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:
TSG-14,  pentraxin 3

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 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
Oocyte maturation arrest, Female infertility 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
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... OMIM:308220
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
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
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Young Syndrome
Recurrent sinopulmonary infections, Obstructive azoospermia, Decreased fertility, Recurrent bronc... ORPHA:3471
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Decreased circulating IgG level, Recurrent candida infections OMIM:242870
Endometriosis, Susceptibility To, 1
Decreased fertility, Dysmenorrhea, Endometriosis OMIM:131200
Immunodeficiency With Hyper-Igm, Type 2
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Impaired Ig ... OMIM:605258
Immunodeficiency 18
Recurrent otitis media, Recurrent respiratory infections, Defective T cell proliferation, Recurre... OMIM:615615
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Immunodeficiency 35
Recurrent respiratory infections, Recurrent viral infections, Recurrent mycobacterial infections,... OMIM:611521
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility OMIM:300604
Spermatogenic Failure 17
Male infertility OMIM:617214
Immunodeficiency 51
Recurrent respiratory infections, Recurrent skin infections, Pneumonia, Eczema, Abnormal lymphocy... OMIM:613953
Candidiasis, Familial, 1
Cutaneous anergy, Chronic mucocutaneous candidiasis, Recurrent viral infections OMIM:114580
Immunodeficiency With Hyper-Igm, Type 5
Impaired Ig class switch recombination, Epididymitis, Increased circulating IgM level, Recurrent ... OMIM:608106
Immunodeficiency 24
Decreased circulating IgG level, Recurrent viral infections, Respiratory tract infection, Severe ... OMIM:615897
Hyperprolactinemia
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration OMIM:615555
Immunodeficiency, Common Variable, 3
Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... OMIM:613493
Agammaglobulinemia 2, Autosomal Recessive
Recurrent respiratory infections, Recurrent pneumonia, Agammaglobulinemia, Decreased circulating ... OMIM:613500
Mannose-Binding Lectin Deficiency
Recurrent herpes, Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent Kl... OMIM:614372
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... OMIM:613502
Immunodeficiency 61
Recurrent respiratory infections, Frequent Giardia lamblia infestation, Decreased circulating IgG... OMIM:300310
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Immunodeficiency With Hyper-Igm, Type 4
Osteomyelitis, Impaired Ig class switch recombination, Recurrent upper respiratory tract infectio... OMIM:608184
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent bacterial inf... OMIM:612692
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci, Recurrent staphylococcal infections OMIM:233670
Whim Syndrome 1
Recurrent upper respiratory tract infections, Bronchiectasis, Decreased circulating antibody leve... OMIM:193670
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Otitis media, Decreased circulating IgG level, Recurrent bronchitis OMIM:312863
Agammaglobulinemia 3, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections, Absent isohemagglutinin level, Recurrent otit... OMIM:613501
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Immunodeficiency, Common Variable, 2
Impaired T cell function, Recurrent pneumonia, Bronchiectasis, Recurrent bacterial infections, Co... OMIM:240500
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Immunodeficiency 48
Recurrent respiratory infections, Pneumonia, Recurrent candida infections, Eczematoid dermatitis,... OMIM:269840
Immunodeficiency, Common Variable, 1
Impaired T cell function, Pneumonia, Recurrent pneumonia, Bronchiectasis, Decreased circulating t... OMIM:607594
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... ORPHA:137686
Severe Combined Immunodeficiency, X-Linked
Skin rash, Pneumonia, Reduced natural killer cell activity, Recurrent bacterial meningitis, Recur... OMIM:300400
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Asthma, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulcerative... OMIM:617638
Immunodeficiency 33
Pneumocystis jirovecii pneumonia, Increased circulating IgA level, Decreased circulating total Ig... OMIM:300636
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Recurrent opportunistic infections, Arthritis, Panhypogammaglobulin... OMIM:601457
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent opportunisti... ORPHA:275
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent... OMIM:243700
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility OMIM:619938
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Recurrent bacterial skin infections, Pneumonia, Recurrent viral... ORPHA:217390
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Immunodeficiency 62
Recurrent herpes, Severe recurrent varicella, Recurrent upper respiratory tract infections, Bronc... OMIM:618459
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Cd8 Deficiency, Familial
Recurrent respiratory infections, Bronchiectasis, Recurrent bacterial infections, Recurrent viral... OMIM:608957
Griscelli Syndrome, Type 2
Reduced delayed hypersensitivity, Recurrent bacterial infections OMIM:607624
Ficolin 3 Deficiency
Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infections, Recurre... OMIM:613860
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Chronic lymphocytic meningitis, Recurrent urinary tract infections, Cholangitis,... OMIM:209920
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent respiratory infections, Persistent CMV viremia, Recurrent viral infections, Severe vari... OMIM:300853
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections OMIM:616022
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Immunodeficiency 20
