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Gene: Ptx3 MGI:104641

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
pentraxin related gene
Synonyms:
pentraxin 3,  TSG-14

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ptx3 mutations

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

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

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

The table below shows human diseases predicted to be associated to Ptx3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent viral infections, Abnormality of T cell physiology, Rec... OMIM:308220
Oocyte/Zygote/Embryo Maturation Arrest 16
Infertility OMIM:617234
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Nondisjunction
Decreased fertility OMIM:158250
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility OMIM:619009
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Decreased circulating IgA level, Recurrent infection of the gast... OMIM:605258
Immunodeficiency, partial combined, with absence of hla determinantsand beta-2-microglobulin from lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections OMIM:242870
Immunodeficiency 35
Recurrent mycobacterial infections, Recurrent viral infections, Increased circulating IgE level, ... OMIM:611521
Endometriosis, Susceptibility To, 1
Dysmenorrhea, Decreased fertility, Endometriosis OMIM:131200
Immunodeficiency, Common Variable, 5
Recurrent bacterial infections, Recurrent respiratory infections, Chronic decreased circulating t... OMIM:613495
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Recurrent pneumonia, Recurrent sinusitis, Complete or near-compl... OMIM:613494
Immunodeficiency 61
Recurrent otitis media, Decreased circulating IgG2 level, Recurrent sinusitis, Decreased circulat... OMIM:300310
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Spermatogenic Failure 17
Male infertility OMIM:617214
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... OMIM:613953
Candidiasis, Familial, 1
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
Immunodeficiency 24
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Recurrent viral ... OMIM:615897
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb... OMIM:608106
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility, Increased circulating prolactin concentration OMIM:615555
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Decreased circulating IgA level, Agammaglobulinemia,... OMIM:613500
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Mannose-Binding Lectin Deficiency
Recurrent Klebsiella infections, Recurrent meningococcal disease, Disseminated cryptosporidium in... OMIM:614372
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... OMIM:617442
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Impaired memory B cell generation, Decreased circulating IgA lev... OMIM:606843
Immunodeficiency, Common Variable, 3
Chronic decreased circulating total IgG, Recurrent otitis media, Decreased circulating IgA level,... OMIM:613493
Premature Ovarian Failure 22
Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:620548
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Osteomyelitis, Recurrent infection of the gastroint... OMIM:608184
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:612692
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent bronchitis, Agammaglobulinemia, Recurrent bacterial infections,... OMIM:613501
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent bacteria... OMIM:193670
Immunodeficiency 34
Recurrent mycobacterial infections, Pulmonary tuberculosis, BCGosis OMIM:300645
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve... OMIM:607271
Young Syndrome
Obstructive azoospermia, Decreased fertility, Recurrent bronchitis, Recurrent sinopulmonary infec... ORPHA:3471
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurrent otitis ... OMIM:240500
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... ORPHA:137686
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Impaired T cell function, Recurr... OMIM:607594
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgE, Decre... OMIM:300400
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Disseminated nontuberculous mycobacterial infection, Increased ... OMIM:300636
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Ulcerative colitis, Increased circulating IgE level, Disseminated m... OMIM:617638
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Necroti... OMIM:613860
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... OMIM:614324
Mhc Class Ii Deficiency 1
Cutaneous anergy, Recurrent upper respiratory tract infections, Recurrent viral infections, Chron... OMIM:209920
Immunodeficiency 62
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Complete or near-c... OMIM:618459
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Otitis ... OMIM:601457
Premature Ovarian Failure 20
Female infertility, Secondary amenorrhea OMIM:619938
Immunodeficiency 116
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections, Bro... OMIM:608957
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
Complement Component 8 Deficiency, Type Ii
Meningitis, Recurrent Neisserial infections OMIM:613789
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Persistent CMV viremia, Recurrent viral infections, Decreased specific anti-polysaccharide antibo... OMIM:300853
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Immunodeficiency 112
Decreased circulating IgG level, Recurrent viral infections, Chronic mucocutaneous candidiasis, B... OMIM:620449
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia ORPHA:397685
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Recurrent mycobacterial infections, Decreased circulating IgG level, Recurrent viral infections, ... ORPHA:275
Ciliary Dyskinesia, Primary, 29
Atelectasis, Infertility, Recurrent respiratory infections, Decreased circulating antibody level,... OMIM:615872
Combined Immunodeficiency, X-Linked
Pneumonia, Pneumocystis carinii pneumonia, Decreased circulating IgG level, Otitis media, Recurre... OMIM:312863
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity OMIM:607624
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis OMIM:616126
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Recurrent fungal infections, Recurrent viral infections, Decrease... OMIM:616873
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Recurrent sinop... OMIM:615513
Immunodeficiency 48
