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 Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Spermatogenic Failure 3
Infertility OMIM:606766
Spermatogenic Failure 17
Infertility OMIM:617214
Oocyte Maturation Defect 3
Infertility OMIM:617712
Spermatogenic Failure 27
Infertility OMIM:617965
Oocyte Maturation Defect 4
Infertility OMIM:617743
Oocyte Maturation Defect 5
Infertility OMIM:617996
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Oocyte Maturation Defect 10
Female infertility OMIM:619176
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia, Decreased circulating antibody level OMIM:615206
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent protozoan infections, Recurrent bacterial infections, Abnormality of T cell physiology,... OMIM:308220
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Chronic decreased circulating total IgG, Recurrent bacterial in... OMIM:613495
Preimplantation Embryonic Lethality 2
Infertility OMIM:617234
Monocyte Chemotactic Disorder
Cutaneous anergy, Chronic mucocutaneous candidiasis OMIM:252250
Nondisjunction
Decreased fertility OMIM:158250
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgG level, Recurrent ... OMIM:613494
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Immunodeficiency With Hyper-Igm, Type 2
Decreased circulating IgG level, Recurrent bacterial infections, Decreased circulating IgA level,... OMIM:605258
Endometriosis, Susceptibility To, 1
Endometriosis, Decreased fertility, Dysmenorrhea OMIM:131200
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Agammaglobulinemia, Recurrent bacterial infections, Recurrent bronchitis,... OMIM:613501
Immunodeficiency 18
Recurrent respiratory infections, Recurrent otitis media, Recurrent gastroenteritis, Defective T ... OMIM:615615
Immunodeficiency 35
Recurrent viral infections, Recurrent mycobacterial infections, Recurrent fungal infections, Recu... OMIM:611521
Hydatidiform Mole, Recurrent, 3
Infertility OMIM:618431
Immunodeficiency 61
Recurrent otitis media, Agammaglobulinemia, Recurrent bacterial infections, Frequent Giardia lamb... OMIM:300310
Candidiasis, Familial, 1
Cutaneous anergy, Recurrent viral infections, Chronic mucocutaneous candidiasis OMIM:114580
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Immunodeficiency With Hyper-Igm, Type 5
Decreased circulating IgG level, Increased circulating IgM level, Recurrent bacterial infections,... OMIM:608106
Immunodeficiency 24
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Persistent viremi... OMIM:615897
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent Staphylococcus aureus infections, Recurrent otit... OMIM:613953
Immunodeficiency 48
Panhypogammaglobulinemia, Recurrent candida infections, Eczematoid dermatitis, Pneumonia OMIM:269840
Agammaglobulinemia 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Agammaglobulinemia,... OMIM:613500
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Recurrent otitis media, Chronic decreased circulating total IgG,... OMIM:613493
Mannose-Binding Lectin Deficiency
Recurrent skin infections, Disseminated cryptosporidium infection, Recurrent meningococcal diseas... OMIM:614372
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... OMIM:613502
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Agammaglobulinemia 6, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... OMIM:612692
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Recurrent bacterial infections, Impaired Ig class s... OMIM:608184
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Recu... OMIM:606843
Premature Ovarian Failure 6
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... OMIM:612310
Young Syndrome
Recurrent sinopulmonary infections, Recurrent bronchitis, Decreased fertility, Obstructive azoosp... ORPHA:3471
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci OMIM:233670
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... OMIM:607594
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Sinusitis, Pneumonia, Recurrent bronchitis, Otitis media OMIM:312863
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 22
Azoospermia, Infertility OMIM:617706
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, Pn... OMIM:607271
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent bacteria... OMIM:193670
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Recurrent bacterial... OMIM:240500
Complement Component 7 Deficiency
Recurrent meningococcal disease, Recurrent Neisserial infections OMIM:610102
Spermatogenic Failure 18
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618153
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Purulent rhinitis, Pneumonia, Recurrent opportunistic infections, Meningitis, Conjunctivitis, Pan... OMIM:601457
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Recurrent infections, Pneumonia, Decreased circulating antibody level, Chronic bronchitis OMIM:614069
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Decreased ... OMIM:300400
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Immune Deficiency Disease
Decreased circulating total IgM, Recurrent viral infections, Cholangitis, Recurrent bacterial inf... OMIM:242850
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent staphylococcal infections, Recurrent bacterial infections, Recurrent streptococcus pneu... ORPHA:70592
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility OMIM:136580
Immunodeficiency 34
Severe recurrent varicella, Recurrent mycobacterial infections OMIM:300645
Immunodeficiency 33
Decreased circulating total IgM, Recurrent bacterial infections, Increased circulating IgA level,... OMIM:300636
Immunodeficiency 30
Recurrent infections, Recurrent mycobacterial infections OMIM:614891
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level, Recurrent infections OMIM:614102
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia OMIM:615214
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Recurrent viral infections, Recurrent mycobacterial infections, ... ORPHA:275
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Recurrent viral infections, Asthma, Onychomycosis, Recurrent respiratory infections, R... ORPHA:217390
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Premature Ovarian Failure 1
Premature ovarian insufficiency, Increased circulating gonadotropin level, Irregular menstruation OMIM:311360