Recurrent respiratory infections, Recurrent oral herpes, Reduced natural killer cell activity, Se... OMIM:615707
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent herpes, Pneumonia, Recurrent pneumonia, Hepatitis, Recurrent candida infections, Recurr... ORPHA:169160
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent respiratory infections, Recurrent sinopulmonary infections, Recurrent ear infections, B... OMIM:615513
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Recurrent infections, Eczema, Reduced natural killer cell activity OMIM:614493
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Activated Pi3K-Delta Syndrome
Pneumonia, Severe varicella zoster infection, Recurrent tonsillitis, Bronchiectasis, Decreased ci... ORPHA:397596
Immunodeficiency 66
Recurrent skin infections, Pustule, Sepsis, Defective T cell proliferation, Meningitis OMIM:618847
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Recurrent herpes, Cholangitis, Bronchitis, Sepsis, Pulmonary tuberculosis, Cho... ORPHA:183675
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Tegumentary leishmaniasis susceptibility, Pneumonia, Recurrent mycobacterial infections, BCGosis,... ORPHA:319552
Immunodeficiency 11A
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased circulating antibod... OMIM:615206
T-Cell Immunodeficiency With Thymic Aplasia
Sinusitis, Sepsis, Recurrent candida infections, Chronic otitis media, Opportunistic infection, M... ORPHA:83471
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Eczema, Abnormal immunoglobulin level, Invasive fungal infection, Recurrent mycobacterial infecti... ORPHA:98813
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Recurrent infection... OMIM:618982
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumocystis jirovecii pneumonia, Pneumonia, Recurrent upper respiratory tract infections, Recurr... OMIM:614069
Immunodeficiency 104
Eczema, Pneumonia, Recurrent opportunistic infections, Chronic mucocutaneous candidiasis, Failure... OMIM:608971
Young Syndrome
Recurrent sinopulmonary infections, Bronchiectasis, Azoospermia, Congenital pulmonary airway malf... OMIM:279000
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent bacterial skin infections, Recurrent herpes, Skin rash, Pneumonia, Abnormal immunoglobu... ORPHA:276
Immunodeficiency, Common Variable, 6
Recurrent respiratory infections, Glomerulonephritis, Recurrent bacterial infections, Chronic dec... OMIM:613496
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Recurrent he... ORPHA:572
Ciliary Dyskinesia, Primary, 9
Male infertility, Neonatal respiratory distress, Pneumonia, Bronchiectasis, Decreased nasal nitri... OMIM:612444
Complement Factor B Deficiency
Pneumonia, Peritonitis, Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Recurrent bacterial infections OMIM:245480
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis, Increased circulating antibody level, Pneumonia OMIM:247800
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Recurrent urinary tract infections, Enteroviral dermatomyositis syndrome, Recurrent enteroviral i... OMIM:307200
Ciliary Dyskinesia, Primary, 41
Impaired nasal mucociliary clearance, Bronchiectasis, Infertility, Recurrent sinusitis, Immotile ... OMIM:618449
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Atrophic gastritis, Recurrent skin infections, Recurrent pneu... OMIM:616576
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent oral herpes, Persistent CMV viremia, Bronchiectasis, Increased circulating IgG level, I... OMIM:619220
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Immunodeficiency 12
Skin rash, Decreased lymphocyte proliferation in response to anti-CD3, Recurrent viral infections... OMIM:615468
Immunodeficiency 109 With Lymphoproliferation
Decreased lymphocyte proliferation in response to anti-CD3, Bronchiectasis, Persistent EBV viremi... OMIM:620282
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Decreased circulating antibody level OMIM:616873
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... OMIM:615139
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, Post-vaccination polio, Recurrent otitis media, Recurrent infections OMIM:616941
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Bronchie... OMIM:601495
Complement Component 3 Deficiency, Autosomal Recessive
Recurrent bacterial infections, Recurrent pneumonia, Membranoproliferative glomerulonephritis, Re... OMIM:613779
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Recurrent infections, Recurrent infection of the gastrointestin... OMIM:137100
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Decreased circulating IgG level, Meningitis, Impaired memory B... OMIM:308230
Immunodeficiency 52
Persistent CMV viremia, Recurrent pneumonia, Bronchiectasis, Recurrent infections, Persistent EBV... OMIM:617514
Reticular Dysgenesis
Sepsis, Impaired T cell function, Lack of T cell function OMIM:267500
Immunodeficiency 56
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Cholangitis, Recurrent pneumo... OMIM:615207
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level OMIM:146830
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Selective Igm Deficiency
Recurrent herpes, Fasciitis, Recurrent staphylococcal infections, Severe varicella zoster infecti... ORPHA:331235
Immunodeficiency 110 With Lymphoproliferation
Recurrent skin infections, Recurrent viral infections, Recurrent upper respiratory tract infectio... OMIM:614868
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... OMIM:611548
Cernunnos-Xlf Deficiency
Recurrent viral infections, Recurrent bacterial infections, Decreased circulating antibody level ORPHA:169079
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections, Eczematoid dermatitis, Seborrheic dermatitis OMIM:619693
Immunoglobulin Kappa Light Chain Deficiency
Recurrent respiratory infections, Recurrent infections, Abnormal immunoglobulin level OMIM:614102
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent Haemophilus influenzae infections, Otitis media, Chronic sinusitis, Recurr... OMIM:300455