Pneumonia, Pneumocystis carinii pneumonia, Eczematoid dermatitis, Recurrent candida infections, P... OMIM:269840
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Chronic otitis media, Recurrent viral infections, Recurrent candida... ORPHA:217390
Immunoglobulin A Deficiency 1
Recurrent infections, Recurrent respiratory infections, Recurrent infection of the gastrointestin... OMIM:137100
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Recurrent infections, Recurrent pneumonia, Decreased circulating IgG level, Decreased ... ORPHA:169160
Immunodeficiency 20
BCGitis, Recurrent otitis media, Reduced natural killer cell activity, Recurrent viral upper resp... OMIM:615707
Invasive Mole
Menometrorrhagia ORPHA:99925
Immunodeficiency 11A
Pneumocystis jirovecii pneumonia, Agammaglobulinemia, Reduced antigen-specific T cell proliferati... OMIM:615206
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Recurrent viral infections, Recurrent otitis media, Molluscum contagiosum, Inc... OMIM:243700
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Recurrent infections, Defective T cell proliferation, Eczem... OMIM:614493
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Recurrent otitis media, Decreased circulating antibody level, C... ORPHA:397596
Immunodeficiency 66
Sepsis, Pustule, Defective T cell proliferation, Meningitis, Recurrent skin infections OMIM:618847
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Recurrent otitis media, Molluscum contagiosum, Increased circulating... OMIM:618982
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre... ORPHA:183675
T-Cell Immunodeficiency With Thymic Aplasia
Meningitis, Chronic otitis media, Decreased lymphocyte proliferation in response to mitogen, Ecze... ORPHA:83471
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Recurrent mycobacterial infections, Inflammation of the large intestine, Decreased circulating Ig... ORPHA:98813
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Decreased circulating IgG level, Recurrent upper respiratory tract infections, Pneumoc... OMIM:614069
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Recurrent mycobacterial infections, Recurrent Klebsiella infections, Lymphadenitis, Re... ORPHA:319552
Immunodeficiency By Defective Expression Of Mhc Class Ii
Decreased lymphocyte proliferation in response to mitogen, Recurrent viral infections, Chronic mu... ORPHA:572
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Pneumonia, Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mit... ORPHA:276
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Persistent CMV viremia, Increased circulating IgG level, Recurrent otitis media, Recurrent oral h... OMIM:619220
Complement Factor B Deficiency
Pneumonia, Recurrent meningococcal disease, Peritonitis, Recurrent bacterial infections, Meningitis OMIM:615561
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Glomerulonephritis, Increased circulating antibody level OMIM:247800
Immunodeficiency 104
Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Failure to thrive secondary ... OMIM:608971
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Bronchiectasis, ... OMIM:620282
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Decreased circulating antibody level, Recurrent sinusiti... OMIM:616576
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, Recurrent infections, Agammaglobulinemia, Post-vaccination polio OMIM:616941
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent enteroviral infections, Panhypogammaglobulinemia, Recurrent otitis... OMIM:601495
Immunodeficiency 12
Recurrent viral infections, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent... OMIM:615468
Immunodeficiency 31A
BCGitis, Recurrent viral infections, Recurrent mycobacterium avium complex infections, Herpes sim... OMIM:614892
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Recurrent tonsillitis, Membranoproliferative... OMIM:613779
Immunodeficiency 115 With Autoinflammation
Decreased circulating IgG level, Recurrent viral infections, Eczematoid dermatitis, Superficial d... OMIM:620632
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... OMIM:615139
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent enteroviral infections, Enteroviral dermatomyositis syndrome, Recurrent otit... OMIM:307200
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Chronic decreased circulating total IgG, Complete... OMIM:613496
Immunodeficiency 31B
Recurrent mycobacterial infections, Recurrent viral infections, Herpes simplex encephalitis OMIM:613796
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Recurrent sinusitis, Immotile sperm, Infertility, Bronchiectasis OMIM:618449
Immunodeficiency 18
Recurrent pneumonia, Recurrent otitis media, Abnormal circulating IgG level, Recurrent gastroente... OMIM:615615
Immunodeficiency 56
Recurrent infections, Recurrent pneumonia, Pneumocystis jirovecii pneumonia, Panhypogammaglobulin... OMIM:615207
Immunoglobulin Kappa Light Chain Deficiency
Recurrent infections, Recurrent respiratory infections, Absent circulating immunoglobulin kappa c... OMIM:614102
Immunodeficiency With Hyper-Igm, Type 1
Enteroviral encephalitis, Increased circulating IgA level, Meningitis, Recurrent lower respirator... OMIM:308230
Young Syndrome
Congenital pulmonary airway malformation, Azoospermia, Recurrent bronchitis, Recurrent sinopulmon... OMIM:279000
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent viral infections, Ch... OMIM:614868
Reticular Dysgenesis
Sepsis, Impaired T cell function, Lack of T cell function OMIM:267500
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Helicobacter pylori infection, Recurrent fungal infections, Recurr... ORPHA:2688
Specific Granule Deficiency 1
Recurrent pneumonia, Recurrent otitis media, Impaired neutrophil chemotaxis, Recurrent bacterial ... OMIM:245480
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level OMIM:146830
Premature Ovarian Failure 5
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... OMIM:611548
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Recurrent viral infections, Decreased circulating antibody level ORPHA:169079
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections, Seborrheic dermatitis, Eczematoid dermatitis, Agammaglobulinemia OMIM:619693
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Recurrent bronchitis, Meningitis, Cutaneo... ORPHA:331235
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, Recurrent pne... ORPHA:277
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent bronchitis, Chronic sinusitis, Otitis media, Recurrent Haemophilus influen... OMIM:300455