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Increased circulati... OMIM:243700
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Recurrent upper respiratory tract infections, Recurrent viral infections, Chroni... OMIM:209920
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Recurrent otitis media, Recurrent bacterial infections OMIM:616022
Griscelli Syndrome, Type 2
Recurrent bacterial infections, Reduced delayed hypersensitivity OMIM:607624
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Recurrent Staphylococcus aureus infections, Necroti... OMIM:613860
Complement Component 6 Deficiency
Recurrent meningococcal disease OMIM:612446
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent abscess formation, Recurrent pneumonia, Recurrent infections, Decreased circulating IgG... ORPHA:169160
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Immunodeficiency 20
Recurrent oral herpes, Recurrent otitis media, BCGitis, Reduced natural killer cell activity, Rec... OMIM:615707
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased T cell activation, Recurrent otitis media, Persistent CMV viremia, Recurrent viral infe... OMIM:300853
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections, Bro... OMIM:608957
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Premature Ovarian Failure 9
Premature ovarian insufficiency, Increased circulating gonadotropin level, Amenorrhea OMIM:615724
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Male hypogonadism, Polycystic ovaries, Decreased testicular size ORPHA:393
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Amenorrhea, Menorrhagia, Oligomenorrhea ORPHA:397685
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgG level, Recurrent otitis media, Viral hepatitis, Severe infection, Chola... ORPHA:183675
Immunodeficiency 14A, Autosomal Dominant
Recurrent ear infections, Decreased specific pneumococcal antibody level, Increased circulating I... OMIM:615513
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Premature Ovarian Failure 13
Oligomenorrhea OMIM:617442
Premature Ovarian Failure 15
Oligomenorrhea OMIM:618096
Wiskott-Aldrich Syndrome 2
Eczema, Recurrent infections, Defective T cell proliferation, Reduced natural killer cell activity OMIM:614493
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Immunodeficiency 12
Recurrent bacterial infections, Recurrent viral infections OMIM:615468
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Lymphadenitis, Pneumonia, Disseminated nontuberculous mycobacterial infection, Recurrent mycobact... ORPHA:319552
Immunodeficiency 66
Recurrent skin infections, Meningitis, Defective T cell proliferation, Sepsis, Pustule OMIM:618847
Premature Ovarian Failure 5
Primary amenorrhea, Secondary amenorrhea, Reduced antral follicle count, Premature ovarian insuff... OMIM:611548
Immunodeficiency 72 With Autoinflammation
Recurrent otitis media, Recurrent infections, Increased circulating IgG level, Molluscum contagio... OMIM:618982
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent Staphylococcus aureus infections, Sinusitis, Sclerosing cholangitis, Recurrent viral in... ORPHA:572
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent cutaneous fungal infections, Decreased circulating IgG level, Increased circulating IgG... ORPHA:276
Thymic Aplasia
Severe infection, Invasive fungal infection, Atypical or prolonged hepatitis, Opportunistic infec... ORPHA:83471
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Glomerulonephritis, Pneumonia OMIM:247800
Ciliary Dyskinesia, Primary, 9
Recurrent otitis media, Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Cough, Bronchi... OMIM:612444
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Immunodeficiency, Common Variable, 6
Chronic decreased circulating total IgG, Complete or near-complete absence of specific antibody r... OMIM:613496
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent oral herpes, Recurrent otitis media, Increased circulating IgG level, Persistent CMV vi... OMIM:619220
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
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent infections, Recurrent pneumonia, Recurrent skin infections, Decreased circulating antib... OMIM:616576
Immunodeficiency 32B
Sinusitis, Recurrent infections, Pneumonia, Bronchiectasis, Recurrent respiratory infections OMIM:226990
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Recurrent otitis media, Pneumonia, Infectious encephalitis, Recurrent bacterial infect... OMIM:307200
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Infertility, Impaired nasal mucociliary clearance, Bronchiectasis, Recurr... OMIM:618449
Cernunnos-Xlf Deficiency
Recurrent bacterial infections, Decreased circulating antibody level, Recurrent viral infections ORPHA:169079
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, Recurrent infections, Agammaglobulinemia OMIM:616941
Ovarian Dysgenesis 2
Primary amenorrhea, Gonadal hypoplasia, Abnormality of the uterus, Secondary amenorrhea, Prematur... OMIM:300510
Immunodeficiency, Common Variable, 13
Recurrent bacterial infections, Decreased circulating antibody level OMIM:616873
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Agammaglobulinemia, Recurrent bacterial infections, ... OMIM:601495
Immunodeficiency 104
Pneumonia, Recurrent opportunistic infections, Eczema, Otitis media, Failure to thrive secondary ... OMIM:608971
Asherman Syndrome
Decreased fertility in females, Infertility, Dysmenorrhea, Miscarriage, Secondary amenorrhea, Met... ORPHA:137686
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Immunodeficiency 31B
Herpes simplex encephalitis, Recurrent viral infections, Recurrent mycobacterial infections OMIM:613796
Immunodeficiency 38 With Basal Ganglia Calcification
Recurrent mycobacterial infections OMIM:616126
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent bacterial infections, Recurrent viral infections, Recurrent fungal infections OMIM:614868
Immunoglobulin A Deficiency 1
Recurrent respiratory infections, Recurrent infections, Decreased circulating IgA level, Recurren... OMIM:137100
Immunodeficiency 56
Recurrent otitis media, Recurrent pneumonia, Recurrent infections, Cholangitis, Bronchiectasis, R... OMIM:615207
Young Syndrome
Azoospermia, Bronchiectasis, Recurrent bronchitis, Congenital pulmonary airway malformation, Recu... OMIM:279000