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent sinopulmonary infections, Skin rash, Increased circulating IgE level, Recurrent pneumon... OMIM:147060
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Decreased nasa... OMIM:300991
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
Ciliary Dyskinesia, Primary, 46
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... OMIM:619436
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Infe... OMIM:615872
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Sinusitis, Recurrent opportunistic infections, Recurrent up... ORPHA:277
Immunodeficiency 32B
Recurrent respiratory infections, Sinusitis, Pneumonia, Bronchiectasis, BCGitis, Recurrent infect... OMIM:226990
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Recurrent otitis media, Periodontitis, Reduction of neutrophil motility, Bronchiolitis OMIM:266265
Adult Idiopathic Neutropenia
Helicobacter pylori infection, Recurrent infections, Increased circulating IgM level, Recurrent b... ORPHA:2688
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Erythema nodosum, Recurrent infections, Agammaglobulinemia, Pan... OMIM:615214
Purine Nucleoside Phosphorylase Deficiency
Recurrent urinary tract infections, Sinusitis, Impaired T cell function, Pneumonia, Recurrent vir... OMIM:613179
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Recurrent bacterial infections, Increased circulating antibody level OMIM:202700
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Pneumocystis jirove... ORPHA:723
Immunodeficiency 67
Increased circulating IgE level, Recurrent streptococcal infections, Recurrent staphylococcal inf... OMIM:607676
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Seve... OMIM:300291
Immunodeficiency 36 With Lymphoproliferation
Persistent CMV viremia, Recurrent upper respiratory tract infections, Bronchiectasis, Persistent ... OMIM:616005
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Recurrent upper respiratory tract... ORPHA:436159
Ciliary Dyskinesia, Primary, 24
Neonatal respiratory distress, Chronic pulmonary obstruction, Bronchiectasis, Decreased nasal nit... OMIM:615481
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Reduced forced vit... OMIM:618781
Scedosporiosis
Sinusitis, Bronchitis, Sepsis, Pulmonary tuberculosis, Cough, Unusual skin infection, Fungal meni... ORPHA:449280
Immunodeficiency 57 With Autoinflammation
Recurrent respiratory infections, Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreas... OMIM:618108
Immunodeficiency 84
Perianal abscess, Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Skin rash, Recurrent viral infections, Lymphadenitis, Decreased circulating antibody level, Decre... ORPHA:331206
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Cryptorchidism, Decreased fertility, Perineal ... ORPHA:753
Ciliary Dyskinesia, Primary, 23
Neonatal respiratory distress, Chronic bronchitis, Productive cough, Recurrent pneumonia, Bronchi... OMIM:615451
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Osteomyelitis, Recurrent skin infections, Eczema, Increased cir... OMIM:618282
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Decreased lymphocyte proliferation in response to anti-CD3, Pneumonia, Meningitis, Recurrent uppe... OMIM:600802
Ciliary Dyskinesia, Primary, 26
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615500
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S... OMIM:233710
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Recurrent sinopulmonary infections, Enterocolitis, Ulcerative colitis, Decreased circulating tota... OMIM:614878
Immunodeficiency 92
Recurrent oral herpes, Osteomyelitis, Persistent CMV viremia, Cholangitis, Pneumonia, BCGosis, Sc... OMIM:619652
Ciliary Dyskinesia, Primary, 39
Decreased nasal nitric oxide, Bronchiectasis, Cough, Recurrent otitis media, Recurrent lower resp... OMIM:618254
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Atopic dermatitis, Recurrent upper respiratory tract infections, Pneumonia OMIM:618806
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility OMIM:264110
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Ciliary Dyskinesia, Primary, 42
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... OMIM:618695
Mounier-Kühn Syndrome
Recurrent respiratory infections, Recurrent bronchopulmonary infections, Pneumonia, Bronchitis ORPHA:3347
Ciliary Dyskinesia, Primary, 27
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615504
Immunodeficiency 27B
Recurrent mycobacterial infections, Osteomyelitis, Recurrent mycobacterium avium complex infectio... OMIM:615978
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent viral infections, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiec... OMIM:242700
Ciliary Dyskinesia, Primary, 32
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:616481
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S... OMIM:233690
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Oligomenorrhea, Amenorrhea OMIM:184700
Immunodeficiency 102
Recurrent skin infections, Partial absence of specific antibody response to Haemophilus influenza... OMIM:301082
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Ciliary Dyskinesia, Primary, 25
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Productive c... OMIM:615482
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Skin rash, Pneumonia, Recurrent viral infections, Recurrent ... ORPHA:911
Proteasome-Associated Autoinflammatory Syndrome 2
Skin rash, Neutrophilic infiltration of the skin, Recurrent viral infections, Increased circulati... OMIM:618048
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... ORPHA:206484
Ciliary Dyskinesia, Primary, 45
Male infertility, Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Chronic rhinitis OMIM:618801
Ciliary Dyskinesia, Primary, 3
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:608644
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Psoriasiform dermatitis, Decreased lymphocyte proliferation in ... OMIM:606367