Immunodeficiency 32B
Pneumonia, Recurrent infections, BCGitis, Impaired oxidative burst, Abnormal circulating IgG leve... OMIM:226990
Immunodeficiency 52
Persistent CMV viremia, Recurrent pneumonia, Decreased circulating IgA level, Defective T cell pr... OMIM:617514
Immunodeficiency 10
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Recurrent urinary tract infections,... OMIM:612783
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Reduction of neutrophil motility, Bronchiolitis, Periodontitis, Recurrent otitis media OMIM:266265
Ciliary Dyskinesia, Primary, 9
Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro... OMIM:612444
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Increased circulating antibody level OMIM:202700
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Decreased circulating IgG level, Recurrent upper respiratory tract infect... OMIM:616005
Ectodermal Dysplasia And Immunodeficiency 1
Molluscum contagiosum, Abnormal circulating IgG level, Recurrent bacterial infections, Dysgammagl... OMIM:300291
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent upper respiratory t... ORPHA:436159
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Small scrotum, Bifid scrotum, Decreased fertility, Cryptorchidism, Ambiguous genitalia, male, Amb... ORPHA:753
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent infections, Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous ab... OMIM:618282
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Recur... ORPHA:331206
Immunodeficiency 84
Recurrent bacterial infections, Perianal abscess, Persistent EBV viremia OMIM:619437
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Recurrent sinusitis, Chronic rhinitis, Reduced progressive sperm m... OMIM:620438
Immunodeficiency 67
Recurrent staphylococcal infections, Increased circulating IgE level, Complete or near-complete a... OMIM:607676
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Partial absence of specific antibody response to tetanus vac... OMIM:618108
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea OMIM:613546
Ciliary Dyskinesia, Primary, 46
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Reduced sperm motility, Bronchi... OMIM:619436
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Recurren... OMIM:614878
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Recurrent upper respiratory tract infections, Recurrent viral infections, Decreased ly... OMIM:613179
Immunodeficiency 92
Pneumonia, Persistent CMV viremia, Decreased circulating IgG level, Partial absence of specific a... OMIM:619652
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Cutaneous anergy, Recurrent upper respiratory tract infections, Decreased lymphocyte p... OMIM:600802
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato... OMIM:233710
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Recurrent viral infections, Eczematoid dermatitis, Pyoderma, Emphysema, Redu... OMIM:242700
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility OMIM:264110
Immunodeficiency 102
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Sepsis, Decreased ... OMIM:301082
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections OMIM:618806
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea OMIM:184700
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Ciliary Dyskinesia, Primary, 36, X-Linked
Chronic otitis media, Recurrent sinusitis, Recurrent respiratory infections, Bronchiectasis, Male... OMIM:300991
Immunodeficiency 27B
Osteomyelitis, Salmonella osteomyelitis, Recurrent mycobacterium avium complex infections, Recurr... OMIM:615978
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato... OMIM:233690
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,... OMIM:616726
Immunodeficiency 64 With Lymphoproliferation
Decreased circulating IgG level, Decreased lymphocyte proliferation in response to mitogen, Incre... OMIM:618534
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Recurrent mycobacterial infections, Decreased lymphocyte proliferation in response to ... ORPHA:911
Scedosporiosis
Pneumonia, Unusual CNS infection, Unusual skin infection, Sepsis, Bronchitis, Invasive fungal inf... ORPHA:449280
Proteasome-Associated Autoinflammatory Syndrome 2
Recurrent viral infections, Abnormal circulating IgM level, Neutrophilic infiltration of the skin... OMIM:618048
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent viral infections, Severe varicella zoster infection, Eczematoid dermatitis, Decreased s... OMIM:606367
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon... ORPHA:206484
Immunodeficiency 96
Decreased circulating IgG level, Eczematoid dermatitis, Recurrent otitis media, Decreased circula... OMIM:619774
Mounier-Kühn Syndrome
Pneumonia, Recurrent respiratory infections, Bronchitis, Recurrent bronchopulmonary infections ORPHA:3347
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Autosomal Agammaglobulinemia
Recurrent infections, Bronchiectasis, Sepsis, Hepatitis, Osteomyelitis, Skin rash, Agammaglobulin... ORPHA:33110
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Lymphadenitis, Decreased lymphocyte... OMIM:618986
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections... OMIM:616100
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Recurrent Haemophilus influenzae infections, Acute infect... ORPHA:60033
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Bronchiectasis, Decreased circulating IgA level, Crohn's disease... OMIM:618394
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Keratitis, Eczematoid dermatitis, Recurrent otitis media, Increased circulating IgE level, Recurr... OMIM:618523
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Persistent CMV viremia, Recurrent urinary tract infections, Recurrent otitis media, Lymphocytic i... OMIM:618495
Immunodeficiency 81
Skin rash, Impaired neutrophil chemotaxis, Reduced antigen-specific T cell proliferation, Reduced... OMIM:619374
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Agammaglobulinemia, X-Linked
Enteroviral dermatomyositis syndrome, Recurrent otitis media, Prostatitis, Bronchiolitis oblitera... OMIM:300755
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis OMIM:615294
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Lymphadenitis, Seps... ORPHA:51636
Immunodeficiency 58
Allergic rhinitis, Molluscum contagiosum, Esophagitis, Chronic otitis media, Recurrent cutaneous ... OMIM:618131
