Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
B cell leukemia/lymphoma 6
Synonyms:
Bcl5

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 Bcl6 mutations

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

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

The table below shows human diseases associated to Bcl6 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Follicular Lymphoma
Splenomegaly, Pleural effusion, Meningitis, Lymphadenopathy, Abnormality of the peritoneum, Media... ORPHA:545

The table below shows human diseases predicted to be associated to Bcl6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... OMIM:618664
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 63
Oligospermia, Decreased testicular size, Male infertility, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Macrocephalic sperm head, Absent sperm f... OMIM:619177
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Partial Chromosome Y Deletion
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, Pn... OMIM:607271
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Nondisjunction
Decreased fertility OMIM:158250
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Pneumonia, Decrease... OMIM:607594
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Eosinophilia, Recurrent pneumonia, Recurrent abscess formation, Hepatosplenomegaly, Decreased pro... ORPHA:169160
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, T lymphocytopenia, Recurrent pneumonia, Pneumonia, Decreased cir... OMIM:300400
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Onychomycosis, Deep dermatophytosis, Meningitis, Chronic tinea infection, Lymp... OMIM:212050
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 22
Azoospermia, Infertility OMIM:617706
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Immunodeficiency 48
Pneumonia, Splenomegaly, Hepatomegaly, Eczematoid dermatitis, Panhypogammaglobulinemia, Recurrent... OMIM:269840
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Immunodeficiency 24
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Reduced proportio... OMIM:615897
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Agammaglobulinemia,... OMIM:613500
Spermatogenic Failure 35
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618153
Spermatogenic Failure 18
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617592
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... OMIM:613502
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Recurrent infections, Splenomegaly, Hepatomegaly, Lymphocytosis OMIM:606445
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Recurrent otitis media, Chronic decreased circulating total IgG,... OMIM:613493
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testicular size OMIM:619145
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Recurrent otitis media, Decreased proportion of CD4-positive helper T cells, Recurrent sinopulmon... OMIM:243700
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Cervical lymphadenopathy, Abnor... OMIM:618987
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Recurrent infections, Decreased specific antibody response to po... OMIM:616452
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgG level, Recurrent ... OMIM:613494
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Immunodeficiency 14A, Autosomal Dominant
T lymphocytopenia, Recurrent ear infections, Increased circulating IgM level, Decreased specific ... OMIM:615513
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Increased circulating IgM level, Recurrent bacterial infections,... OMIM:608106
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial... OMIM:240500
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent upper respiratory tract infect... OMIM:618944
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Autoimmune hemolyt... ORPHA:331206
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Recurrent bacterial infections, Decreased circulating IgA level,... OMIM:605258
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Agammaglobulinemia, Recurrent bacterial infections, Recurrent bronchitis,... OMIM:613501
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Recurrent infections, Recurrent skin infections, Growth delay, Decreased circulating antibody lev... OMIM:617744
Lymphoproliferative Syndrome, X-Linked, 2
Pancytopenia, Recurrent infections, Recurrent skin infections, Erythema nodosum, Hemophagocytosis... OMIM:300635
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Spermatogenic Failure 4
Azoospermia OMIM:270960
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating total IgM, Decreased circulating IgG level, Transient neutropenia, Agammagl... OMIM:619707
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center, Decreased circulating IgG level, Abnormality of the liver OMIM:235550
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia, Decreased circulating antibody level OMIM:615206
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent oral herpes, Recurrent otitis media, Increased circulating IgG level, Persistent CMV vi... OMIM:619220
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Crohn's disease, Recurrent upper respiratory tract infections, D... OMIM:616100
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Recurrent otitis media, Persistent CMV viremia, Recurrent viral infe... OMIM:300853
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Chronic hepatitis, Hepatitis, Thrombocytopenia, Sclerosing chola... OMIM:308230
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells... ORPHA:169154
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Abse... OMIM:606843
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Endometriosis, Susceptibility To, 1
Endometriosis, Decreased fertility, Dysmenorrhea OMIM:131200
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Lymphocytosis, Skin rash, Chronic mucocutaneous candidiasis, Abnorma... ORPHA:911
Immunodeficiency 52
Recurrent pneumonia, Recurrent infections, Persistent CMV viremia, Coombs-positive hemolytic anem... OMIM:617514
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Decreased basophil count, Crohn's disease, Decreased proportion of memory B cells, ... OMIM:618394
Selective Igm Deficiency
Raynaud phenomenon, Decreased proportion of CD3-positive T cells, Severe infection, Hashimoto thy... ORPHA:331235
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Autoimmune t... OMIM:608184
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Decreased lymphocyte apoptosis, Increased circulating IgG level, Increased circulat... OMIM:601859
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgG level, Leukocytos... OMIM:619281
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Recurrent pneumonia, Increased circulating IgG level, Complete o... OMIM:610163
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia, Recurrent bronchopulmonary infections, Short stature, Decreased circulating total IgM OMIM:610798