Immunodeficiency 52
Recurrent infections, Recurrent pneumonia, Persistent CMV viremia, Decreased circulating antibody... OMIM:617514
Immunodeficiency 36
Recurrent respiratory infections, Recurrent bacterial infections, Decreased circulating antibody ... OMIM:616005
Reticular Dysgenesis
Sepsis, Impaired T cell function, Lack of T cell function OMIM:267500
Adult Idiopathic Neutropenia
Recurrent infections, Helicobacter pylori infection, Increased circulating IgM level, Recurrent b... ORPHA:2688
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Recurrent infections, Decreased circulating IgA level OMIM:146830
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, Recurrent otitis media, Recurrent upper respiratory tract infections, Recurrent pneumo... ORPHA:277
Selective Igm Deficiency
Severe infection, Hashimoto thyroiditis, Rheumatoid arthritis, Recurrent urinary tract infections... ORPHA:331235
Immunodeficiency With Hyper-Igm, Type 1
Decreased T cell activation, Decreased circulating IgG level, Sclerosing cholangitis, Decreased c... OMIM:308230
Ciliary Dyskinesia, Primary, 46
Recurrent otitis media, Recurrent pneumonia, Reduced forced expiratory volume in one second, Redu... OMIM:619436
Perrault Syndrome 6
Irregular menstruation, Primary amenorrhea, Streak ovary, Secondary amenorrhea, Premature ovarian... OMIM:617565
Agammaglobulinemia 9, Autosomal Recessive
Recurrent bacterial infections, Eczematoid dermatitis, Seborrheic dermatitis, Agammaglobulinemia OMIM:619693
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Recurrent bronchitis, Atelectasis, Otitis media, Recurrent Haemophilus influenzae infections, Chr... OMIM:300455
Ciliary Dyskinesia, Primary, 29
Infertility, Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Recurrent respiratory... OMIM:615872
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Cutaneous abscess, Recurrent fun... OMIM:147060
Idiopathic Bronchiectasis
Abnormal respiratory system physiology, Emphysema, Reduced FEV1/FVC ratio, Crackles, Respiratory ... ORPHA:60033
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Recurrent infections, Bronchiolitis, Interstitial pneumonitis, D... OMIM:614878
Ciliary Dyskinesia, Primary, 32
Immotile cilia, Infertility, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections... OMIM:616481
Ciliary Dyskinesia, Primary, 36, X-Linked
Infertility, Cough, Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis, Neonat... OMIM:300991
Ectodermal Dysplasia And Immunodeficiency 1
Reduced natural killer cell activity, Increased circulating IgM level, Severe cytomegalovirus inf... OMIM:300291
Premature Ovarian Failure 16
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Reduced... OMIM:618723
Immunodeficiency 84
Perianal abscess, Recurrent bacterial infections, Persistent EBV viremia OMIM:619437
Immunodeficiency 67
Recurrent staphylococcal infections, Recurrent streptococcal infections, Increased circulating Ig... OMIM:607676
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Recurrent pneumonia, Decreased nasal nitric oxide, Ciliary dyskinesia, Br... OMIM:615294
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level, Recurrent bacterial infections OMIM:202700
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Recurrent upper respiratory tract infections, Pneumonia, Recurrent viral infections, A... OMIM:613179
Pneumocystosis
Nonproductive cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Interstitial ... ORPHA:723
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections OMIM:300299
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Scedosporiosis
Abnormal respiratory system physiology, Severe infection, Invasive fungal infection, Fungal menin... ORPHA:449280
Immunodeficiency 92
Recurrent oral herpes, Decreased circulating IgG level, Sclerosing cholangitis, Pneumonia, Persis... OMIM:619652
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Recurrent otitis media, Bronchiolitis, Pneumonia, Periodontitis OMIM:266265
Ciliary Dyskinesia, Primary, 33
Recurrent otitis media, Recurrent pneumonia, Chronic rhinitis, Cough, Recurrent bronchitis, Bronc... OMIM:616726
Immunodeficiency 57 With Autoinflammation
Decreased circulating antibody level, Inflammation of the large intestine, Bronchiectasis, Recurr... OMIM:618108
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, Recurrent upper respiratory tract infections, Pneumonia, Abnormality of B... OMIM:600802
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Small scrotum, Perineal hypospadias, Cryptorchidism, Hypoplasia of penis, Ambiguous genitalia, ma... ORPHA:753
Ciliary Dyskinesia, Primary, 23
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Recurrent p... OMIM:615451
Ciliary Dyskinesia, Primary, 44
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Bronchiectasis, Re... OMIM:618781
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Decreased circula... ORPHA:331206
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Chronic pulmonary obstruction, Chr... OMIM:253240
Ciliary Dyskinesia, Primary, 26
Immotile cilia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary cleara... OMIM:615500
Premature Ovarian Failure 7
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... OMIM:612964
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Recurrent Aspergi... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Recurrent Aspergi... OMIM:233710
Mounier-Kühn Syndrome
Recurrent bronchopulmonary infections, Pneumonia, Recurrent respiratory infections, Bronchitis ORPHA:3347
Prolactin Deficiency, Isolated
Infertility, Irregular menstruation OMIM:264110
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Recurrent bacterial infections OMIM:613779
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Recurrent upper respiratory tract infections, Pneumonia, Atopic dermatitis OMIM:618806
Ciliary Dyskinesia, Primary, 42
Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Reduced forced vital capacity, Bronchi... OMIM:618695
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615504
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Decreased nasal nitric oxide, Cough, Rhinorrhea, Bronchiectasis, Chronic ... OMIM:618254
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Recurrent upper respiratory tract infections, Pneumonia, Otitis media, Panhypogammaglobulinemia OMIM:602450
Immunodeficiency 27B