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Atopic dermatitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Decreased c... OMIM:619752
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Recurren... OMIM:614700
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Immunodeficiency 43
Decreased circulating IgG level, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:241600
Ciliary Dyskinesia, Primary, 45
Recurrent respiratory infections, Bronchiectasis, Male infertility, Chronic rhinitis OMIM:618801
Immunodeficiency 25
Recurrent pneumonia, Recurrent candida infections, Increased circulating IgE level, Complete or n... OMIM:610163
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Pleural effusion, Otitis media, Skin rash, Increased... ORPHA:3392
Pgm3-Cdg
Allergic rhinitis, Recurrent viral infections, Increased circulating IgE level, Esophagitis, Incr... ORPHA:443811
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia ORPHA:2795
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Interstitial pneumonitis, Resp... OMIM:616433
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Recurrent viral infections,... OMIM:102700
Aspergillosis
Pneumonia, Unusual CNS infection, Keratitis, Hepatitis, Increased circulating IgE level, Osteomye... ORPHA:1163
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi... OMIM:615451
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Recurrent lower respiratory tract infections, Bronchiectasis OMIM:618254
Neonatal Alloimmune Neutropenia
Pneumonia, Meningitis, Severe infection, Sepsis ORPHA:464370
Pneumocystosis
Pneumocystis jirovecii pneumonia, Interstitial pneumonitis, Pleural effusion, Increased circulati... ORPHA:723
Ciliary Dyskinesia, Primary, 24
Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Infertility, Bronchiectasis OMIM:615481
Immunodeficiency 23
Allergic rhinitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Molluscum contagiosu... OMIM:615816
Isolated Agammaglobulinemia
Pneumonia, Sepsis, Otitis media, Skin rash, Arthritis, Sinusitis, Inflammatory abnormality of the... ORPHA:229717
Ciliary Dyskinesia, Primary, 26
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Reduced sperm motility... OMIM:615500
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato... OMIM:306400
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Amenorrhea, Hypoplasia of the ovary, Elevated cir... OMIM:615724
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Recurrent otitis media, Chronic sinusitis, Recurrent sinusitis,... OMIM:615504
Ciliary Dyskinesia, Primary, 37
Female infertility, Goiter OMIM:617577
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Decreased lymph... ORPHA:35078
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis, Chronic rhi... OMIM:615482
Ciliary Dyskinesia, Primary, 34
Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis, Immotile sperm, Bronchiectasis, Male... OMIM:617091
Complement Factor I Deficiency
Recurrent meningitis, Recurrent urinary tract infections, Recurrent otitis media, Pyelonephritis,... OMIM:610984
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczematoid dermatitis, Increased circulating IgE level, Reduced delayed hypersensitivity, Reduced... OMIM:617241
Ciliary Dyskinesia, Primary, 42
Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:618695
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Minimal change glomerulonephritis, Recurrent viral infections, Intraalveolar phospholipid accumul... OMIM:620565
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Recurrent viral infections, Periodontitis, Recurrent aphthous stomatitis, Recurrent in... ORPHA:486
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:608644
Ciliary Dyskinesia, Primary, 32
Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Infertility, Recurrent respiratory i... OMIM:616481
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Bronchiectasis, Persistent EBV viremia OMIM:619126
Ciliary Dyskinesia, Primary, 13
Recurrent otitis media, Recurrent bronchitis, Recurrent sinusitis, Infertility, Bronchiectasis OMIM:613193
Ciliary Dyskinesia, Primary, 15
Recurrent pneumonia, Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Immotile sper... OMIM:613808
Microlissencephaly
Pneumonia ORPHA:1083
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Immunodeficiency 65, Susceptibility To Viral Infections
Recurrent viral infections, Stomatitis, Bronchiectasis, Recurrent gastroenteritis OMIM:618648
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Recurrent fung... ORPHA:169090
Ciliary Dyskinesia, Primary, 11
Recurrent sinusitis, Chronic bronchitis, Chronic rhinitis, Reduced sperm motility, Recurrent resp... OMIM:612649
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... ORPHA:314478
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Complement Component 5 Deficiency
Generalized seborrheic dermatitis, Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:609536
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Eczematoid dermatitis OMIM:300299
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Atelectasis OMIM:619466
C1Q Deficiency 2
Discoid lupus rash, Pneumocystis carinii pneumonia, Sepsis, Atelectasis, Recurrent otitis media, ... OMIM:620321
Immunodeficiency 27A
Pneumonia, Increased inflammatory response, Salmonella osteomyelitis, Increased circulating IgG l... OMIM:209950
Idiopathic Achalasia
Recurrent aspiration pneumonia, Bronchitis ORPHA:930
Primary Ciliary Dyskinesia
Recurrent mycobacterial infections, Abnormal sperm motility, Female infertility, Atelectasis, Mal... ORPHA:244
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to mitogen, Recurrent viral infections, Decreased ... ORPHA:221139
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Otitis media, Recurrent sinusitis OMIM:618781
Ciliary Dyskinesia, Primary, 12
Chronic otitis media, Chronic sinusitis, Chronic rhinitis, Immotile sperm, Reduced sperm motility... OMIM:612650
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... OMIM:615505
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Glomerulonephritis, Meningiti... ORPHA:2968
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent sinusitis, Short sperm flagella, Recurrent respiratory infections, Bronchiectasis, Male... OMIM:620197
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Bloom Syndrome
Severe toxoplasmosis, Oligozoospermia, Premature ovarian insufficiency, Male infertility, Otitis ... ORPHA:125
Aromatase Deficiency
Female infertility, Male infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, ... ORPHA:91