Ciliary Dyskinesia, Primary, 34
Male infertility, Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, B... OMIM:617091
Ciliary Dyskinesia, Primary, 11
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Decreased na... OMIM:612649
Immunodeficiency 64 With Lymphoproliferation
Increased circulating IgA level, Bronchiectasis, Recurrent infections, Increased circulating IgG ... OMIM:618534
Autosomal Agammaglobulinemia
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... ORPHA:33110
Ciliary Dyskinesia, Primary, 15
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Wheezing, Re... OMIM:613808
Aspergillosis
Sinusitis, Cough, Meningitis, Infectious encephalitis, Chronic pulmonary obstruction, Bronchiecta... ORPHA:1163
Tularemia
Respiratory distress, Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Inflammatory abnorma... ORPHA:3392
Immunodeficiency 58
Colitis, Chronic otitis media, Recurrent cutaneous abscess formation, Chronic pulmonary obstructi... OMIM:618131
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Psoriasiform dermatitis, Eczema, Recurrent upper respiratory tract infections... OMIM:616100
Agammaglobulinemia, X-Linked
Sepsis, Decreased circulating IgE, Conjunctivitis, Decreased circulating IgG level, Infectious en... OMIM:300755
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Recurrent respiratory infections, Decreased lymphocyte proliferation in response to anti-CD3, Par... OMIM:618986
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent respiratory infections, Eczema, Keratitis, Increased circulating IgE level, Bronchiecta... OMIM:618523
Immunodeficiency 60 And Autoimmunity
Recurrent sinopulmonary infections, Bronchiectasis, Ulcerative colitis, Decreased circulating tot... OMIM:618394
Immunodeficiency 96
Eczema, Recurrent infections, Decreased circulating total IgM, Defective T cell proliferation, Re... OMIM:619774
Immunodeficiency 81
Recurrent cutaneous abscess formation, Skin rash, Reduced natural killer cell activity, Recurrent... OMIM:619374
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Sepsis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis... OMIM:614700
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Recurrent skin infections, Asthma, Increased circulating IgE level, Recurrent upper respiratory t... OMIM:619752
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Ciliary Dyskinesia, Primary, 28
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615505
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent respiratory infections, Recurrent urinary tract infections, Persistent CMV viremia, Lym... OMIM:618495
Whim Syndrome
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Lymphadenitis, Atelectas... ORPHA:51636
Ciliary Dyskinesia, Primary, 7
Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis, Restrictive ventilatory defect... OMIM:611884
Immunodeficiency 43
Recurrent respiratory infections, Decreased specific antibody response to polysaccharide vaccine,... OMIM:241600
Ciliary Dyskinesia, Primary, 14
Male infertility, Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronch... OMIM:613807
Ciliary Dyskinesia, Primary, 12
Recurrent respiratory infections, Neonatal respiratory distress, Chronic pulmonary obstruction, B... OMIM:612650
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Pgm3-Cdg
Recurrent viral infections, Sepsis, Increased circulating IgG level, Chronic otitis media, Membra... ORPHA:443811
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pn... OMIM:102700
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Recurrent pn... OMIM:608647
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Ciliary Dyskinesia, Primary, 13
Bronchiectasis, Immotile cilia, Infertility, Recurrent sinusitis, Recurrent otitis media, Ciliary... OMIM:613193
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Amenorrhea ORPHA:2795
Immunodeficiency 23
Recurrent respiratory infections, Membranoproliferative glomerulonephritis, Eczema, Recurrent sta... OMIM:615816
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Immunodeficiency 25
Recurrent herpes, Increased circulating IgA level, Increased circulating IgE level, Recurrent pne... OMIM:610163
Immunodeficiency 40
Respiratory tract infection, Severe varicella zoster infection, Recurrent pneumonia, Interstitial... OMIM:616433
Granulomatous Disease, Chronic, X-Linked
Recurrent Aspergillus infections, Recurrent bacterial skin infections, Osteomyelitis, Recurrent S... OMIM:306400
Neonatal Alloimmune Neutropenia
Pneumonia, Severe infection, Meningitis, Sepsis ORPHA:464370
Idiopathic Achalasia
Wheezing, Recurrent aspiration pneumonia, Bronchitis, Cough ORPHA:930
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Sinusitis, Skin rash, Pn... ORPHA:229717
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ... OMIM:615444
Primary Ciliary Dyskinesia
Male infertility, Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchov... ORPHA:244
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Recurrent respiratory infections, Decreased nasal nitric oxide, Bronchiectasis,... OMIM:620197
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent respiratory infections, Skin rash, Partial IgA deficiency, Recurrent viral infections, ... ORPHA:35078
Ciliary Dyskinesia, Primary, 19
Male infertility, Recurrent respiratory infections, Bronchiectasis, Immotile cilia, Rhinitis, Res... OMIM:614935
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
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
Complement Factor I Deficiency
Recurrent urinary tract infections, Recurrent skin infections, Glomerulonephritis, Recurrent Haem... OMIM:610984
Autosomal Dominant Severe Congenital Neutropenia
Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia, Recurrent ear infection... ORPHA:486
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Brain abscess, Lung abscess, Pneumonia, Dyspnea, Intraalveolar ... OMIM:610910
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Sepsis, Recurrent bact... ORPHA:169090