Osteomyelitis, Recurrent mycobacterium avium complex infections, Salmonella osteomyelitis, Recurr... OMIM:615978
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Recurrent Aspergi... OMIM:233690
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Nonproductive cough, Reduced FEV1/FVC ratio, Hypoxemia, Pneumonia, Airway obstruction, Reduced fo... ORPHA:1303
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Chronic rhinitis, Bronchiectasis, Recurrent respiratory infections, Male infertility OMIM:618801
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Increased circulating IgG level, Pleural thickening, Asthma, Increased circulati... OMIM:619632
Ciliary Dyskinesia, Primary, 11
Immotile cilia, Chronic rhinitis, Chronic bronchitis, Decreased nasal nitric oxide, Bronchiectasi... OMIM:612649
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Lymphadenitis, Recurrent viral infections, Recurrent mycobacterial infections, Colitis... ORPHA:911
Immunodeficiency 64
Decreased circulating IgG level, Recurrent infections, Increased circulating IgG level, Increased... OMIM:618534
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Decreased nasal nitric oxide, Bronchiectasis, Ciliary dyskinesia, Recurre... OMIM:608644
Ciliary Dyskinesia, Primary, 25
Immotile cilia, Sinusitis, Infertility, Bronchiectasis, Ciliary dyskinesia, Recurrent respiratory... OMIM:615482
Autosomal Agammaglobulinemia
Sinusitis, Recurrent infections, Recurrent skin infections, Agammaglobulinemia, Arthritis, Cough,... ORPHA:33110
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Recurrent viral infections, Recurrent bacterial infections, Decreased circulating IgA level, Seve... OMIM:606367
Ciliary Dyskinesia, Primary, 15
Recurrent otitis media, Recurrent pneumonia, Infertility, Chronic bronchitis, Cough, Rhinorrhea, ... OMIM:613808
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Reduced delayed hypersensi... OMIM:242700
Aspergillosis
Hepatitis, Keratitis, Hypersensitivity pneumonitis, Invasive pulmonary aspergillosis, Infectious ... ORPHA:1163
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent upper respiratory tra... OMIM:616100
Agammaglobulinemia, X-Linked
Decreased circulating IgG level, Recurrent otitis media, Agammaglobulinemia, Prostatitis, Recurre... OMIM:300755
Immunodeficiency 43
Recurrent respiratory infections, Decreased circulating IgG level, Bronchiectasis OMIM:241600
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Secondary amenorrhea, Ele... OMIM:619203
Immunodeficiency 58
Recurrent aphthous stomatitis, Esophagitis, Chronic mucocutaneous candidiasis, Recurrent pneumoni... OMIM:618131
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Partial absence of ... OMIM:618986
46,Xx Ovotesticular Disorder Of Sex Development
Small scrotum, Polycystic ovaries, Abnormal morphology of female internal genitalia, Cryptorchidi... ORPHA:2138
Immunodeficiency 60 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgG level, Crohn's disease, Decreased circ... OMIM:618394
Tularemia
Pneumonia, Erythema nodosum, Inflammatory abnormality of the eye, Cutaneous abscess, Cough, Menin... ORPHA:3392
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgG level, Recurrent otitis media, Uveitis, Conjunctivitis, Recurrent pneum... OMIM:614700
Ciliary Dyskinesia, Primary, 34
Chronic rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Recurrent bronchitis, Recurrent s... OMIM:617091
Immunodeficiency 81
Reduced antigen-specific T cell proliferation, Recurrent infections, Impaired neutrophil chemotax... OMIM:619374
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Hypergonadotropic hypogonadism, Ovarian cyst OMIM:613546
Premature Ovarian Failure 8
Primary amenorrhea, Elevated circulating luteinizing hormone level, Ovarian neoplasm, Elevated ci... OMIM:615723
Ciliary Dyskinesia, Primary, 7
Recurrent otitis media, Restrictive ventilatory defect, Reduced FEV1/FVC ratio, Recurrent pneumon... OMIM:611884
Whim Syndrome
Sinusitis, Recurrent pneumonia, Recurrent upper respiratory tract infections, Pneumonia, Lymphade... ORPHA:51636
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615505
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Recurrent otitis media, Bronchiectasis, Eczema, Recurrent respiratory infections, Keratitis, Incr... OMIM:618523
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgG level, Recurrent pneumonia, Recurrent upper respiratory tract infection... OMIM:619752
Diethylstilbestrol Syndrome
Epididymal cyst, Decreased fertility in females, Cryptorchidism, Micropenis, Abnormality of the u... ORPHA:1916
Ciliary Dyskinesia, Primary, 24
Sinusitis, Infertility, Ciliary dyskinesia, Bronchiectasis, Recurrent sinusitis, Rhinitis OMIM:615481
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Chronic bronchitis, Reduced sperm motility, Cough, Rhinorrhea, Ciliary dyski... OMIM:613807
Ciliary Dyskinesia, Primary, 5
Recurrent otitis media, Recurrent pneumonia, Respiratory insufficiency due to defective ciliary c... OMIM:608647
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, Recurrent pneumonia, Sinusitis, Pneumonia, Recurrent viral infec... OMIM:102700
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter, Premature ovarian insufficiency, Secondary amenorrhea OMIM:617175
Ciliary Dyskinesia, Primary, 20
Recurrent otitis media, Recurrent pneumonia, Respiratory insufficiency due to defective ciliary c... OMIM:615067
Complement Factor H Deficiency
Recurrent bacterial infections OMIM:609814
Pgm3-Cdg
Esophagitis, Recurrent pneumonia, Recurrent skin infections, Increased circulating IgA level, Ecz... ORPHA:443811
Ciliary Dyskinesia, Primary, 13
Immotile cilia, Recurrent otitis media, Infertility, Bronchiectasis, Recurrent bronchitis, Recurr... OMIM:613193
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Premature Ovarian Failure 10
Primary amenorrhea, Azoospermia, Elevated circulating luteinizing hormone level, Elevated circula... OMIM:612885
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Chronic otitis media, Abnormal muc... OMIM:619466
Immunodeficiency 25
Recurrent pneumonia, Increased circulating IgG level, Complete or near-complete absence of specif... OMIM:610163
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Recurrent otitis media, Recurrent infections, Recurrent skin infections, Bronchiectasis, Eczema, ... OMIM:618282
Isolated Agammaglobulinemia