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Decreased circulating IgA level, Chronic bronchitis, Sinusitis, Increased circulating ... OMIM:242860
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi... OMIM:608647
Postinfectious Vasculitis
Inflammatory abnormality of the skin, Increased circulating antibody level, Increased circulating... ORPHA:48435
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Immunodeficiency 89 And Autoimmunity
Increased circulating IgG level, Increased circulating IgE level, Crohn's disease, Increased circ... OMIM:619632
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Otitis media, Chronic bronchitis, Chronic sinusitis, Immotile sperm, Reduced... OMIM:613807
Ciliary Dyskinesia, Primary, 19
Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Rhinitis, Recurrent respiratory ... OMIM:614935
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Recurrent upper respiratory tract infections, Sepsis, BCGitis, Panhypogammaglobulinemi... OMIM:602450
Immunodeficiency 13
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Recurr... OMIM:615518
Melioidosis
Pneumonia, Unusual skin infection, Sepsis, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Paro... ORPHA:31202
Specific Granule Deficiency 2
Recurrent otitis media, Recurrent pneumonia, Sepsis, Recurrent bacterial infections OMIM:617475
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Recurrent bronchiolitis, Chronic bronchitis OMIM:613021
Mhc Class I Deficiency 1
Bronchiolitis, Bronchiectasis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otitis... OMIM:604571
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Pulmonary hemorrhage, Decreased platelet glycoprotein Ib OMIM:603585
Ciliary Dyskinesia, Primary, 17
Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br... OMIM:614679
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis... OMIM:615444
Immunodeficiency 77
Recurrent tonsillitis, Bronchiectasis, Cutaneous abscess, Nontuberculous mycobacterial pulmonary ... OMIM:619223
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia ORPHA:141152
Common Variable Immunodeficiency
Pneumonia, Bronchiectasis, Emphysema, Recurrent bronchitis, Otitis media, Recurrent respiratory i... ORPHA:1572
Riddle Syndrome
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Bron... ORPHA:420741
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Eczematoid dermatitis, Interstitial pneumonitis, De... OMIM:615952
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Periodontitis, Recurrent otitis media, Reduced natural killer cell activity,... OMIM:608233
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... ORPHA:199310
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Hypopla... ORPHA:3130
Bronchiolitis Obliterans
Pneumonia, Bronchiolitis obliterans, Bronchiectasis, Respiratory tract infection ORPHA:1303
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Female infertility, Amenorrhea, Increased circulating gonadotropin level,... OMIM:110100
Good Syndrome
Recurrent urinary tract infections, Decreased circulating antibody level, Sinusitis, Recurrent re... ORPHA:169105
Leukocyte Adhesion Deficiency, Type I
Periodontitis, Chronic mucocutaneous candidiasis, Osteomyelitis, Recurrent gram-negative bacteria... OMIM:116920
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Crohn's disease, Agammaglobulinemia, Decreased circulating total... OMIM:619705
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility OMIM:619518
Obesity Due To Congenital Leptin Deficiency
Recurrent upper respiratory tract infections, Decreased T cell activation, Hypoplasia of the ovar... ORPHA:66628
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Chronic rhinitis, B... ORPHA:922
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec... ORPHA:3348
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent viral infections, Recurrent enteroviral infections, Chronic mucocutaneous candidiasis, ... ORPHA:79124
Rigid Spine Syndrome
Pneumonia ORPHA:97244
Ciliary Dyskinesia, Primary, 1
Pneumonia, Bronchiectasis, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis... OMIM:244400
Ciliary Dyskinesia, Primary, 7
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis OMIM:611884
Obesity Due To Leptin Receptor Gene Deficiency
Recurrent upper respiratory tract infections, Decreased T cell activation, Hypoplasia of the ovar... ORPHA:179494
Ciliary Dyskinesia, Primary, 35
Recurrent pneumonia, Chronic sinusitis, Chronic rhinitis, Chronic otitis media, Bronchiectasis OMIM:617092
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C... ORPHA:37042
Hypocomplementemic Urticarial Vasculitis
Emphysema, Episcleritis, Pleural effusion, Skin rash, Recurrent bacterial infections, Arthritis, ... ORPHA:36412
Fusariosis
Pneumonia, Unusual CNS infection, Keratitis, Invasive fungal infection, Brain abscess, Fasciitis,... ORPHA:228119
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Chronic sinusitis, Chronic rhinitis, Recurrent lowe... OMIM:618699
Infant Acute Respiratory Distress Syndrome
Pneumonia, Sepsis, Atelectasis, Respiratory tract infection, Pulmonary edema ORPHA:70587
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Intraalveolar phospholipid accumulation, Brain abscess, Lung abscess, Recurrent respir... OMIM:610910
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Recurrent aphthous stomatitis, Recurrent infections, Bronchiectasis, Chronic... OMIM:150550
X-Linked Centronuclear Myopathy
Pneumonia, Recurrent respiratory infections ORPHA:596
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology, Primary amenorrhea ORPHA:247768
Omenn Syndrome
Pneumonia, Recurrent viral infections, Recurrent fungal infections, Erythroderma, Recurrent bacte... OMIM:603554
Ciliary Dyskinesia, Primary, 2
Otitis media, Sinusitis, Infertility, Recurrent respiratory infections, Bronchiectasis OMIM:606763
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... OMIM:277000
Staphylococcal Necrotizing Pneumonia
Pneumonia, Sepsis, Pleural effusion, Pneumothorax, Severe infection, Acute infectious pneumonia, ... ORPHA:36238
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Recurrent skin infections, Sepsis OMIM:612840
Bacterial Toxic-Shock Syndrome
Glomerulonephritis, Meningitis, Recurrent skin infections, Osteomyelitis, Myositis, Peritonitis, ... ORPHA:36234
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating luteinizing hormone level, Female infertility, Lacrimal gland hypoplasia, St... ORPHA:572333
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Increased circulating IgE level, Pancolitis, Eosinophilic infiltration of the esophagus, Perianal... OMIM:618213