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia OMIM:254120
Immunodeficiency 89 And Autoimmunity
Pulmonary bulla, Increased circulating IgA level, Asthma, Increased circulating IgE level, Pleura... OMIM:619632
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Bronchiectasis, Persistent EBV viremia OMIM:619126
Microlissencephaly
Pneumonia ORPHA:1083
Immunodeficiency 27A
Increased inflammatory response, Abnormal bronchus physiology, Pneumonia, Increased circulating I... OMIM:209950
Immunodeficiency 65, Susceptibility To Viral Infections
Stomatitis, Bronchiectasis, Recurrent gastroenteritis, Recurrent viral infections OMIM:618648
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczema, Increased circulating IgE level, Bronchiolitis obliterans, Increased circulating IgM leve... OMIM:617241
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Recurrent staphylococcal infections, BCGosis, Sepsis, Conjunctiv... ORPHA:2968
Complement Component 5 Deficiency
Recurrent Neisserial infections, Generalized seborrheic dermatitis, Recurrent meningococcal disease OMIM:609536
Ciliary Dyskinesia, Primary, 17
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis, Cough, Recurrent otitis media... OMIM:614679
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Recurrent urinary tract infections, Neonatal respiratory distress, Psor... ORPHA:221139
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Eczema OMIM:300299
Bloom Syndrome
Recurrent herpes, Bronchitis, Severe varicella zoster infection, Uveitis, Otitis media, Decreased... ORPHA:125
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal endometrium morphology, Gonadal calcification, Abnormalit... ORPHA:314478
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
C1Q Deficiency 2
Chilblains, Discoid lupus rash, Atelectasis, Sepsis, Bronchiectasis, Arthritis, Recurrent otitis ... OMIM:620321
Ciliary Dyskinesia, Primary, 35
Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Decreased nasal nitric oxid... OMIM:617092
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Recurrent upper respiratory tract infections, Increased circulating IgE level, Sepsis,... OMIM:602450
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Sepsis, Hypoxemia,... ORPHA:70587
Postinfectious Vasculitis
Severe varicella zoster infection, Recurrent candida infections, Gastrointestinal inflammation, B... ORPHA:48435
Riddle Syndrome
Pneumonia, Bronchitis, Recurrent viral infections, Neonatal asphyxia, Recurrent pneumonia, Abnorm... ORPHA:420741
Familial Nasal Acilia
Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Bronchiectasis, Increased circulating IgM level, Chronic bronchitis, Decrea... OMIM:242860
Ciliary Dyskinesia, Primary, 30
Recurrent respiratory infections, Chronic bronchitis, Asthma, Bronchiectasis, Respiratory insuffi... OMIM:616037
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Severe infection, Tachypnea, Dyspnea, Sepsi... ORPHA:36238
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Chronic otitis media, Recurrent bron... OMIM:604571
Immunodeficiency 77
Nontuberculous mycobacterial pulmonary infection, Recurrent tonsillitis, Chronic pulmonary obstru... OMIM:619223
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Rigid Spine Syndrome
Abnormality on pulmonary function testing, Pneumonia, Respiratory insufficiency ORPHA:97244
Specific Granule Deficiency 2
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Sepsis OMIM:617475
Common Variable Immunodeficiency
Recurrent respiratory infections, Pneumonia, Bronchiectasis, Decreased circulating antibody level... ORPHA:1572
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... OMIM:606763
Melioidosis
Brain abscess, Unusual skin infection, Foot osteomyelitis, Lung abscess, Pneumonia, Respiratory t... ORPHA:31202
Immunodeficiency 13
Recurrent shingles, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronchiect... OMIM:615518
Ciliary Dyskinesia, Primary, 43
Neonatal respiratory distress, Productive cough, Recurrent upper respiratory tract infections, Br... OMIM:618699
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp... ORPHA:178320
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczema, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract infections, Decr... OMIM:615952
Ciliary Dyskinesia, Primary, 38
Neonatal respiratory distress, Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Im... OMIM:618063
Good Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, Sinusitis, Recurrent skin i... ORPHA:169105
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Skin rash, Dyspnea, Uveitis, Inflammatory abnormality of the eye, Recurrent bacteri... ORPHA:36412
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... OMIM:619611
Congenital Disorder Of Glycosylation, Type Iif
Recurrent bacterial infections, Decreased platelet glycoprotein Ib, Pulmonary hemorrhage OMIM:603585
Ciliary Dyskinesia, Primary, 1
Male infertility, Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Chron... OMIM:244400
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Hyperse... ORPHA:79127
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
Idiopathic Pulmonary Fibrosis
Crackles, Bronchiectasis, Abnormal pulmonary interstitial morphology, Honeycomb lung, Pulmonary f... ORPHA:2032
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell activity, Impaired ADP-induced platelet aggregation, Recurrent pneumo... OMIM:608233
Satoyoshi Syndrome
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abnormality of the ... ORPHA:3130
Leukocyte Adhesion Deficiency, Type I
Recurrent gram-negative bacterial infections, Osteomyelitis, Recurrent staphylococcal infections,... OMIM:116920
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Recurrent upper respiratory tract infections, Primary amenorrhea,... ORPHA:66628
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... ORPHA:90117
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Sepsis, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pancreatiti... ORPHA:70578