Sinusitis, Pneumonia, Inflammatory abnormality of the eye, Meningitis, Recurrent respiratory infe... ORPHA:229717
Ciliary Dyskinesia, Primary, 22
Immotile cilia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary cleara... OMIM:615444
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Amenorrhea, Abnormality of the ovary, Menorrhagia, Abnormality of the urethra... ORPHA:2795
Granulomatous Disease, Chronic, X-Linked
Recurrent Staphylococcus aureus infections, Recurrent pneumonia, Lymphadenitis, Recurrent Aspergi... OMIM:306400
Ciliary Dyskinesia, Primary, 12
Chronic rhinitis, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Immotile ... OMIM:612650
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Partial Ig... ORPHA:35078
Idiopathic Achalasia
Recurrent aspiration pneumonia, Cough, Wheezing, Bronchitis ORPHA:930
Gonadoblastoma
Abnormality of the ovary, Ovarian gonadoblastoma, Gonadal calcification, Ambiguous genitalia, Fem... ORPHA:206484
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Female infertility, Premature ovarian insufficiency OMIM:619518
Ciliary Dyskinesia, Primary, 19
Immotile cilia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary cleara... OMIM:614935
Tracheobronchopathia Osteochondroplastica
Recurrent pneumonia, Pneumonia, Atelectasis, Recurrent respiratory infections, Productive cough, ... ORPHA:3348
Immunodeficiency 23
Recurrent Staphylococcus aureus infections, Increased circulating IgG level, Increased circulatin... OMIM:615816
Primary Ciliary Dyskinesia
Recurrent otitis media, Airway obstruction, Chronic rhinitis, Recurrent mycobacterial infections,... ORPHA:244
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Upper airway obstruction, Respiratory distress, Dyspnea ORPHA:141152
Pulmonary Alveolar Proteinosis, Acquired
Restrictive ventilatory defect, Pneumonia, Hypoxemia, Lung abscess, Intraalveolar phospholipid ac... OMIM:610910
Complement Factor I Deficiency
Recurrent otitis media, Pyelonephritis, Recurrent skin infections, Glomerulonephritis, Recurrent ... OMIM:610984
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent bacterial in... ORPHA:169090
Immunodeficiency 11B With Atopic Dermatitis
Asthma, Atopic dermatitis, Pneumonia OMIM:617638
Leukocyte Adhesion Deficiency
Recurrent tonsillitis, Recurrent aphthous stomatitis, Vaginitis, Recurrent urinary tract infectio... ORPHA:2968
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy OMIM:183350
Immunodeficiency 27A
Increased circulating IgG level, Pneumonia, Increased circulating IgM level, Increased inflammato... OMIM:209950
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased circulating total IgM, Sinusitis, Recurrent upper respiratory tract infections, Pneumon... OMIM:600903
Immunodeficiency 75
Recurrent respiratory infections, Persistent EBV viremia, Bronchiectasis OMIM:619126
Autosomal Dominant Severe Congenital Neutropenia
Recurrent skin infections, Recurrent ear infections, Recurrent viral infections, Pneumonia, Perio... ORPHA:486
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Microlissencephaly
Pneumonia ORPHA:1083
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Increased circulating IgM level, Eczema, Bronchiol... OMIM:617241
Immunodeficiency 65, Susceptibility To Viral Infections
Recurrent gastroenteritis, Stomatitis, Recurrent viral infections, Bronchiectasis OMIM:618648
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating total IgM, Recurrent ear infections, Recurrent viral infections, Decreased ... ORPHA:221139
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Bloom Syndrome
Decreased circulating IgG level, Uveitis, Recurrent tonsillitis, Oligospermia, Recurrent urinary ... ORPHA:125
Neonatal Alloimmune Neutropenia
Pneumonia, Severe infection, Miscarriage, Meningitis, Sepsis ORPHA:464370
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Amenorrhea, Female infertility, Premature ovarian insufficiency, Increase... OMIM:110100
Immunodeficiency 13
Recurrent otitis media, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronch... OMIM:615518
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Cleft Velum
Aspiration pneumonia, Recurrent otitis media ORPHA:99772
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypoxemia, Tachypnea, Respiratory failure, Respiratory tract infection, Atelectasis, S... ORPHA:70587
Staphylococcal Necrotizing Pneumonia
Nonproductive cough, Pulmonary pneumatocele, Pneumonia, Hypoxemia, Severe infection, Tachypnea, R... ORPHA:36238
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Tachypnea, Spontaneous pneumothorax, Recurrent pneumonia, Interstitial pneumonitis, Co... OMIM:610913
Postinfectious Vasculitis
Viral hepatitis, Gastrointestinal inflammation, Severe cytomegalovirus infection, Invasive fungal... ORPHA:48435
Melioidosis
Pneumonia, Unusual skin infection, Lung abscess, Parotitis, Cutaneous abscess, Prostatitis, Osteo... ORPHA:31202
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Chronic rhinitis, Dyspnea, Atelectasis, Bronchiecta... ORPHA:922
Vici Syndrome
Decreased T cell activation, Decreased circulating IgG level, Recurrent viral infections, Recurre... OMIM:242840
Riddle Syndrome
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Pneumonia,... ORPHA:420741
Acute Lung Injury
Acute pancreatitis, Pneumonia, Hypoxemia, Diffuse alveolar hemorrhage, Tachypnea, Respiratory fai... ORPHA:178320
Immunodeficiency 77
Cutaneous abscess, Recurrent tonsillitis, Bronchiectasis, Chronic pulmonary obstruction, Nontuber... OMIM:619223
Bare Lymphocyte Syndrome, Type I
Emphysema, Bronchiolitis, Bronchiectasis, Recurrent bronchitis, Chronic otitis media, Chronic sin... OMIM:604571
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Chronic bronchitis, Increased circulating IgM level, Decreased circulating ... OMIM:242860
Aromatase Deficiency
Primary amenorrhea, Cryptorchidism, Ambiguous genitalia, female, Enlarged polycystic ovaries, Mac... ORPHA:91
Common Variable Immunodeficiency
Emphysema, Restrictive ventilatory defect, Pneumonia, Decreased circulating antibody level, Recur... ORPHA:1572
Rigid Spine Syndrome
Respiratory insufficiency, Pneumonia, Abnormality on pulmonary function testing ORPHA:97244
Ciliary Dyskinesia, Primary, 35
Chronic rhinitis, Cough, Bronchiectasis, Recurrent respiratory infections, Chronic sinusitis OMIM:617092
Ciliary Dyskinesia, Primary, 30