Immunodeficiency 18
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Recurrent respiratory infec... OMIM:615615
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Isochromosomy Yp
Azoospermia, Ambiguous genitalia, Male infertility, Decreased testicular size ORPHA:98797
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Lymphoid System Deterioration, Progressive
Decreased circulating total IgM, Lymphopenia, Abnormal T cell morphology, Decreased circulating I... OMIM:247630
Immunodeficiency 50
Decreased circulating antibody level, Neutropenia, Recurrent respiratory infections, Eczema, Recu... OMIM:300988
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Immunodeficiency 104
T lymphocytopenia, Pneumonia, Splenomegaly, Hepatomegaly, Recurrent opportunistic infections, Ecz... OMIM:608971
Roifman Syndrome
Eosinophilia, Recurrent pneumonia, Recurrent otitis media, Hepatosplenomegaly, Intrauterine growt... ORPHA:353298
Immunodeficiency 64
Decreased circulating IgG level, Recurrent infections, Hepatosplenomegaly, Increased circulating ... OMIM:618534
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Decreased circulating IgG level, Recurrent otitis media, Uveitis, Chronic neutropen... OMIM:614700
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Recurrent otitis media, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, R... ORPHA:444463
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Recurrent pneumonia, Recurrent Staphylococcus aureus infections, Cutaneous abscess,... OMIM:147060
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Aplasia of the thymus, Lymphopenia, Recurrent pneumonia, Reduced red... OMIM:102700
Immunodeficiency 61
Recurrent otitis media, Agammaglobulinemia, Recurrent bacterial infections, Frequent Giardia lamb... OMIM:300310
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgG level, Viral hepatitis, Recurrent otitis media, Cholangitis, Severe inf... ORPHA:183675
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia, Recurrent bacterial infections, Recurrent can... OMIM:242870
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Coiled sperm flagella, Reduce... OMIM:617959
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Recurrent otitis media, Agammaglobulinemia, Prostatitis, Anemia,... OMIM:300755
Immunodeficiency 72 With Autoinflammation
Recurrent otitis media, Recurrent infections, Hepatosplenomegaly, Increased circulating IgG level... OMIM:618982
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Increased circul... OMIM:618495
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Abnormal immunoglo... ORPHA:276
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Iron deficiency anemia, Malar rash, Ele... OMIM:603909
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Decreased circulating IgG level, Hepatic failure, Aplastic anemia, Lymphocytosis, T... OMIM:308240
Peripartum Cardiomyopathy
Left ventricular systolic dysfunction, Sinus tachycardia, Crackles, Left bundle branch block, Ane... ORPHA:563
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Recurrent bacterial infect... OMIM:202700
Omenn Syndrome
Eosinophilia, Pneumonia, Recurrent viral infections, Recurrent bacterial infections, Splenomegaly... OMIM:603554
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy, Increa... ORPHA:482
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper T cells, R... ORPHA:572
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent Staphylococcus aureus infections, Recurrent otit... OMIM:613953
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Recurrent upper respiratory tract infections, Recurrent viral infections, Cholan... OMIM:209920
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradycardia, Myocardial fibrosis OMIM:617222
Immunodeficiency 70
Decreased circulating total IgM, Colitis, Decreased circulating total IgG, Decreased proportion o... OMIM:618969
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia, Recurrent otitis media, Bronchiectasis, Eczema, Recurrent respiratory infections, K... OMIM:618523
Immunodeficiency, Common Variable, 7
Recurrent infections, Decreased specific pneumococcal antibody level, Decreased circulating total... OMIM:614699
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, T lymphocytopenia, Decreased proportion of memory B cells, Decre... OMIM:619510
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicocele, Azoospermia, ... ORPHA:98798
Thymic Aplasia
Severe infection, Invasive fungal infection, Atypical or prolonged hepatitis, Recurrent urinary t... ORPHA:83471
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased circulating IgG level, Defective B cell differentiatio... OMIM:617765
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia, Agammaglobulinemia OMIM:200900
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgG level, Recurrent pneumonia, Recurrent upper respiratory tract infection... OMIM:619752
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Lymphoproliferative Syndrome 3
Recurrent infections, Hepatosplenomegaly, Severe varicella zoster infection, Decreased circulatin... OMIM:618261
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Obstructive azoospermia, Decr... ORPHA:399805
Cirrhosis, Familial
Cirrhosis, Increased circulating antibody level, Hepatitis, Chronic active hepatitis OMIM:118900
Immunodeficiency 36
Recurrent bacterial infections, Splenomegaly, Decreased circulating antibody level, Growth delay,... OMIM:616005
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, T lymphocytopenia, Recurrent pneumonia, Hepatosplenomegaly, Part... ORPHA:35078
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent bacteria... OMIM:193670
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, T lymphocytopenia, Recurrent otitis media, Recurrent pneumonia, Recurrent upper respir... ORPHA:277
Combined Immunodeficiency, X-Linked
Sinusitis, Decreased circulating IgG level, Pneumonia, Decreased proportion of CD4-positive helpe... OMIM:312863
Immune Deficiency Disease
Decreased circulating total IgM, Recurrent viral infections, Cholangitis, Recurrent bacterial inf... OMIM:242850
Lymphoproliferative Syndrome 2
Pancytopenia, Recurrent pneumonia, Recurrent infections, Hepatosplenomegaly, Uveitis, Hemophagocy... OMIM:615122
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells... ORPHA:443811
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Purulent rhinitis, Pneumonia, Recurrent opportunistic infections, Conjunctivit... OMIM:601457
Aspergillosis
Hepatitis, Keratitis, Intracranial hemorrhage, Hypersensitivity pneumonitis, Invasive pulmonary a... ORPHA:1163
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia, Recurrent otitis media, Recurrent infections, Recurrent skin infections, Bronchiect... OMIM:618282
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased serum complement C4, Recurrent otitis media, Autoimmune hemolytic anemia, Membranous ne... OMIM:615559