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Recurrent infections, Bronchiectasis, Reduced sperm motility OMIM:615434
Ciliary Dyskinesia, Primary, 38
Bronchiectasis, Chronic sinusitis, Infertility, Rhinitis, Chronic otitis media OMIM:618063
Q Fever
Pneumonia, Unusual infection, Hepatitis, Osteomyelitis, Pleural effusion, Cholecystitis, Infectio... ORPHA:781
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased testicular size, De... ORPHA:90796
Immunodeficiency 21
Osteomyelitis, Recurrent fungal infections, Recurrent viral infections, Recurrent mycobacterium a... OMIM:614172
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent viral infections, Se... ORPHA:293978
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Chronic in... ORPHA:2357
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Sepsis, Abnormal pulmonary interstitial morphology, Acute... ORPHA:178320
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos... OMIM:610913
Ciliary Dyskinesia, Primary, 30
Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent respiratory infections, ... OMIM:616037
Immunodeficiency 47
Decreased circulating total IgG, Chronic decreased circulating total IgG, Decreased circulating t... OMIM:300972
Vici Syndrome
Cutaneous anergy, Decreased circulating IgG level, Recurrent viral infections, Chronic mucocutane... OMIM:242840
Interstitial Lung Disease 1
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele... OMIM:619611
Hereditary Orotic Aciduria
Recurrent respiratory infections, Impaired T cell function ORPHA:30
Immunodeficiency 82 With Systemic Inflammation
Pneumonia, Decreased lymphocyte proliferation in response to mitogen, Decreased circulating total... OMIM:619381
Sporadic Creutzfeldt-Jakob Disease
Recurrent infections, Recurrent aspiration pneumonia, Sepsis ORPHA:204
Wiskott-Aldrich Syndrome
Inflammation of the large intestine, Recurrent upper respiratory tract infections, Recurrent pneu... OMIM:301000
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Chédiak-Higashi Syndrome
Recurrent infections, Recurrent staphylococcal infections, Abnormality of neutrophil physiology, ... ORPHA:167
Graft Versus Host Disease
Pneumonia, Inflammatory abnormality of the skin, Fasciitis, Acute hepatitis, Chronic hepatitis, R... ORPHA:39812
Adult Acute Respiratory Distress Syndrome
Pneumonia, Pulmonary edema, Sepsis, Pancreatitis ORPHA:70578
Mirage Syndrome
Sepsis, Recurrent urinary tract infections, Aspiration pneumonia, Recurrent bacterial infections,... OMIM:617053
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a... ORPHA:3109
Timothy Syndrome
Pneumonia, Recurrent infections, Bronchitis OMIM:601005
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Honeycomb lung, Abnormal pulmo... ORPHA:2032
Pulmonary Non-Tuberculous Mycobacterial Infection
Mycobacterium abscessus abscessus infection, Disseminated nontuberculous mycobacterial infection,... ORPHA:411703
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia OMIM:619057
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia OMIM:619971
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia ORPHA:90117
Progeroid Short Stature With Pigmented Nevi
Allergic rhinitis, Recurrent viral infections, Impaired T cell function, Allergic conjunctivitis,... OMIM:176690
Cystic Fibrosis
Recurrent Burkholderia cepacia infections, Recurrent Aspergillus infections, Nontuberculous mycob... ORPHA:586
Avian Influenza
Pneumonia, Myelitis, Sepsis, Hepatitis, Pleural effusion, Infectious encephalitis, Pneumothorax, ... ORPHA:454836
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hypogonadism, Impaired T cell function, Recurrent candida infections OMIM:201100
Coccidioidomycosis
Pneumonia, Unusual CNS infection, Folliculitis, Invasive fungal infection, Increased circulating ... ORPHA:228123
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Decreased circulating antibody level OMIM:248500
Nocardiosis
Lymphadenitis, Scleritis, Meningitis, Endocarditis, Unusual CNS infection, Cutaneous abscess, Ost... ORPHA:31204
Sarcoidosis, Susceptibility To, 2
Emphysema, Pleural effusion, Pneumothorax, Erythema nodosum, Abnormal pulmonary interstitial morp... OMIM:612387
Chediak-Higashi Syndrome
Periodontitis, Recurrent systemic pyogenic infections, Recurrent infections, Recurrent bacterial ... OMIM:214500
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Aspiration pneumonia ORPHA:52368
Microsporidiosis
Lymphadenitis, Keratoconjunctivitis, Prostatitis, Endocarditis, Osteomyelitis, Myositis, Peritoni... ORPHA:2552
Shwachman-Diamond Syndrome
Pneumonia, Bone marrow hypocellularity, Recurrent viral infections, Sepsis, Eczematoid dermatitis... ORPHA:811
Alpha-Mannosidosis, Adult Form
Pneumonia, Recurrent infections, Recurrent gastroenteritis ORPHA:309288
Chromomycosis
Recurrent bacterial infections, Abnormal lung morphology, Keratoconjunctivitis sicca, Keratitis ORPHA:182
Brucellosis
Arteritis, Sacroiliac arthritis, Knee osteoarthritis, Glomerulonephritis, Endocarditis, Epididymi... ORPHA:1304
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Pulmonary cyst, Recurrent upper respiratory tract infections, Recurrent pneumonia, Eczematoid der... OMIM:147060
Yellow Nail Syndrome
Recurrent respiratory infections, Sinusitis, Rhinitis, Pleuritis, Bronchiectasis, Neoplasm of the... ORPHA:662
Ataxia-Telangiectasia
Decreased circulating IgG level, Female hypogonadism, Defective B cell differentiation, Decreased... OMIM:208900
Congenital Disorder Of Glycosylation, Type Iil
Recurrent infections, Inflammation of the large intestine, Decreased specific anti-polysaccharide... OMIM:614576
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia ORPHA:2590
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Sepsis, Interstitial pneumonitis ORPHA:231154
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Immunodeficiency 31C
Recurrent infections, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Decreased lymphoc... OMIM:614162
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Omenn Syndrome
Pneumonia, Sepsis, Erythroderma, Thyroiditis ORPHA:39041
Nijmegen Breakage Syndrome
Recurrent pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Recurrent infect... OMIM:251260
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent upper respiratory tract infections, Sepsis, Recurrent urinary tract infections, Otitis ... OMIM:612541
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Interstitial pneumonitis OMIM:620296