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:616037
Ciliary Dyskinesia, Primary, 2
Immotile cilia, Sinusitis, Infertility, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory... OMIM:606763
Specific Granule Deficiency 2
Recurrent otitis media, Recurrent bacterial infections, Recurrent pneumonia, Sepsis OMIM:617475
Omenn Syndrome
Pneumonia, Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infection... OMIM:603554
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Chronic rhinitis, Neonatal respiratory distress, Br... OMIM:618699
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
Good Syndrome
Sinusitis, Recurrent skin infections, Decreased circulating antibody level, Cough, Dyspnea, Bronc... ORPHA:169105
Cholesterol Pneumonia
Tachypnea, Pneumonia, Cough OMIM:215030
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Recurrent infections, Pneumonia, Decreased circulating antibody level, Pulmonary embolism OMIM:226300
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Decreased circulating ant... OMIM:615952
Hypocomplementemic Urticarial Vasculitis
Emphysema, Restrictive ventilatory defect, Uveitis, Airway obstruction, Arthritis, Inflammatory a... ORPHA:36412
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Ov... ORPHA:314478
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Red... ORPHA:79127
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Recurrent bacterial infections OMIM:610738
Ciliary Dyskinesia, Primary, 38
Infertility, Cough, Bronchiectasis, Rhinitis, Chronic otitis media, Neonatal respiratory distress... OMIM:618063
Interstitial Lung Disease 1
Restrictive ventilatory defect, Elevated bronchoalveolar lavage fluid neutrophil proportion, Nons... OMIM:619611
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Respiratory failure, Cough, Dyspnea, Aspirati... ORPHA:90117
Hermansky-Pudlak Syndrome 2
Recurrent abscess formation, Recurrent otitis media, Recurrent pneumonia, Impaired ADP-induced pl... OMIM:608233
Ciliary Dyskinesia, Primary, 1
Immotile cilia, Pneumonia, Chronic rhinitis, Ciliary dyskinesia, Recurrent bronchitis, Bronchiect... OMIM:244400
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Honeycomb lung, Crackles, Cough, Bronchiectasis, Exertional ... ORPHA:2032
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Recurrent bacterial infections, Decreased platelet glycoprotein Ib OMIM:603585
Ciliary Dyskinesia, Primary, 17
Chronic rhinitis, Cough, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Ch... OMIM:614679
Adult Acute Respiratory Distress Syndrome
Pneumonia, Hypoxemia, Respiratory failure, Dyspnea, Sepsis, Pancreatitis, Abnormal blood gas leve... ORPHA:70578
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Chronic bronchitis, Bronchiectasis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Chronic bronchitis, Bronchiectasis OMIM:211400
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Chronic bronchitis, Bronchiectasis OMIM:613021
X-Linked Centronuclear Myopathy
Recurrent respiratory infections, Respiratory failure requiring assisted ventilation, Pneumonia, ... ORPHA:596
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Crohn's disease, Decreased circulating total IgM, Agammaglobulin... OMIM:619705
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Membranous nephropathy, Hepatitis, Inflammatory abnormality of the skin, Crusting erythematous de... ORPHA:37042
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent abscess formation, Recurrent ear infections, Recurrent viral infections, Pulmonary hemo... ORPHA:79124
Pulmonary Non-Tuberculous Mycobacterial Infection
Disseminated nontuberculous mycobacterial infection, Crackles, Cough, Pleural effusion, Bronchiec... ORPHA:411703
Fusariosis
Sinusitis, Hypersensitivity pneumonitis, Myositis, Pneumonia, Lung abscess, Arthritis, Peritoniti... ORPHA:228119
Hymen, Imperforate
Hydrocolpos, Amenorrhea, Hematocolpos, Imperforate hymen OMIM:237100
Obesity Due To Congenital Leptin Deficiency
Decreased T cell activation, Recurrent upper respiratory tract infections, Primary amenorrhea, Hy... ORPHA:66628
Leukocyte Adhesion Deficiency, Type I
Periodontitis, Recurrent bacterial infections, Recurrent staphylococcal infections, Osteomyelitis... OMIM:116920
Avian Influenza
Nonproductive cough, Pneumonia, Hypoxemia, Infectious encephalitis, Tachypnea, Respiratory failur... ORPHA:454836
Bacterial Toxic-Shock Syndrome
Severe infection, Tachypnea, Recurrent urinary tract infections, Hepatitis, Fasciitis, Skin rash,... ORPHA:36234
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal labi... ORPHA:251510
Leukocyte Adhesion Deficiency, Type Iii
Recurrent bacterial infections, Recurrent skin infections, Sepsis, Epistaxis OMIM:612840
Obesity Due To Leptin Receptor Gene Deficiency
Decreased T cell activation, Recurrent upper respiratory tract infections, Primary amenorrhea, Hy... ORPHA:179494
Q Fever
Pneumonia, Unusual infection, Infectious encephalitis, Maculopapular exanthema, Cholecystitis, My... ORPHA:781
Timothy Syndrome
Recurrent infections, Pneumonia, Bronchitis OMIM:601005
Complement Component 5 Deficiency
Recurrent meningococcal disease, Generalized seborrheic dermatitis OMIM:609536
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent otitis media, Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurr... ORPHA:293978
Simpson-Golabi-Behmel Syndrome, Type 2
Recurrent upper respiratory tract infections, Pneumonia OMIM:300209
Bronchogenic Cyst
Bronchogenic cyst, Pneumonia, Chronic infection, Abnormal pleura morphology, Pulmonary cyst, Coug... ORPHA:2357
Tetragametic Chimerism
Perineal hypospadias, Ovotestis, Cryptorchidism, Abnormality of the ovary, Micropenis, True herma... ORPHA:199310
Hereditary Pulmonary Alveolar Proteinosis
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Hypoxemia, Cr... ORPHA:264675
Immunodeficiency 10
Recurrent infections, Recurrent bacterial infections OMIM:612783
Severe Acute Respiratory Syndrome
Respiratory failure requiring assisted ventilation, Hypoxemia, Cough, Dyspnea, Chronic lung disea... ORPHA:140896
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Decreased fertility, Polycystic ovaries, Elevated circulating luteinizi... ORPHA:572333
Satoyoshi Syndrome
Amenorrhea, Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the uterus, Hypopl... ORPHA:3130
Ciliary Dyskinesia, Primary, 16