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Hepatosplenomegaly, Reduced delayed hypersensitivity, Hemophagocy... OMIM:607624
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent bacterial infections, Abnormality of T cell physiology,... OMIM:308220
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Crohn's disease, Decreased circulating total IgM, Agammaglobulin... OMIM:619705
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Sinusitis, Decreased proportion of memory B cells, Decreased specific antibody response to protei... ORPHA:70593
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia, Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia OMIM:615214
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent bacterial infections, Neutropenia, Recurrent respiratory infect... OMIM:616022
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Hepatosplenomegaly, Hemophagocytosis, Colitis, Abno... OMIM:613101
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Severe infection, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Gl... OMIM:304790
Cystic Echinococcosis
Abnormality of the testis size, Unusual infection, Elevated gamma-glutamyltransferase level, Pulm... ORPHA:400
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Pneumonia, Thrombocytosis, Increased circulating... OMIM:209950
Autosomal Agammaglobulinemia
Sinusitis, Recurrent infections, Recurrent skin infections, Arthritis, Agammaglobulinemia, Cough,... ORPHA:33110
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Intrauterine growth retardation... ORPHA:2643
X-Linked Agammaglobulinemia
Sinusitis, Recurrent pneumonia, Recurrent cutaneous abscess formation, Arthritis, Agammaglobuline... ORPHA:47
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
X-Linked Lymphoproliferative Disease
Pancytopenia, Decreased circulating IgG level, Hepatic failure, Histiocytosis, Absent natural kil... ORPHA:2442
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Immunodeficiency 11B With Atopic Dermatitis
Asthma, Eosinophilia, Atopic dermatitis, Pneumonia OMIM:617638
Immune-Mediated Necrotizing Myopathy
Myositis, Congestive heart failure, Skeletal muscle atrophy, Proximal muscle weakness in lower li... ORPHA:206569
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Recurrent infections, Pneumonia, Chronic bronchitis, Growth delay, Decreased circulating antibody... OMIM:614069
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Splenomegaly, Cutaneous anergy, Decreased helper T cell proportion, Hypersplenism OMIM:183350
Immunodeficiency, Common Variable, 10
Recurrent oral herpes, Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumon... OMIM:615577
Roifman Syndrome
Eosinophilia, Recurrent otitis media, Recurrent pneumonia, Intrauterine growth retardation, Splen... OMIM:616651
Adult-Onset Still Disease
Restrictive ventilatory defect, Leukocytosis, Bone marrow hypocellularity, Neutrophilia, Generali... ORPHA:829
Immunodeficiency 56
Recurrent otitis media, Recurrent pneumonia, Recurrent infections, Hepatic failure, Cholangitis, ... OMIM:615207
Immunodeficiency 7
Recurrent infections, Hypereosinophilia, Lymphadenopathy OMIM:615387
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Decreased circulating IgG level, Recurrent otitis media, Abnormally low T cell rece... OMIM:618986
Systemic Capillary Leak Syndrome
Pericarditis, Leukocytosis, Arrhythmia, Myocarditis, Cough, Rhinorrhea, Pleural effusion, Hypoten... ORPHA:188
Immunodeficiency 84
Recurrent bacterial infections, Splenomegaly, Persistent EBV viremia, B lymphocytopenia, Perianal... OMIM:619437
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, B lymphocytopenia, Recurrent infections, Agammaglobulinemia OMIM:616941
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly, Hepatomegaly, Restrictive cardiomyopathy OMIM:607685
Rheumatic Fever
Sinusitis, Abnormal heart valve morphology, Arrhythmia, Abnormal mitral valve morphology, Endocar... ORPHA:3099
Autoinflammation With Arthritis And Dyskeratosis
Punctate keratitis, Hypereosinophilia, Uveitis, Increased circulating IgG level, Increased circul... OMIM:617388
Transcobalamin Deficiency
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circula... ORPHA:859
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly, Recurrent viral infections, Eosinophilic liver infiltration, As... OMIM:618999
Cinca Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Uveitis, Growth delay, Meningitis, Anemia, Lympha... OMIM:607115
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Recurrent otitis media, Pneumonia, Delayed puberty, Infectious encephalitis, Recurrent... OMIM:307200
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Recurrent infections, Decreased circulating antibody level, Agammaglobulinemia OMIM:616911
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Intrauterine growth retardation... OMIM:251190
Cernunnos-Xlf Deficiency
T lymphocytopenia, Recurrent viral infections, Recurrent bacterial infections, Thrombocytopenia, ... ORPHA:169079
American Trypanosomiasis
Arrhythmia, Congestive heart failure, Infectious encephalitis, Splenomegaly, Hepatomegaly, Cough,... ORPHA:3386
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Pneumonia, Recurrent viral infections, Asthma, Onychomycosis, Recurrent sinusi... ORPHA:217390
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Recurrent viral in... ORPHA:275
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Cardiac arrest, Infectious encephalitis, Interstitial pneumonitis, Myocarditis, Cou... ORPHA:139402
Mannose-Binding Lectin Deficiency
Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent meningococcal diseas... OMIM:614372
Legionnaires Disease
Restrictive ventilatory defect, Bone marrow hypocellularity, Arrhythmia, Infectious encephalitis,... ORPHA:549
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Recurrent upper respiratory tract infections, Pneumonia, Recurrent viral infections, A... OMIM:613179
Immunodeficiency 23
Lymphopenia, Chronic mucocutaneous candidiasis, Molluscum contagiosum, Eczema, Hemolytic anemia, ... OMIM:615816
Halothane Hepatitis
Eosinophilia, Viral hepatitis, Hepatitis, Jaundice OMIM:234350
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased circulating total IgM, Decreased circulating IgG level, Abnormality of the thymus, Decr... OMIM:611926
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Autoimmune hemolytic anemia, Glomerulonephritis, Increased circulating antibody level,... OMIM:247800
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Precocious puberty, Macroorchidism, Male infertility ORPHA:3000
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Vasculitis in the skin, Abnormal circulating interleukin concentration, Lymphadenitis, Pneumonia,... ORPHA:319552
Tularemia
Anemia, Otitis media, Thrombocytopenia, Conjunctivitis, Skin rash, Cervical lymphadenopathy, Coug... ORPHA:3392