Bloom Syndrome
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat... OMIM:210900
Igg4-Related Kidney Disease
Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Increased circulating IgE level, ... ORPHA:449395
Pyruvate Dehydrogenase E1-Alpha Deficiency
Recurrent infections, Recurrent aspiration pneumonia ORPHA:79243
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Slc35A1-Cdg
Pneumonia, Pulmonary hemorrhage ORPHA:238459
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Inflammation of the large intestine, Lymphadenitis, Eczematoid dermatitis, Erythroderma, Recurren... OMIM:615895
Oculopharyngodistal Myopathy
Recurrent aspiration pneumonia ORPHA:98897
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Erythroderma, M... ORPHA:139402
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Recurrent viral infections, Sepsis, Pleural effusion, Severe cytomegalovirus ... OMIM:619573
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Listeriosis
Pneumonia, Unusual CNS infection, Arteritis, Unusual skin infection, Sepsis, Brain abscess, Osteo... ORPHA:533
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Chilblains, Skin rash, Increased cir... OMIM:615846
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Emphysema, Pleural effusion, Abnormality of T cell physiolog... OMIM:181000
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Recurrent respiratory infections ORPHA:98905
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Mitochondrial Complex I Deficiency, Nuclear Type 33
Bronchiectasis, Aspiration pneumonia OMIM:618253
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Fibrocys... OMIM:158310
Velocardiofacial Syndrome
Unilateral primary pulmonary dysgenesis, Pulmonary artery atresia, Recurrent infections, Impaired... OMIM:192430
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Spondyloenchondrodysplasia
Pneumonia, Hepatitis, Skin rash, Arthritis, Juvenile rheumatoid arthritis, Recurrent infections ORPHA:1855
Cryptococcosis
Pneumonia, Sepsis, Osteomyelitis, Nodular pattern on pulmonary HRCT, Pleural effusion, Peritoniti... ORPHA:1546
Zygomycosis
Pustule, Acute infectious pneumonia, Endocarditis, Unusual skin infection, Pleural effusion, Peri... ORPHA:73263
Juvenile Neuronal Ceroid Lipofuscinosis
Aspiration pneumonia ORPHA:79264
Lysinuric Protein Intolerance
Intraalveolar phospholipid accumulation, Recurrent bacterial infections, Increased circulating an... ORPHA:470
Meconium Aspiration Syndrome
Pneumothorax, Atelectasis, Aspiration pneumonia ORPHA:70588
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Decreased fertility, Recurrent sinusiti... OMIM:615067
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Irregular menstruation, Inflammation of the large intestine, Periodontitis, Menorrhagia, Gout, En... ORPHA:79259
Adult-Onset Still Disease
Bone marrow hypocellularity, Hepatitis, Interstitial pneumonitis, Skin rash, Arthritis, Arthralgi... ORPHA:829
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Acute infectious pneumonia ORPHA:264675
Congenital Syphilis
Pneumonia, Keratitis, Synovitis, Pancreatitis, Myocarditis, Meningitis, Rhinitis, Maculopapular e... ORPHA:499009
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Anomalous pulmonary venous return, Recurrent bacterial infections ORPHA:99104
Hennekam-Beemer Syndrome
Pneumonia, Mastocytosis ORPHA:2135
Sickle Cell Disease
Recurrent bacterial infections, Priapism OMIM:603903
Shigellosis
Pneumonia, Sepsis, Ulcerative colitis, Peritonitis, Arthritis, Myocarditis, Conjunctivitis, Acute... ORPHA:810
Roifman-Chitayat Syndrome
Pneumonia, Arthritis OMIM:613328
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Severe Acute Respiratory Syndrome
Acute infectious pneumonia ORPHA:140896
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia OMIM:253700
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Recurrent sinusitis, Juvenile rheumatoid... OMIM:607944
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Glycogen Storage Disease Ib
Recurrent bacterial infections, Inflammation of the large intestine, Pancreatitis, Gout OMIM:232220
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Pneumonia, Sepsis, Skin rash ORPHA:247691
Insulin-Resistance Syndrome Type B
Pneumonia, Nephritis, Skin rash, Increased circulating IgA level, Osteoarthritis, Increased circu... ORPHA:2298
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Brain abscess, Severe viral infection, Respiratory tract infection, Severe infection, ... ORPHA:544482
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Orotic Aciduria
Impaired T cell function OMIM:258900
Gm1 Gangliosidosis
Recurrent respiratory infections, Infectious encephalitis, Aspiration pneumonia ORPHA:354
Patent Urachus
Recurrent gram-negative bacterial infections, Recurrent urinary tract infections ORPHA:431341
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... ORPHA:95430
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Interstitial pneumonitis, Abnormal pulmonary interstitial morphology, Intraalveolar phospholipid ... ORPHA:217563
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia ORPHA:216866
Atrial Septal Defect, Ostium Secundum Type
Pneumonia, Recurrent bacterial infections ORPHA:99103
Turner Syndrome Due To Structural X Chromosome Anomalies
Female infertility, Abnormality of the ovary, Premature ovarian insufficiency, Primary amenorrhea... ORPHA:99413
Turner Syndrome
Female infertility, Abnormality of the ovary, Premature ovarian insufficiency, Primary amenorrhea... ORPHA:881
Mosaic Monosomy X
Female infertility, Abnormality of the ovary, Premature ovarian insufficiency, Primary amenorrhea... ORPHA:99228
Monosomy X
Female infertility, Abnormality of the ovary, Premature ovarian insufficiency, Primary amenorrhea... ORPHA:99226
Fanconi Anemia, Complementation Group F
Pneumonia, Bone marrow hypocellularity OMIM:603467
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent aspiration pneumonia, Recurrent pneumonia OMIM:300472
Alpha-Mannosidosis, Infantile Form
Pneumonia, Recurrent urinary tract infections, Otitis media, Recurrent gastroenteritis, Recurrent... ORPHA:309282
Infantile Neuroaxonal Dystrophy
Aspiration pneumonia ORPHA:35069
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia, Neonatal sepsis ORPHA:90790
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Tracheobronchial leiomyomatosis, Recurrent respiratory infections, Keratitis, Aspiration pneumonia ORPHA:1018
Bronchial Neuroendocrine Tumor
Pneumonia, Abnormal pulmonary interstitial morphology ORPHA:97287