Chronic rhinitis, Ciliary dyskinesia, Bronchiectasis, Chronic otitis media, Abnormal ciliary moti... OMIM:614017
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure OMIM:619057
Bloom Syndrome
Decreased fertility in females, Decreased circulating IgG level, Decreased circulating total IgM,... OMIM:210900
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent infections, Recurrent pneumonia, Recurrent aphthous stomatitis, Bronchiectasis, Chronic... OMIM:150550
Nocardiosis
Severe infection, Scleritis, Productive cough, Keratitis, Conjunctivitis, Emphysema, Infectious e... ORPHA:31204
Immunodeficiency 21
Recurrent mycobacterium avium complex infections, Recurrent viral infections, Recurrent fungal in... OMIM:614172
Sarcoidosis, Susceptibility To, 2
Emphysema, Restrictive ventilatory defect, Uveitis, Hypoxemia, Erythema nodosum, Elevated broncho... OMIM:612387
Sporadic Creutzfeldt-Jakob Disease
Recurrent infections, Respiratory failure requiring assisted ventilation, Recurrent aspiration pn... ORPHA:204
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased fertility in females, Primary amenorrhea, Hypoplasia of the vagina, Polycystic ovaries,... ORPHA:90796
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Cough, Bronchiectasis OMIM:619468
Lymphoid Interstitial Pneumonia
Restrictive ventilatory defect, Hypoxemia, Crackles, Subpleural interstitial thickening, Respirat... ORPHA:79128
Ciliary Dyskinesia, Primary, 37
Infertility, Chronic rhinitis, Rhinorrhea, Bronchiectasis, Wheezing OMIM:617577
Chédiak-Higashi Syndrome
Recurrent infections, Abnormal platelet function, Recurrent streptococcal infections, Periodontit... ORPHA:167
Yellow Nail Syndrome
Sinusitis, Cough, Bronchiectasis, Dyspnea, Recurrent respiratory infections, Neoplasm of the lung... ORPHA:662
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Tachypnea, Nodular pattern on pulmonary HRCT, Crazy paving pattern, Honeycomb lung, Co... OMIM:610921
Graft Versus Host Disease
Recurrent infections, Myositis, Pneumonia, Gastrointestinal inflammation, Inflammatory abnormalit... ORPHA:39812
Ataxia-Telangiectasia
Decreased circulating IgG level, Sinusitis, Female hypogonadism, Defective B cell differentiation... OMIM:208900
Immunodeficiency 47
Decreased circulating total IgM, Recurrent infections, Chronic decreased circulating total IgG, D... OMIM:300972
Wiskott-Aldrich Syndrome
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Recurrent upper res... OMIM:301000
Coccidioidomycosis
Invasive fungal infection, Pancreatitis, Coccidioidal meningitis, Exudative pleural effusion, Ski... ORPHA:228123
Hereditary Orotic Aciduria
Recurrent respiratory infections, Impaired T cell function ORPHA:30
Brucellosis
Sacroiliac arthritis, Arteritis, Epididymitis, Bronchitis, Hip osteoarthritis, Lung abscess, Infe... ORPHA:1304
Chediak-Higashi Syndrome
Recurrent infections, Periodontitis, Spontaneous, recurrent epistaxis, Impaired neutrophil bacter... OMIM:214500
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Decreased T cell activation, Increased circulating IgG level, Severe varicella zoster infection, ... OMIM:618213
Panbronchiolitis, Diffuse
Hypoxemia, Crackles, Cough, Bronchiectasis, Rhonchi, Wheezing OMIM:604809
Immunodeficiency 82 With Systemic Inflammation
Recurrent abscess formation, Recurrent otitis media, Recurrent infections, Decreased circulating ... OMIM:619381
Mirage Syndrome
Recurrent bacterial infections, Recurrent urinary tract infections, Sepsis, Aspiration pneumonia,... OMIM:617053
Acute Interstitial Pneumonia
Nonproductive cough, Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Tachypnea, R... ORPHA:79126
Congenital Tracheomalacia
Tracheomalacia, Productive cough, Wheezing, Emphysema, Recurrent upper respiratory tract infectio... ORPHA:95430
Mannosidosis, Alpha B, Lysosomal
Recurrent bacterial infections, Decreased circulating antibody level OMIM:248500
Microsporidiosis
Cholangitis, Prostatitis, Hepatitis, Pancreatitis, Keratitis, Bronchitis, Infectious encephalitis... ORPHA:2552
Nijmegen Breakage Syndrome
Sinusitis, Recurrent pneumonia, Dysgammaglobulinemia, Recurrent bronchitis, Bronchiectasis, Recur... OMIM:251260
Meconium Aspiration Syndrome
Hypoxemia, Atelectasis, Pulmonary arterial hypertension, Neonatal asphyxia, Pneumothorax, Respira... ORPHA:70588
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hypogonadism, Recurrent candida infections, Impaired T cell function OMIM:201100
Mohr-Tranebjaerg Syndrome
Aspiration pneumonia, Agammaglobulinemia ORPHA:52368
Shwachman-Diamond Syndrome
Sinusitis, Pneumonia, Impaired neutrophil chemotaxis, Bone marrow hypocellularity, Recurrent vira... ORPHA:811
Slc35A1-Cdg
Pulmonary hemorrhage, Pneumonia, Hypoxemia, Respiratory distress ORPHA:238459
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Listeriosis
Arteritis, Conjunctivitis, Pyelonephritis, Unusual skin infection, Infectious encephalitis, Myoca... ORPHA:533
Alpha-Mannosidosis, Adult Form
Recurrent infections, Recurrent gastroenteritis, Pneumonia ORPHA:309288
Chromomycosis
Keratitis, Keratoconjunctivitis sicca, Abnormal lung morphology, Recurrent bacterial infections ORPHA:182
Progeroid Short Stature With Pigmented Nevi
Chordee, Recurrent viral infections, Allergic conjunctivitis, Impaired T cell function, Allergic ... OMIM:176690
Congenital Disorder Of Glycosylation, Type Iil
Recurrent infections, Inflammation of the large intestine, Impaired T cell function, Decreased sp... OMIM:614576
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent bacterial infections, Pulmonary arterial hypertension, Recurrent respiratory infections... OMIM:612541
Omenn Syndrome
Thyroiditis, Pneumonia, Sepsis, Erythroderma ORPHA:39041
Sarcoidosis, Susceptibility To, 1
Emphysema, Restrictive ventilatory defect, Uveitis, Hypoxemia, Abnormality of T cell physiology, ... OMIM:181000
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Sepsis ORPHA:231154
Oculopharyngodistal Myopathy
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Recurrent aspir... ORPHA:98897
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn... ORPHA:98905
Drug Reaction With Eosinophilia And Systemic Symptoms
Infectious encephalitis, Interstitial pneumonitis, Myocarditis, Cough, Tubulointerstitial nephrit... ORPHA:139402
Mucoepithelial Dysplasia, Hereditary
Recurrent pneumonia, Fibrocystic lung disease, Pneumonia, Rhinorrhea, Keratoconjunctivitis, Chron... OMIM:158310