Q Fever
Maculopapular exanthema, Anemia, Hepatitis, Thrombocytopenia, Abnormal pulmonary interstitial mor... ORPHA:781
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Increased circulating IgG level, Pleural thickening, Decreased eosinophil count,... OMIM:619632
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Increased circulating antibody level, Neutropenia, Anemia... OMIM:615285
Immunodeficiency, Common Variable, 6
Enlarged kidney, Chronic decreased circulating total IgG, Complete or near-complete absence of sp... OMIM:613496
Loeffler Endocarditis
T-wave inversion, Abnormal cardiomyocyte morphology, Right bundle branch block, Endocardial fibro... ORPHA:75566
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal sperm morphology, Non-obstructive azoospermia, Abnormal ... ORPHA:399808
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Recurrent upper respiratory tract infections, Pneumonia, Absent tonsils, Panhypogammaglobulinemia... OMIM:602450
Scrub Typhus
Restrictive ventilatory defect, Infectious encephalitis, Splenomegaly, Cough, Myocarditis, Dyspne... ORPHA:83317
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Decreased specific anti-polysaccharide antibody level, Decreased CD4... OMIM:606367
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent pneumonia, Asthma, Meningitis, Recurrent sinusitis, Chronic act... OMIM:614379
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy, Recurrent mycobacterial infections OMIM:616126
Idiopathic Chronic Eosinophilic Pneumonia
Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Hypereosinophi... ORPHA:2902
Immunodeficiency 88
Asthma, Eosinophilia, BCGosis OMIM:619630
Immunodeficiency 32B
Sinusitis, Recurrent infections, Pneumonia, Splenomegaly, Bronchiectasis, Recurrent respiratory i... OMIM:226990
Candidiasis, Familial, 1
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
Immunodeficiency 75
Hepatosplenomegaly, Bronchiectasis, Recurrent respiratory infections, Follicular hyperplasia, Per... OMIM:619126
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Leukemia, Recurrent skin infections, Pneumonia, Recurrent viral infect... ORPHA:486
Eosinophilic Granulomatosis With Polyangiitis
Abnormal pericardium morphology, Hypertension, Skin rash, Congestive heart failure, Increased inf... ORPHA:183
Immunodeficiency 92
Recurrent oral herpes, Decreased circulating IgG level, Sclerosing cholangitis, Leukocytosis, Pne... OMIM:619652
Immunodeficiency 33
Decreased circulating total IgM, Recurrent bacterial infections, Increased circulating IgA level,... OMIM:300636
Complement Component C1S Deficiency
Hashimoto thyroiditis, Abnormality of complement system, Hepatitis OMIM:613783
Spermatogenic Failure 6
Decreased acrosin in sperm head, Male infertility, Globozoospermia OMIM:102530
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Recurrent infections, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomeg... OMIM:614470
Combined Cellular And Humoral Immune Defects With Granulomas
Decreased circulating IgG level, T lymphocytopenia, B lymphocytopenia OMIM:233650
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent pneumonia, Recurrent infections, Recurrent skin infections, Autoimmune hemolytic anemia... OMIM:616576
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Recurrent infections, Bronchiolitis, Interstitial pneumonitis, D... OMIM:614878
Griscelli Syndrome
Leukopenia, Bone marrow hypocellularity, Splenomegaly, Hepatomegaly, Jaundice, Decreased circulat... ORPHA:381
Autoimmune Lymphoproliferative Syndrome
Decreased circulating IgG level, Uveitis, Autoimmune hemolytic anemia, Decreased proportion of CD... ORPHA:3261
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Crohn's disease, Growth delay, Inflammation of the large intesti... OMIM:615767
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Bone Marrow Failure Syndrome 4
Leukopenia, Bone marrow hypocellularity, Rhizomelia, Decreased circulating antibody level, Eczema... OMIM:618116
Juvenile Temporal Arteritis
Eosinophilia, Allergic rhinitis, Leukocytosis, Conjunctivitis ORPHA:26137
Mixed Connective Tissue Disease
Myositis, Leukopenia, Gastrointestinal hemorrhage, Gastritis, Splenomegaly, Hepatomegaly, Myocard... ORPHA:809
Whipple Disease
Myositis, Uveitis, Gastrointestinal hemorrhage, Infectious encephalitis, Splenomegaly, Hepatomega... ORPHA:3452
Immunoglobulin M, Level Of
Decreased circulating total IgM, Meningitis OMIM:308250
Immunodeficiency 46
Intermittent thrombocytopenia, Decreased circulating antibody level, Meningitis, Neutropenia, Ane... OMIM:616740
Specific Granule Deficiency 1
Increased neutrophil ribosomes, Increased neutrophil mitochondria, Recurrent bacterial infections... OMIM:245480
Felty Syndrome
Episcleritis, Anemia, Recurrent urinary tract infections, Thrombocytopenia, Recurrent pneumonia, ... ORPHA:47612
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Recurrent otitis media, Pneumonia, Recurrent upper respiratory tract infection... OMIM:600802
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Otitis media, Decreased specific anti-polysaccharide antibody level, Thro... OMIM:600903
Schnitzler Syndrome
Leukocytosis, Increased circulating IgM level, Splenomegaly, Hepatomegaly, Anemia, Vasculitis, Ly... ORPHA:37748
Reticular Dysgenesis
Leukopenia, Decreased circulating antibody level, Abnormality of neutrophils, Anemia, Recurrent r... ORPHA:33355
Immunodeficiency 47
Exocrine pancreatic insufficiency, Cholestasis, Accessory spleen, Decreased circulating total IgG... OMIM:300972
Netherton Syndrome
Decreased circulating IgG level, Recurrent infections, Hypereosinophilia, Asthma, Erythroderma, A... OMIM:256500
Adult Idiopathic Neutropenia
Recurrent infections, Monocytosis, Helicobacter pylori infection, Increased circulating IgM level... ORPHA:2688
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Increased circulating lactate dehydrogenase co... ORPHA:158061
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia, Arthritis, Abnormal pleura morphology ORPHA:2582
Autoimmune Hepatitis
Spider hemangioma, Viral hepatitis, Sclerosing cholangitis, Cirrhosis, Increased circulating IgG ... ORPHA:2137
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Increased circulating IgM level, Decreased proport... OMIM:617241
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Hypoplastic anemia, Spl... ORPHA:2585
Omenn Syndrome
Abnormal lymphocyte morphology, Eosinophilia, Leukocytosis, Pneumonia, Splenomegaly, Hepatomegaly... ORPHA:39041
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Rectal abscess, D... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Rectal abscess, D... OMIM:233710
Reticular Dysgenesis
Leukopenia, Lack of T cell function, Congenital agranulocytosis, Impaired T cell function, Sepsis... OMIM:267500
Odontomatosis-Aortae Esophagus Stenosis Syndrome
Myocarditis ORPHA:2724