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent infections, Keratitis, Eczematoid dermatitis, Episcleritis, Scleritis, Recurrent bacter... ORPHA:2273
Amoebiasis Due To Free-Living Amoebae
Pneumonia, Unusual skin infection, Respiratory tract infection, Infectious encephalitis, Pustule,... ORPHA:68
Cystic Fibrosis
Recurrent pneumonia, Chronic sinusitis, Pancreatitis, Recurrent bronchopulmonary infections, Bron... OMIM:219700
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Inflammatory abnormality of the skin ORPHA:26793
Adult-Onset Autosomal Dominant Leukodystrophy
Recurrent urinary tract infections, Impotence, Erectile dysfunction, Aspiration pneumonia ORPHA:99027
Bickerstaff Brainstem Encephalitis
Pneumonia, Severe infection, Respiratory tract infection, Recurrent gastroenteritis ORPHA:79138
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Sepsis, Recurrent urinary tract infections, Pyoderma, Pneumothorax, Gastrointestinal i... ORPHA:79404
Mucopolysaccharidosis Type 3
Recurrent tonsillitis, Aspiration pneumonia, Respiratory tract infection, Otitis media, Recurrent... ORPHA:581
Proximal Spinal Muscular Atrophy
Recurrent infections due to aspiration, Recurrent aspiration pneumonia ORPHA:70
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia OMIM:258865
Hemorrhagic Fever-Renal Syndrome
Pneumonia, Pleural effusion, Pulmonary edema, Severe infection, Glomerulonephritis, Tubulointerst... ORPHA:340
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Mucopolysaccharidosis, Type Vi
Pneumonia, Recurrent upper respiratory tract infections OMIM:253200
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Pulmonary fibrosis, Interstitial pneumonitis OMIM:127550
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Psoriasiform dermatitis, Abnormality of T cell physiology ORPHA:2237
Gaucher Disease, Type Ii
Recurrent aspiration pneumonia, Bronchiolitis OMIM:230900
Plague
Inflammation of the large intestine, Sepsis, Lymphadenitis, Chapped lip, Skin rash, Enterocolitis... ORPHA:707
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Interstitial pneumonitis ORPHA:454831
Combined Oxidative Phosphorylation Deficiency 25
Aspiration pneumonia OMIM:616430
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Recurrent aspiration pneumonia, Recurrent respiratory infections ORPHA:397715
Marshall-Smith Syndrome
Recurrent aspiration pneumonia, Recurrent upper respiratory tract infections, Aspiration pneumonia OMIM:602535
Cornelia De Lange Syndrome 1
Pneumonia, Otitis media OMIM:122470
Chops Syndrome
Anomalous pulmonary venous return, Aspiration pneumonia OMIM:616368
Mercury Poisoning
Interstitial pneumonitis ORPHA:330021
Coffin-Siris Syndrome
Recurrent infections, Recurrent upper respiratory tract infections, Aspiration pneumonia ORPHA:1465
Degcags Syndrome
Pneumonia, Recurrent infections, Recurrent urinary tract infections, Chordee, Rhinitis OMIM:619488
Geleophysic Dysplasia 3
Pneumonia OMIM:617809
Neuroleptic Malignant Syndrome
Sepsis, Aspiration pneumonia ORPHA:94093
Gm1 Gangliosidosis Type 1
Aspiration pneumonia ORPHA:79255
Digeorge Syndrome
Recurrent pneumonia, Atelectasis, Impaired T cell function, Recurrent otitis media, Recurrent sin... OMIM:188400
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Pneumonia, Inflammatory abnormality of the skin, Keratitis, Sepsis, Skin rash, Keratoconjunctivit... ORPHA:95455
Tay-Sachs Disease
Aspiration pneumonia ORPHA:845
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Recurrent aspiration pneumonia ORPHA:73230
Cholera
Aspiration pneumonia ORPHA:173
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Seborrheic dermatitis, Aspiration pneumonia OMIM:301072
Liver Disease, Severe Congenital
Pneumonia, Sepsis, Eczematoid dermatitis, Recurrent urinary tract infections, Recurrent otitis me... OMIM:619991
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pneumonia, Recurrent respiratory infections, Otitis media, Recurrent urinary tract infections ORPHA:353281
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Aspiration pneumonia ORPHA:2020
Arboleda-Tham Syndrome
Recurrent aspiration pneumonia, Recurrent urinary tract infections, Recurrent otitis media, Conju... OMIM:616268
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Recurrent Staphylococcus aureus infections, Septic arthritis, Recurrent... ORPHA:642
Miller-Dieker Lissencephaly Syndrome
Recurrent aspiration pneumonia OMIM:247200
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Recurrent aspiration pneumonia, Peripheral pulmonary artery stenosis, Blepharitis ORPHA:280633
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Pneumonia, Recurrent respiratory infections, Otitis media, Recurrent urinary tract infections ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Pneumonia, Recurrent respiratory infections, Otitis media, Recurrent urinary tract infections ORPHA:353277
Wiedemann-Rautenstrauch Syndrome
Pneumonia, Recurrent respiratory infections OMIM:264090
Opitz Gbbb Syndrome
Recurrent aspiration pneumonia ORPHA:2745
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Aspiration pneumonia ORPHA:444077
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Aspiration pneumonia OMIM:619482
Kabuki Syndrome 1
Recurrent otitis media, Recurrent aspiration pneumonia, Recurrent infections OMIM:147920
Fontaine Progeroid Syndrome
Recurrent aspiration pneumonia, Pneumothorax, Pulmonary hypoplasia OMIM:612289
Niemann-Pick Disease Type C
Abnormal lung morphology, Aspiration pneumonia ORPHA:646
Semilobar Holoprosencephaly
Aspiration pneumonia ORPHA:220386
Alobar Holoprosencephaly
Aspiration pneumonia ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Aspiration pneumonia ORPHA:93926
Lobar Holoprosencephaly
Aspiration pneumonia ORPHA:93924
Doors Syndrome
Aspiration pneumonia ORPHA:79500
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Aspiration pneumonia ORPHA:438213
Lafora Disease
Recurrent aspiration pneumonia ORPHA:501
Chronic Visceral Acid Sphingomyelinase Deficiency
Abnormal pulmonary interstitial morphology, Interstitial pneumonitis ORPHA:77293
Pmm2-Cdg
Aspiration pneumonia, Hypogonadotropic hypogonadism, Impaired neutrophil chemotaxis, Pericarditis ORPHA:79318
Yunis-Varon Syndrome
Aspiration pneumonia OMIM:216340

Histopathology

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

There is no histopathology data for Ptx3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ptx3.

No publications found that use IMPC mice or data for Ptx3.

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