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Myositis, Sepsis, Tubulointerstitial nephritis, Colitis, Meningitis, Psoria... ORPHA:37042
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Mycobacterium abscessus abscessus infection, Dyspnea, Chronic pul... ORPHA:411703
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Recurrent upper respiratory tract infections, Primary amenorrhea,... ORPHA:179494
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Bronchiectasis, Agammaglobulinemia, Decreased circulating total IgM, Crohn's disease, Decreased c... OMIM:619705
Fusariosis
Brain abscess, Fasciitis, Sinusitis, Myositis, Maculopapular exanthema, Pneumonia, Productive cou... ORPHA:228119
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility OMIM:619518
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent ear infections, Rec... ORPHA:79124
Avian Influenza
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:454836
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Epistaxis, Recurrent skin infections, Sepsis OMIM:612840
Bacterial Toxic-Shock Syndrome
Respiratory distress, Fasciitis, Sinusitis, Myositis, Severe varicella zoster infection, Tachypne... ORPHA:36234
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto... ORPHA:251510
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Productive cough, Decreased nasal nitric oxide, Bronchiectasis, Recurrent infections, Reduced spe... OMIM:615434
Bronchogenic Cyst
Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Chronic infection, Atelectasis, Dyspnea, C... ORPHA:2357
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Omenn Syndrome
Pneumonia, Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infection... OMIM:603554
Q Fever
Respiratory distress, Pericarditis, Osteomyelitis, Maculopapular exanthema, Unusual infection, Pn... ORPHA:781
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary, Primary amenorrhea ORPHA:247768
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Bronchiectasis, Recurrent infections, Recurrent aphthous stomatitis, Chronic... OMIM:150550
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... ORPHA:264675
Immunodeficiency 10
Recurrent bacterial infections, Recurrent infections OMIM:612783
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Ciliary Dyskinesia, Primary, 16
Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Chronic otitis media, Ciliary dyskin... OMIM:614017
Sarcoidosis, Susceptibility To, 2
Erythema nodosum, Dyspnea, Pneumothorax, Bronchiectasis, Uveitis, Abnormal pulmonary interstitial... OMIM:612387
Immunodeficiency 21
Osteomyelitis, Recurrent fungal infections, Recurrent mycobacterium avium complex infections, Rec... OMIM:614172
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Candida esophagitis, Eosinophilic infiltration of the esophagus... OMIM:618213
Nocardiosis
Respiratory distress, Lymphadenitis, Nonproductive cough, Sepsis, Conjunctivitis, Emphysema, Meni... ORPHA:31204
Sporadic Creutzfeldt-Jakob Disease
Respiratory failure requiring assisted ventilation, Recurrent aspiration pneumonia, Sepsis, Recur... ORPHA:204
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei... ORPHA:90796
Immunodeficiency 47
Decreased circulating total IgG, Decreased circulating antibody level, Recurrent infections, Decr... OMIM:300972
Chédiak-Higashi Syndrome
Recurrent bacterial skin infections, Recurrent respiratory infections, Skin rash, Epistaxis, Recu... ORPHA:167
Immunodeficiency 82 With Systemic Inflammation
Osteomyelitis, Decreased circulating total IgG, Pneumonia, Bronchitis, Skin rash, Recurrent skin ... OMIM:619381
Graft Versus Host Disease
Myositis, Fasciitis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ga... ORPHA:39812
Hereditary Orotic Aciduria
Recurrent respiratory infections, Impaired T cell function ORPHA:30
Wiskott-Aldrich Syndrome
Recurrent herpes, Eczema, Epistaxis, Reduced natural killer cell activity, Increased circulating ... OMIM:301000
Vici Syndrome
Decreased circulating IgG level, Recurrent respiratory infections, Recurrent viral infections, De... OMIM:242840
Lymphoid Interstitial Pneumonia
Multiple pulmonary cysts, Skin rash, Eczema, Crackles, Respiratory tract infection, Dyspnea, Whee... ORPHA:79128
Mirage Syndrome
Recurrent urinary tract infections, Hypergonadotropic hypogonadism, Cryptorchidism, Sepsis, Recur... OMIM:617053
Timothy Syndrome
Pulmonary arterial hypertension, Pneumonia, Bronchitis, Recurrent infections OMIM:601005
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Coccidioidomycosis
Respiratory distress, Increased circulating IgG level, Cough, Morbilliform rash, Abnormal sperm m... ORPHA:228123
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Recurrent systemi... OMIM:214500
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased testicular size, Hypogonadism, Impaired T cell function, Recurrent candida infections OMIM:201100
Panbronchiolitis, Diffuse
Crackles, Rhonchi, Wheezing, Bronchiectasis, Hypoxemia, Cough OMIM:604809
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Psoriasiform dermatitis, Recurrent viral infections, Recurrent pharyngitis, Recurrent upper respi... ORPHA:293978
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Atelectasis, Pneumothorax, Hypoxemia, Aspirati... ORPHA:70588
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Decreased circulating antibody level OMIM:248500
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Interstitial pneumonitis, Restrictive ventilatory defect, Respiratory failure, Recurrent upper re... OMIM:620296
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost... ORPHA:95430
Progeroid Short Stature With Pigmented Nevi
Premature ovarian insufficiency, Allergic rhinitis, Impaired T cell function, Recurrent viral inf... OMIM:176690
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Bronchitis, Lymphadenitis, Sepsis, Nephritis, Infectious enceph... ORPHA:2552
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Perianal a... OMIM:612541
Shwachman-Diamond Syndrome
Sinusitis, Skin rash, Eczema, Pneumonia, Recurrent viral infections, Osteomyelitis, Sepsis, Recur... ORPHA:811