Generalized Eruptive Histiocytosis
Hypereosinophilia, Leukemia, Histiocytosis, Elevated total serum tryptase, Maculopapular exanthema ORPHA:157991
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Recurrent bronchitis, Anemia, Thrombocytopenia OMIM:131400
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Megaloblastic anemia, Decreased circulating antibody level, Cheilitis... ORPHA:90045
Immunodeficiency 35
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent fungal infections, Recu... OMIM:611521
Wiskott-Aldrich Syndrome
Recurrent otitis media, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper ... OMIM:301000
Antisynthetase Syndrome
Myositis, Aortic regurgitation, Myocarditis, Cough, Pulmonary arterial hypertension, Keratoconjun... ORPHA:81
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Decreased circulating antibody level, Inflammation of the large intestine, Bro... OMIM:618108
Riddle Syndrome
Decreased circulating IgG level, Otitis media, Intraventricular hemorrhage, Bronchitis, Abnormal ... ORPHA:420741
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Splenomegaly, Hepatomegaly, Growth delay, Anemia, Lymphadenopathy, Ascites,... ORPHA:100025
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Morbid Obesity And Spermatogenic Failure
Azoospermia, Oligospermia, Infertility OMIM:615703
Immunodeficiency 37
Recurrent infections, Colitis, Infectious encephalitis, Decreased circulating antibody level, Dec... OMIM:616098
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukopenia, Leukocytosis, Cholestasis, Infectious encephalitis, M... ORPHA:292
Cyclic Neutropenia
Sinusitis, Recurrent skin infections, Decreased eosinophil count, Severe infection, Peritonitis, ... ORPHA:2686
Rat-Bite Fever
Pericarditis, Lymphadenitis, Erythema nodosum, Arthritis, Parotitis, Maculopapular exanthema, End... ORPHA:31205
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Brucellosis
Sacroiliac arthritis, Abnormal aortic valve morphology, Arteritis, Anemia, Epididymitis, Liver ab... ORPHA:1304
Melioidosis
Pneumonia, Unusual skin infection, Brain abscess, Parotitis, Cutaneous abscess, Lung abscess, Pro... ORPHA:31202
Bloom Syndrome
Decreased circulating IgG level, Uveitis, Recurrent tonsillitis, Recurrent urinary tract infectio... ORPHA:125
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Rectal abscess, D... OMIM:233690
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Rectal abscess, Agammaglobulinemia, Recurrent bacter... OMIM:601495
Myelolymphatic Insufficiency
Recurrent bacterial infections, Leukopenia, Recurrent viral infections, Hyposegmentation of neutr... OMIM:310350
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Recurrent abscess formation, Anemia, Ascites, Thrombocytopenia, Chronic mucocutaneo... ORPHA:79124
Complement Component 6 Deficiency
Recurrent meningococcal disease, Decreased serum complement C6, Reduced hemolytic complement acti... OMIM:612446
Isolated Agammaglobulinemia
Abnormal lymphocyte morphology, Sinusitis, Recurrent cutaneous abscess formation, Pneumonia, Infl... ORPHA:229717
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections, Decreased serum complement C7 OMIM:610102
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Exocrine pancreatic insufficiency, Recurrent upper respiratory tract infections, Hepatosplenomega... OMIM:615952
Igg4-Related Aortitis
Hypereosinophilia, Asthma, Increased circulating IgG4 level, Increased inflammatory response, Inc... ORPHA:449400
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Angulated muscle fibers, Weakness of facial musculature, Aspiration pneumonia, Scapular winging, ... OMIM:619477
Lymphoproliferative Syndrome 1
Pancytopenia, Decreased circulating IgG level, Recurrent infections, Leukopenia, Autoimmune hemol... OMIM:613011
Congenital Disorder Of Glycosylation, Type Iir
Hepatic steatosis, Recurrent infections, Decreased liver function, Hepatomegaly, Jaundice, Decrea... OMIM:301045
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia, Recurrent staphylococcal infections, Recurrent bacterial infections, Recurrent strep... ORPHA:70592
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Decreased nasal nitric oxide, Cough, Rhinorrhea, Bronchiectasis, Dextroca... OMIM:618254
Ciliary Dyskinesia, Primary, 9
Recurrent otitis media, Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Cough, Situs i... OMIM:612444
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Tachypnea, Hepatitis, Fasciitis, Thrombocytopenia, Skin ra... ORPHA:36234
Cyanosis And Hepatic Disease
Hepatitis, Abnormal abdomen morphology, Dyspnea OMIM:219400
Bloom Syndrome
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent upper respiratory tra... OMIM:210900
Common Variable Immunodeficiency
Emphysema, Abnormality of the liver, Pneumonia, Restrictive ventilatory defect, Autoimmune thromb... ORPHA:1572
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Leukemia, Impaired lymphocy... OMIM:153600
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Recurrent infections, Decreased circulating antibody level, Erythroderma, Dispropor... OMIM:617425
Primary Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Decreased circulating IgG level, Decreased circulating total IgM, De... ORPHA:90362
Immunodeficiency 55
Recurrent infections, Recurrent skin infections, Intrauterine growth retardation, Neutropenia, Ec... OMIM:617827
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Membranous nephropathy, Hepatitis, Inflammat... ORPHA:37042
Coccidioidomycosis
Invasive fungal infection, Pleural empyema, Pancreatitis, Coccidioidal meningitis, Skin rash, Vas... ORPHA:228123
Igg4-Related Kidney Disease
Decreased serum complement C4, Abnormality of the anterior pituitary, Prostatitis, Arteritis, Mem... ORPHA:449395
Alveolar Echinococcosis
Eosinophilia, Biliary cirrhosis, Portal hypertension, Pancreatic cysts, Cholangitis, Cutaneous ab... ORPHA:284
Leukocyte Adhesion Deficiency, Type Iii
Leukocytosis, Hepatosplenomegaly, Recurrent skin infections, Recurrent bacterial infections, Sple... OMIM:612840
Isolated Follicle Stimulating Hormone Deficiency
Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenorrhea, Female hypogonadism... ORPHA:52901
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia, Recurrent infections, Cough, Eczema, Osteomyelitis, Recurrent respiratory infection... ORPHA:2314
Cd8 Deficiency, Familial
Recurrent viral infections, Recurrent bacterial infections, Bronchiectasis, Recurrent respiratory... OMIM:608957
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Microsporidiosis
Cholangitis, Decreased proportion of CD4-positive helper T cells, Prostatitis, Hepatitis, Pancrea... ORPHA:2552
Agammaglobulinemia 5, Autosomal Dominant
Agammaglobulinemia OMIM:613506
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Recurrent pneumonia, Recurrent infections, Thrombocytosis, Megaloblastic anemia, Se... OMIM:617780