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Recurrent bacterial infections, Increased pulmonary vascular resistance, Dyspnea, Pulm... ORPHA:99104
Sickle Cell Anemia
Priapism, Recurrent bacterial infections, Hypoxemia OMIM:603903
Igg4-Related Kidney Disease
Prostatitis, Arteritis, Membranous nephropathy, Inflammatory abnormality of the skin, Pancreatiti... ORPHA:449395
Cryptococcosis
Pneumonia, Peritonitis, Prostatitis, Cough, Meningitis, Pleural effusion, Dyspnea, Osteomyelitis,... ORPHA:1546
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia OMIM:253700
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Tachypnea, Pulmonary arterial ... ORPHA:217563
Atrial Septal Defect, Ostium Secundum Type
Pneumonia, Airway obstruction, Recurrent bacterial infections, Increased pulmonary vascular resis... ORPHA:99103
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Recurrent infections, Recurrent aspiration pneumonia ORPHA:79243
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Aspiration pneumonia, Episodic tachypnea ORPHA:79264
Kenny-Caffey Syndrome, Type 1
Recurrent bacterial infections OMIM:244460
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Recurrent bacterial infections OMIM:241410
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Recurrent pneumonia, Respiratory distress, Hypoventilation, Aspiration pneumonia ORPHA:314655
Bronchial Neuroendocrine Tumor
Nonproductive cough, Pneumonia, Asthma, Abnormal pulmonary interstitial morphology, Dyspnea, Bron... ORPHA:97287
Spondyloenchondrodysplasia
Recurrent infections, Pneumonia, Hepatitis, Skin rash, Arthritis, Juvenile rheumatoid arthritis ORPHA:1855
Immunodeficiency 87 And Autoimmunity
Abnormal lymphocyte proliferation, Recurrent viral infections, Severe cytomegalovirus infection, ... OMIM:619573
Zygomycosis
Invasive fungal infection, Hepatitis, Pancreatitis, Fasciitis, Acute infectious pneumonia, Unusua... ORPHA:73263
Hennekam-Beemer Syndrome
Respiratory insufficiency, Mastocytosis, Pneumonia ORPHA:2135
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent otitis media, Restrictive ventilatory defect, Pneumonia, Rheumatoid arthritis, Recurren... OMIM:607944
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Irregular menstruation, Menorrhagia, Periodontitis, Recurrent bacterial infections, Inflammation ... ORPHA:79259
Pulmonary Alveolar Microlithiasis
Nonproductive cough, Decreased fertility, Restrictive ventilatory defect, Hypoxemia, Pleural thic... ORPHA:60025
Shigellosis
Uveitis, Pneumonia, Arthritis, Peritonitis, Myocarditis, Acute colitis, Sepsis, Ulcerative coliti... ORPHA:810
Roifman-Chitayat Syndrome
Pneumonia, Arthritis OMIM:613328
Lysinuric Protein Intolerance
Intraalveolar phospholipid accumulation, Recurrent bacterial infections, Glomerulonephritis, Decr... ORPHA:470
Gaucher Disease, Type Ii
Apnea, Recurrent aspiration pneumonia OMIM:230900
Velocardiofacial Syndrome
Recurrent infections, Pulmonary artery atresia, Impaired T cell function, Unilateral primary pulm... OMIM:192430
Infection-Related Hemolytic Uremic Syndrome
Pneumonia, Severe infection, Myocarditis, Respiratory tract infection, Meningitis, Acute colitis,... ORPHA:544482
Insulin-Resistance Syndrome Type B
Increased circulating IgG level, Pneumonia, Increased circulating IgA level, Osteoarthritis, Neph... ORPHA:2298
Infantile Systemic Hyalinosis
Recurrent bacterial infections ORPHA:2176
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Pneumonia, Sepsis, Skin rash ORPHA:247691
Hypoplasminogenemia
Abnormality of the ovary, Cervicitis, Abnormal fallopian tube morphology ORPHA:722
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Glycogen Storage Disease Ib
Gout, Recurrent bacterial infections, Pancreatitis OMIM:232220
Proximal Spinal Muscular Atrophy
Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency due to muscle weak... ORPHA:70
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Aspiration pneumonia, Central sleep apnea, Pancreatitis ORPHA:431361
Cystic Fibrosis
Recurrent pneumonia, Reduced forced expiratory volume in one second, Asthma, Reduced forced vital... OMIM:219700
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Severe infection, Hypercapnia, Res... ORPHA:79138
Gm1 Gangliosidosis
Infectious encephalitis, Aspiration pneumonia, Recurrent respiratory infections ORPHA:354
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Cough ORPHA:216866
Tenorio Syndrome
Apnea, Stomatitis, Pneumonia, Keratoconjunctivitis sicca OMIM:616260
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Cough, Dyspnea, Tracheobronchial leiomyomatosis, Recurrent respiratory infections, Keratitis, Asp... ORPHA:1018
Infantile Neuroaxonal Dystrophy
Aspiration pneumonia, Apneic episodes in infancy ORPHA:35069
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Episodic tachypnea, Tachypnea, Respiratory distress, Inflammatory abnormality of the skin ORPHA:26793
Fanconi Anemia, Complementation Group F
Pneumonia, Bone marrow hypocellularity OMIM:603467
Hemorrhagic Fever-Renal Syndrome
Acute tubulointerstitial nephritis, Pneumonia, Severe infection, Respiratory failure, Glomerulone... ORPHA:340
Orotic Aciduria
Impaired T cell function OMIM:258900
Geleophysic Dysplasia 3
Sleep apnea, Respiratory failure, Pneumonia, Dyspnea OMIM:617809
Severe Generalized Junctional Epidermolysis Bullosa
Recurrent skin infections, Pneumonia, Gastrointestinal inflammation, Respiratory failure, Dyspnea... ORPHA:79404
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Neonatal sepsis, Pneumonia ORPHA:90790
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Pneumonia, Unusual skin infection, Infectious encephalitis, Respiratory tract infectio... ORPHA:68
Alpha-Mannosidosis, Infantile Form
Recurrent infections, Pneumonia, Recurrent gastroenteritis, Recurrent urinary tract infections, O... ORPHA:309282
Turner Syndrome Due To Structural X Chromosome Anomalies
Primary amenorrhea, Abnormality of the ovary, Gonadoblastoma, Secondary amenorrhea, Female infert... ORPHA:99413
Turner Syndrome
Primary amenorrhea, Abnormality of the ovary, Gonadoblastoma, Secondary amenorrhea, Female infert... ORPHA:881
Mosaic Monosomy X
Primary amenorrhea, Abnormality of the ovary, Gonadoblastoma, Secondary amenorrhea, Female infert... ORPHA:99228
Monosomy X
Primary amenorrhea, Abnormality of the ovary, Gonadoblastoma, Secondary amenorrhea, