concentration, Inte... OMIM:611182
Asthma, Short Stature, And Elevated Iga
Short stature, Increased circulating IgA level OMIM:208600
Trichohepatoenteric Syndrome 2
Diarrhea, Small for gestational age, Failure to thrive, Intrauterine growth retardation, Villous ... OMIM:614602
Immunodeficiency 87 And Autoimmunity
Elevated gamma-glutamyltransferase level, Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Hepa... OMIM:619573
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatic fibrosis, Hepatitis, Pancreatic hypoplasia, Cholestasis, Intrauterine growth retardation,... OMIM:610199
Platelet Disorder, Undefined
Impaired platelet aggregation, Hematological neoplasm, Thrombocytopenia, Neuroblastoma OMIM:173420
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Abnormal cytok... ORPHA:158048
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la... OMIM:301074
Ravine Syndrome
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem ORPHA:99852
Ring Chromosome 21 Syndrome
Azoospermia, Amenorrhea, Short stature, Infertility, Decreased circulating antibody level ORPHA:1445
Polymicrogyria Due To Tubb2B Mutation
Abnormal brainstem morphology, Hypoplasia of the pons, Lateral ventricle dilatation, Agenesis of ... ORPHA:300573
Trichohepatoenteric Syndrome 1