Immunodeficiency, Common Variable, 13
Pancytopenia, Recurrent bacterial infections, Decreased circulating antibody level, B lymphocytop... OMIM:616873
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Increased circulating antibody level, Anemia, Abnormal B cell count, ... ORPHA:100024
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Recurrent pneumonia, Hepatosplenomegaly, Reduced delayed hypersensitivity, Bronchiecta... OMIM:242700
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Leukocytosis, Intrauterine growth retardation, Agammaglobulinemia, Interface hepati... OMIM:243150
Scleroderma
Interstitial cardiac fibrosis, Uveitis, Episcleritis, Gastrointestinal telangiectasia, Fasciitis,... ORPHA:801
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Reduced natural killer cell activity, Thrombocytopenia, Decreased... OMIM:614493
Good Syndrome
Sinusitis, Recurrent skin infections, Decreased circulating antibody level, Cough, Bronchiectasis... ORPHA:169105
Immunodeficiency 76
T lymphocytopenia, Recurrent pneumonia, Colitis, Splenomegaly, Growth delay, B lymphocytopenia, L... OMIM:619164
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating total IgG, Decreased proportion of CD4-positive helper T cells, Recurrent u... ORPHA:221139
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infections, Neutrope... OMIM:614868
Granulomatous Disease, Chronic, X-Linked
Ascites, Liver abscess, Recurrent pneumonia, Rectal abscess, Recurrent E. coli infections, Cough,... OMIM:306400
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Testicular atrophy OMIM:613909
Osteopetrosis, Autosomal Recessive 7
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Splenomega... OMIM:612301
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections, Eczematoid dermatitis, Seborrheic dermatitis,... OMIM:619693
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Proteasome-Associated Autoinflammatory Syndrome 2
Recurrent infections, Increased circulating antibody level, Lymphadenopathy, Thrombocytopenia, Sk... OMIM:618048
Complement Factor D Deficiency
Recurrent bacterial infections, Complement deficiency OMIM:613912
Complement Component 8 Deficiency, Type Ii
Decreased serum complement C8, Recurrent Neisserial infections, Meningitis OMIM:613789
Immunodeficiency 82 With Systemic Inflammation
Recurrent abscess formation, Recurrent otitis media, Decreased circulating total IgG, Anemia, Hep... OMIM:619381
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent bacterial in... ORPHA:169090
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Dyspnea, Anemia, Thrombocytopenia ORPHA:517
Whim Syndrome
Sinusitis, Recurrent pneumonia, Recurrent upper respiratory tract infections, Lymphadenitis, Pneu... ORPHA:51636
Iga Pemphigus
Eosinophilia, Neutrophilic infiltration of the skin, Cutaneous abscess, Increased circulating IgA... ORPHA:555905
Shigellosis
Hypovolemic shock, Rhabdomyolysis, Leukocytosis, Uveitis, Cholestasis, Failure to thrive in infan... ORPHA:810
Catastrophic Antiphospholipid Syndrome
Abnormal heart valve morphology, Coombs-positive hemolytic anemia, Pulmonary embolism, Myocarditi... ORPHA:464343
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating total IgM OMIM:300861
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Decreased serum complement factor B, Meni... OMIM:615561
Igg4-Related Submandibular Gland Disease
Eosinophilia, Abnormal salivary gland morphology, Increased circulating IgG level, Cholangitis, E... ORPHA:449432
Thymic Tumor
Cardiac arrest, Dysgammaglobulinemia, Cough, Dyspnea, Neoplasm of the thymus, Pericarditis, Media... ORPHA:100100
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Ichthyosis-Prematurity Syndrome
Neonatal respiratory distress, Eosinophilia ORPHA:88621
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Restrictive ventilatory defect, Flexion contracture, Pneumonia, Ske... OMIM:253700
Sneddon Syndrome
Decreased circulating total IgM, Hypertension, Cerebral hemorrhage, Lymphopenia, Ischemic stroke OMIM:182410
Pneumocystosis
Nonproductive cough, Increased circulating lactate dehydrogenase concentration, Respiratory failu... ORPHA:723
Trimethylaminuria
Recurrent pneumonia, Splenomegaly, Neutropenia, Anemia, Hypertension, Tachycardia OMIM:602079
Bile Acid Synthesis Defect, Congenital, 3
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Hepatitis, Eleva... OMIM:613812
Macrocephaly/Autism Syndrome
Recurrent infections, Splenomegaly, Decreased circulating antibody level, Hepatomegaly, Lymphopenia OMIM:605309
Ciliary Dyskinesia, Primary, 23
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Recurrent p... OMIM:615451
Immunodeficiency 27B
Recurrent mycobacterial infections, Generalized lymphadenopathy, Recurrent mycobacterium avium co... OMIM:615978
Aicardi-Goutieres Syndrome 7
Intrauterine growth retardation, Splenomegaly, Hepatomegaly, Increased circulating antibody level... OMIM:615846
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Elevated total seru... ORPHA:98849
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Recurrent otitis media, Pneumonia, Bronchiolitis, Periodontitis... OMIM:266265
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Pancytopenia, Portal hypertension, Reduced forced expiratory volume in one second, Hashimoto thyr... OMIM:613385
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Ciliary Dyskinesia, Primary, 7
Recurrent otitis media, Restrictive ventilatory defect, Reduced FEV1/FVC ratio, Recurrent pneumon... OMIM:611884
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Recurrent upper respiratory tract infections, Pneumonia, Abnormally low T cell... OMIM:618806
Postinfectious Vasculitis
Viral hepatitis, Gastrointestinal inflammation, Severe cytomegalovirus infection, Invasive fungal... ORPHA:48435
Igg4-Related Pachymeningitis
Eosinophilia, Sinusitis, Lymphadenitis, Parotitis, Increased circulating IgG4 level, Dyspnea, Nep... ORPHA:449427
Familial Hemophagocytic Lymphohistiocytosis
Abnormality of tumor necrosis factor secretion, Maculopapular exanthema, Anemia, Increased serum ... ORPHA:540
Graft Versus Host Disease
Recurrent infections, Myositis, Hepatosplenomegaly, Pneumonia, Gastrointestinal inflammation, Hem... ORPHA:39812
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Ulcerative colitis, Lymphopenia, Recurrent pneumonia, Eczema, Granuloma, S... OMIM:618935
Relapsing Polychondritis
Abnormal endocardium morphology, Chondritis of pinna, Uveitis, Arthritis, Inflammatory abnormalit... ORPHA:728
Immunodeficiency 15A
Decreased proportion of memory B cells, Decreased proportion of CD4-positive helper T cells, Decr... OMIM:618204
Boutonneuse Fever
Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Maculopapular exant... ORPHA:83313
Ebola Hemorrhagic Fever
Acute pancreatitis, Leukopenia, Gastrointestinal hemorrhage, Maculopapular exanthema, Thrombocyto... ORPHA:319218
Immunodeficiency 58