Alpha-Mannosidosis, Adult Form
Pneumonia, Recurrent gastroenteritis, Recurrent infections ORPHA:309288
Cystic Fibrosis
Recurrent Aspergillus infections, Recurrent respiratory infections, Sinusitis, Recurrent Burkhold... ORPHA:586
Brucellosis
Bronchitis, Knee osteoarthritis, Increased circulating IgG level, Infectious encephalitis, Epidid... ORPHA:1304
Mohr-Tranebjaerg Syndrome
Agammaglobulinemia, Aspiration pneumonia ORPHA:52368
Chromomycosis
Keratitis, Recurrent bacterial infections, Abnormal lung morphology, Keratoconjunctivitis sicca ORPHA:182
Slc35A1-Cdg
Respiratory distress, Pneumonia, Pulmonary hemorrhage, Hypoxemia ORPHA:238459
Ataxia-Telangiectasia
Decreased circulating IgG level, Sinusitis, Female hypogonadism, Recurrent bronchitis, Bronchiect... OMIM:208900
Congenital Disorder Of Glycosylation, Type Iil
Inflammation of the large intestine, Decreased specific anti-polysaccharide antibody level, Impai... OMIM:614576
Congenital Multicore Myopathy With External Ophthalmoplegia
Recurrent respiratory infections, Pneumonia, Cryptorchidism, Abnormal respiratory system physiolo... ORPHA:98905
Omenn Syndrome
Pneumonia, Sepsis, Thyroiditis, Erythroderma ORPHA:39041
Immunodeficiency 31C
Recurrent respiratory infections, Osteomyelitis, Decreased lymphocyte proliferation in response t... OMIM:614162
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Sarcoidosis, Susceptibility To, 1
Abnormality of T cell physiology, Dyspnea, Iridocyclitis, Bronchiectasis, Uveitis, Abnormal pulmo... OMIM:181000
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Sepsis ORPHA:231154
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous return, R... ORPHA:99104
Drug Reaction With Eosinophilia And Systemic Symptoms
Skin rash, Cough, Dyspnea, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubulointerstitial nephr... ORPHA:139402
Nijmegen Breakage Syndrome
Recurrent urinary tract infections, Sinusitis, Premature ovarian insufficiency, Dysgammaglobuline... OMIM:251260
Listeriosis
Respiratory distress, Brain abscess, Unusual skin infection, Pericarditis, Osteomyelitis, Pneumon... ORPHA:533
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Cryptococcosis
Respiratory distress, Osteomyelitis, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Prost... ORPHA:1546
Mitochondrial Complex I Deficiency, Nuclear Type 33
Respiratory insufficiency, Apnea, Bronchiectasis, Aspiration pneumonia OMIM:618253
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections, Cryptorchidism OMIM:241410
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Lymphadenitis, Recurrent bacterial infections, Inflammation of the large intestine, Eryth... OMIM:615895
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance, Dyspnea, ... ORPHA:99103
Hereditary Bullous Dystrophy, Macular Type
Decreased testicular size, Cryptorchidism, Pneumonia ORPHA:1867
Immunodeficiency 87 And Autoimmunity
Atrophic gastritis, Necrotizing enterocolitis, Abnormal lymphocyte proliferation, Recurrent viral... OMIM:619573
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Velocardiofacial Syndrome
Impaired T cell function, Cryptorchidism, Recurrent infections, Unilateral primary pulmonary dysg... OMIM:192430
Sickle Cell Disease
Hypoxemia, Recurrent bacterial infections, Priapism OMIM:603903
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Fibrocys... OMIM:158310
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Hepatitis, Atopic dermatitis, Arthritis, In... OMIM:615846
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Epistaxis, Irregular menstruation, Enterocolitis, Gout, Ulcerative colitis, Thyroiditis, Recurren... ORPHA:79259
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Cough, Nephritis, Infectious encephali... ORPHA:73263
Bronchial Neuroendocrine Tumor
Pneumonia, Dyspnea, Nonproductive cough, Asthma, Wheezing, Abnormal pulmonary interstitial morpho... ORPHA:97287
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Igg4-Related Kidney Disease
Lymphadenitis, Abnormal lung morphology, Increased circulating IgG level, Tubulointerstitial neph... ORPHA:449395
Lysinuric Protein Intolerance
Glomerulonephritis, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Decreased... ORPHA:470
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia OMIM:253700
Hennekam-Beemer Syndrome
Mastocytosis, Pneumonia, Respiratory insufficiency ORPHA:2135
Spondyloenchondrodysplasia
Skin rash, Pneumonia, Hepatitis, Recurrent infections, Arthritis, Juvenile rheumatoid arthritis ORPHA:1855
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Pneumonia, Restrictive ventilatory defect, Recurrent sinusitis,... OMIM:607944
Shigellosis
Pneumonia, Myocarditis, Peritonitis, Sepsis, Uveitis, Ulcerative colitis, Arthritis, Conjunctivit... ORPHA:810
Roifman-Chitayat Syndrome
Arthritis, Pneumonia OMIM:613328
Glycogen Storage Disease Ib
Recurrent bacterial infections, Inflammation of the large intestine, Pancreatitis, Gout OMIM:232220
Primary Sclerosing Cholangitis
Recurrent systemic pyogenic infections, Hepatitis, Uveitis, Polyclonal elevation of IgM, Ulcerati... ORPHA:171
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Infection-Related Hemolytic Uremic Syndrome
Brain abscess, Pneumonia, Respiratory tract infection, Dyspnea, Severe infection, Myocarditis, Se... ORPHA:544482
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Pneumonia, Skin rash, Sepsis ORPHA:247691
Insulin-Resistance Syndrome Type B
Skin rash, Pneumonia, Increased circulating IgA level, Osteoarthritis, Increased circulating IgG ... ORPHA:2298
Cystic Fibrosis
Male infertility, Reduced forced expiratory volume in one second, Reduced forced vital capacity, ... OMIM:219700
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... ORPHA:70
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Cough ORPHA:216866
Fanconi Anemia, Complementation Group F
Pneumonia, Cryptorchidism, Bone marrow hypocellularity OMIM:603467
Orotic Aciduria
Impaired T cell function OMIM:258900