Recurrent aphthous stomatitis, Esophagitis, Chronic mucocutaneous candidiasis, Recurrent pneumoni... OMIM:618131
Idiopathic Achalasia
Cough, Wheezing, Recurrent aspiration pneumonia, Weight loss, Bronchitis ORPHA:930
Hyperimmunoglobulin G1(A1) Syndrome
Increased circulating IgA level, Increased circulating IgG level OMIM:144120
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Increased CD4:CD8 ratio, Decreased specific pneumococcal antibody level, Colitis, Impaired lympho... OMIM:617006
Eosinophilic Fasciitis
Eosinophilia, Myositis, Abnormal eosinophil morphology, Fasciitis, Arthritis ORPHA:3165
Beta-Thalassemia
Microcytic anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatomegaly, Anemi... ORPHA:848
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Anemia, Lymphadenopathy ORPHA:158014
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Hypocomplementemic Urticarial Vasculitis
Emphysema, Restrictive ventilatory defect, Uveitis, Airway obstruction, Arthritis, Inflammatory a... ORPHA:36412
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia, Neonatal death OMIM:257100
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Recurrent infections, Decreased circulating IgA level, Recurren... OMIM:137100
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Recurrent infections, Eczema, Thyroiditis, Short stature, Postnatal growth retardation, Delayed p... OMIM:618985
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615504
Ciliary Dyskinesia, Primary, 20
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Recurrent p... OMIM:615067
Hepatocellular Carcinoma
Subacute progressive viral hepatitis, Micronodular cirrhosis, Hepatocellular carcinoma OMIM:114550
Listeriosis
Arteritis, Liver abscess, Conjunctivitis, Pyelonephritis, Congestive heart failure, Infectious en... ORPHA:533
Wilson Disease
Hepatic steatosis, Cirrhosis, Splenomegaly, Hepatomegaly, Jaundice, Acute hepatic failure, Anemia... ORPHA:905
Ataxia-Telangiectasia
Mucosal telangiectasiae, Polycystic ovaries, Decreased circulating antibody level, Telangiectasia... ORPHA:100
Rigid Spine Syndrome
Hamstring contractures, Pneumonia, Abnormality on pulmonary function testing, Skeletal muscle atr... ORPHA:97244
Eosinophilopenia
Allergic rhinitis, Decreased eosinophil count OMIM:131430
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Decreased nasal nitric oxide, Situs inversus totalis, Bronchiectasis, Cil... OMIM:608644
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Necroti... OMIM:613860
Idiopathic Bronchiectasis
Emphysema, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Crackles, Myocardial i... ORPHA:60033
Zygomycosis
Gastrointestinal hemorrhage, Hepatitis, Hematemesis, Pancreatitis, Fasciitis, Acute infectious pn... ORPHA:73263
Idiopathic Hypereosinophilic Syndrome
Cholangitis, Chronic hepatitis, Anemia, Portal fibrosis, Inflammatory abnormality of the skin, Pa... ORPHA:3260
Spastic Ataxia-Corneal Dystrophy Syndrome
Decreased circulating antibody level ORPHA:2572
Kawasaki Disease
Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary steno... ORPHA:2331
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Upper airway obstruction, Respiratory distress, Aspiration pneumonia, Weight loss ORPHA:141152
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Recurrent infections, Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia,... OMIM:150550
Dyskeratosis Congenita, Autosomal Recessive 5
Leukopenia, Intrauterine growth retardation, Bone marrow hypocellularity, Colitis, Decreased circ... OMIM:615190
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Simple Cryoglobulinemia
Monoclonal elevation of IgG, Viral hepatitis, Monoclonal immunoglobulin M proteinemia, Raynaud ph... ORPHA:91139
Cryoglobulinemic Vasculitis
Viral hepatitis, Abnormality of the liver, Gastrointestinal hemorrhage, Splenomegaly, Hepatomegal... ORPHA:91138
Scedosporiosis
Abnormal respiratory system physiology, Severe infection, Invasive fungal infection, Fungal menin... ORPHA:449280
Primary Biliary Cholangitis
Biliary cirrhosis, Hepatic failure, Portal hypertension, Orthostatic hypotension, Gastrointestina... ORPHA:186
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Asthma, Eosinophilia, Recurrent infections OMIM:618092
Autoimmune Polyendocrinopathy Type 4
Central diabetes insipidus, Biliary cirrhosis, Aplasia/Hypoplasia of the spleen, Leukopenia, Macr... ORPHA:227990
Young Syndrome
Azoospermia OMIM:279000
Immunodeficiency 12
Recurrent bacterial infections, Growth delay, Recurrent viral infections OMIM:615468
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Congestive heart failure, Sudden cardiac ... OMIM:601493
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Hepatitis, Inflammatory abnormality of the skin, Recurrent herpes, T... ORPHA:391487
Lymphatic Filariasis
Restrictive ventilatory defect, Hypereosinophilia, Lymphadenitis, Orchitis, Knee osteoarthritis, ... ORPHA:2035
Alpha-1-Antitrypsin Deficiency
Emphysema, Hepatic failure, Hepatomegaly, Jaundice, Hepatitis ORPHA:60
Lujo Hemorrhagic Fever
Nonproductive cough, Subconjunctival hemorrhage, Leukocytosis, Leukopenia, Shock, Crackles, Macul... ORPHA:319213
Ciliary Dyskinesia, Primary, 36, X-Linked
Cough, Situs inversus totalis, Bronchiectasis, Recurrent respiratory infections, Recurrent sinusi... OMIM:300991
Autoimmune Polyendocrinopathy Type 3
Central diabetes insipidus, Biliary cirrhosis, Aplasia/Hypoplasia of the spleen, Leukopenia, Macr... ORPHA:227982
Ciliary Dyskinesia, Primary, 25
Immotile cilia, Sinusitis, Dextrocardia, Situs inversus totalis, Bronchiectasis, Ciliary dyskines... OMIM:615482
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Primary amenorrhea, Azoospermia, Hypogonadism, Decreased testicular size OMIM:229070
Polymyositis
Dilated cardiomyopathy, Gastrointestinal hemorrhage, Arrhythmia, Arthritis, Congestive heart fail... ORPHA:732
Yao Syndrome
Arthritis, Asthma, Keratoconjunctivitis sicca, Inflammatory abnormality of the skin, Pericarditis... OMIM:617321
Vici Syndrome
Decreased T cell activation, Decreased circulating IgG level, Dilated cardiomyopathy, Recurrent v... OMIM:242840
Mogs-Cdg
Apnea, Decreased circulating IgG level, Decreased circulating total IgM, Hypoventilation, Hepatos... ORPHA:79330
Systemic Sclerosis
Interstitial cardiac fibrosis, Raynaud phenomenon, Recurrent skin infections, Flexion contracture... ORPHA:90291
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly, Skin rash OMIM:619175
Indolent Systemic Mastocytosis
Abnormal mast cell morphology, Mastocytosis, Elevated total serum tryptase, Maculopapular exanthe... ORPHA:98848
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia OMIM:615592
Sting-Associated Vasculopathy, Infantile-Onset
Raynaud phenomenon, Recurrent infections, Paratracheal lymphadenopathy, Leukopenia, Myositis, Inc... OMIM:615934
Encephalopathy Due To Prosaposin Deficiency
Recurrent respiratory infections, Splenomegaly, Hepatomegaly, Respiratory insufficiency ORPHA:139406