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Neonatal sepsis, Macroorchidism, Pneumonia ORPHA:90790
Gm1 Gangliosidosis
Recurrent respiratory infections, Infectious encephalitis, Aspiration pneumonia ORPHA:354
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Inflammatory abnormality of the skin, Pneumonia, Episodic tachypnea, Tachypnea ORPHA:26793
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Bilateral cryptorchidism, Recurrent pneumonia, Recurrent aspiration pneumonia OMIM:300472
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Keratitis, Dyspnea, Aspiration... ORPHA:1018
Infantile Neuroaxonal Dystrophy
Apneic episodes in infancy, Aspiration pneumonia ORPHA:35069
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Glomerulonephritis, Dyspnea, Severe infection, Acute ... ORPHA:340
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Episcleritis, Recurrent respiratory infections, Eczema, Keratitis, Cryptorchidism, Cheilitis, Uve... ORPHA:2273
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Recurrent urinary tract infections, Recurrent skin infections, Pneumonia, D... ORPHA:79404
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Se... ORPHA:99413
Turner Syndrome
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Se... ORPHA:881
Mosaic Monosomy X
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Se... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Se... ORPHA:99226
Alpha-Mannosidosis, Infantile Form
Recurrent urinary tract infections, Pneumonia, Recurrent infections, Otitis media, Recurrent gast... ORPHA:309282
Gaucher Disease, Type Ii
Apnea, Stridor, Cough, Bronchiolitis, Recurrent aspiration pneumonia OMIM:230900
Amoebiasis Due To Free-Living Amoebae
Unusual skin infection, Sinusitis, Pneumonia, Respiratory tract infection, Pustule, Infectious en... ORPHA:68
Mercury Poisoning
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis ORPHA:330021
Adult-Onset Autosomal Dominant Leukodystrophy
Erectile dysfunction, Recurrent urinary tract infections, Impotence, Aspiration pneumonia ORPHA:99027
Chops Syndrome
Cryptorchidism, Anomalous pulmonary venous return, Aspiration pneumonia, Tracheomalacia, Chronic ... OMIM:616368
Geleophysic Dysplasia 3
Dyspnea, Respiratory failure, Pneumonia OMIM:617809
Mucopolysaccharidosis, Type Vi
Restrictive ventilatory defect, Recurrent upper respiratory tract infections, Pneumonia, Pulmonar... OMIM:253200
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Marshall-Smith Syndrome
Apnea, Bilateral cryptorchidism, Cryptorchidism, Recurrent upper respiratory tract infections, St... OMIM:602535
Mucopolysaccharidosis Type 3
Recurrent sinopulmonary infections, Respiratory tract infection, Recurrent tonsillitis, Upper air... ORPHA:581
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... ORPHA:2020
Dyskeratosis Congenita, Autosomal Dominant 1
Dyspnea, Interstitial pneumonitis, Bone marrow hypocellularity, Pulmonary fibrosis OMIM:127550
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Anterior uveitis, Infla... ORPHA:95455
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Plague
Respiratory distress, Chapped lip, Skin rash, Erythema nodosum, Lymphadenitis, Sepsis, Enterocoli... ORPHA:707
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology, Psoriasiform dermatitis ORPHA:2237
Degcags Syndrome
Recurrent urinary tract infections, Pneumonia, Cryptorchidism, Asthma, Recurrent infections, Rhin... OMIM:619488
Digeorge Syndrome
Acne, Impaired T cell function, Seborrheic dermatitis, Atelectasis, Asthma, Recurrent pneumonia, ... OMIM:188400
Cornelia De Lange Syndrome 1
Cryptorchidism, Pneumonia, Otitis media OMIM:122470
Coffin-Siris Syndrome
Cryptorchidism, Recurrent upper respiratory tract infections, Aspiration pneumonia, Recurrent inf... ORPHA:1465
Cholera
Tachypnea, Aspiration pneumonia, Hyperventilation ORPHA:173
Combined Oxidative Phosphorylation Deficiency 25
Aspiration pneumonia OMIM:616430
Neuroleptic Malignant Syndrome
Sepsis, Aspiration pneumonia, Pulmonary embolism ORPHA:94093
Liver Disease, Severe Congenital
Chronic gastritis, Recurrent urinary tract infections, Eczema, Pneumonia, Peritonitis, Sepsis, Hy... OMIM:619991
Gm1 Gangliosidosis Type 1
Aspiration pneumonia ORPHA:79255
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Cryptorchidism, ... ORPHA:353281
Tay-Sachs Disease
Aspiration pneumonia ORPHA:845
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia OMIM:619482
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Aspiration pneumonia, Seborrheic dermatitis OMIM:301072
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Cryptorchidism, ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Recurrent urinary tract infections, Pneumonia, Cryptorchidism, ... ORPHA:353277
Wiedemann-Rautenstrauch Syndrome
Recurrent respiratory infections, Pneumonia, Cryptorchidism OMIM:264090
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Asthma, Aspiration pneumonia, Tracheomalacia, Pulmonary arterial hypertension, Chronic lung disease ORPHA:444077
Hereditary Sensory And Autonomic Neuropathy Type 4
Fasciitis, Osteomyelitis, Recurrent Staphylococcus aureus infections, Septic arthritis, Recurrent... ORPHA:642
Semilobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:220386
Alobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Chronic lung disease, Abnormal pattern of respiration, Aspiration pneumonia ORPHA:93924
Niemann-Pick Disease Type C
Abnormal lung morphology, Respiratory failure, Respiratory insufficiency, Aspiration pneumonia ORPHA:646
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Breathing dysregulation, Cryptorchidism, Aspiration pneumonia ORPHA:438213
Doors Syndrome
Respiratory distress, Aspiration pneumonia ORPHA:79500
Pmm2-Cdg
Respiratory distress, Pericarditis, Hypogonadotropic hypogonadism, Aspiration pneumonia, Impaired... ORPHA:79318
Yunis-Varon Syndrome
Pulmonary arterial hypertension, Aspiration pneumonia, Cryptorchidism 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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