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Micropenis, Cryptorchidism, Azoospermia, Decreased testicular size OMIM:614897
Kikuchi-Fujimoto Disease
Vasculitis in the skin, Leukopenia, Splenomegaly, Cervical lymphadenopathy, Hepatomegaly, General... ORPHA:50918
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615505
Angiostrongyliasis
Hypereosinophilia, Increased circulating IgG level, Increased circulating IgM level, Increased ci... ORPHA:74
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Increased c... ORPHA:507
Immunodeficiency 54
Adrenocorticotropic hormone excess, Intrauterine growth retardation, Recurrent viral infections, ... OMIM:609981
Familial Dilated Cardiomyopathy
Left ventricular systolic dysfunction, Right ventricular dilatation, Reduced ejection fraction, A... ORPHA:217607
Niemann-Pick Disease, Type B
Splenomegaly, Hepatomegaly, Dyspnea, Anemia, Recurrent respiratory infections, Bone-marrow foam c... OMIM:607616
Igg4-Related Ophthalmic Disease
Eosinophilia, Sinusitis, Abnormality of the anterior pituitary, Cholangitis, Orchitis, Increased ... ORPHA:449563
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Nonproductive cough, Reduced FEV1/FVC ratio, Hypoxemia, Pneumonia, Airway obstruction, Reduced fo... ORPHA:1303
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Immunodeficiency 59 And Hypoglycemia
Recurrent upper respiratory tract infections, Recurrent skin infections, Acne inversa, Hepatomega... OMIM:233600
Hermansky-Pudlak Syndrome 2
Recurrent abscess formation, Recurrent otitis media, Recurrent pneumonia, Hepatosplenomegaly, Imp... OMIM:608233
Primary Sclerosing Cholangitis
Uveitis, Cholestasis, Neoplasm of the gallbladder, Hepatitis, Pancreatitis, Ascites, Ulcerative c... ORPHA:171
Neutropenia, Severe Congenital, X-Linked
Neutropenia, Recurrent bacterial infections OMIM:300299
Immunodeficiency 67
Transient neutropenia, Recurrent streptococcal infections, Recurrent staphylococcal infections, L... OMIM:607676
Eosinophilic Gastroenteritis
Eosinophilia, Hematochezia, Leukocytosis, Asthma, Anemia, Allergic rhinitis, Atopic dermatitis, A... ORPHA:2070
Dermatomyositis
Inflammatory myopathy, Sinus tachycardia, Arrhythmia, Arthritis, Myocarditis, Abnormal eosinophil... ORPHA:221
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Primary Sjögren Syndrome
Decreased serum complement C4, Biliary cirrhosis, Optic neuritis, Chronic hepatitis, Decreased pr... ORPHA:289390
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome
Crohn's disease, Myositis, Increased inflammatory response, Acne, Increased circulating antibody ... ORPHA:69126
Arterial Tortuosity Syndrome
Abnormal myocardium morphology, Dilated cardiomyopathy, Cardiac arrest, Congestive heart failure,... ORPHA:3342
Bone Marrow Failure Syndrome 5
Decreased circulating antibody level, Testicular atrophy, Anemia, Short stature, Pure red cell ap... OMIM:618165
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level, Elevated circulating follicle s... OMIM:602668
Avian Influenza
Increased circulating lactate dehydrogenase concentration, Hypoxemia, Tachypnea, Productive cough... ORPHA:454836
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Pleural effusion, Hepatomegaly, Lymphadenopathy, Pericarditis, Anterior uveitis, Sk... ORPHA:85414
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, T lymphocytopenia, Pneumonia, Chronic bronchitis, Increased circulating IgM level, Dec... OMIM:242860
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Interlobular bile duct destruction, Sclerosing cholangitis, Increased circulating IgG level, Chol... ORPHA:562639
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Myositis OMIM:253600
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Decreased serum complement C3, Recurrent bacterial infe... OMIM:613779
Proteasome-Associated Autoinflammatory Syndrome 3
Sinusitis, Recurrent infections, Myositis, Arthritis, Splenomegaly, Hepatomegaly, Thrombocytopeni... OMIM:617591
Prolidase Deficiency
Recurrent pneumonia, Recurrent infections, Asthma, Elevated circulating aspartate aminotransferas... OMIM:170100
Transcobalamin Ii Deficiency
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circula... OMIM:275350
Polyarteritis Nodosa
Cardiomyopathy, Hypertension, Pericarditis, Raynaud phenomenon, Abnormal lung morphology, Pleurit... ORPHA:767
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Recurrent infections, Pneumonia, Thrombocytosis, Pulmonary embolism, Hepatomegaly, Decreased circ... OMIM:226300
Colchicine Poisoning
Hypovolemia, Leukocytosis, Arrhythmia, Congestive heart failure, Cardiogenic shock, Myocarditis, ... ORPHA:31824
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Jaundice, Neutropenia, Anemia, Lymphadenopathy, Thr... OMIM:603552
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Mitral regurgitation, Cryptorchidism, Recurrent bacterial infections, Sp... OMIM:612541
Dominant Beta-Thalassemia
Decreased mean corpuscular hemoglobin concentration, Chronic hepatitis, Anisocytosis, Persistence... ORPHA:231226
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Subconjunctival hemorrhage, Bundle branch block, Epididymitis, Hypertension, Hemate... ORPHA:99827
African Iron Overload
Viral hepatitis, Hepatic steatosis, Congestive heart failure, Hepatic bridging fibrosis, Peritoni... ORPHA:139507
Immunodeficiency 69
Pancytopenia, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Splenomegaly, Anemia, BCGosis, Sk... OMIM:618963
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Systemic Lupus Erythematosus
Leukopenia, Arthritis, Nephritis, Hemolytic anemia, Malar rash, Pericarditis, Thrombocytopenia, L... OMIM:152700
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia, Failure to thrive OMIM:609528
Interstitial Lung Disease 2
Elevated bronchoalveolar lavage fluid neutrophil proportion, Usual interstitial pneumonia, Cough,... OMIM:178500
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Lambert Syndrome
Intrahepatic biliary atresia, Intrauterine growth retardation, Cholestasis, Decreased circulating... ORPHA:1296
Leukocyte Adhesion Deficiency
Recurrent tonsillitis, Recurrent aphthous stomatitis, Vaginitis, Recurrent urinary tract infectio... ORPHA:2968
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Chronic bronchitis, Cough, Rhinorrhea, Ciliary dyskinesia, Bronchiectasis, R... OMIM:613807
Bile Acid Synthesis Defect, Congenital, 1
Hepatic failure, Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis, Giant cell hepat... OMIM:607765
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Recurrent infections, Intrauterine growth retardation, Agammaglobulinemia, Cryptorchidism, Decrea... OMIM:616910
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Leukocytosis, Increased circulating IgM level, Increased circulating IgA level, Neutrophilia, Inc... OMIM:617099
Cardiomyopathy, Dilated, 1R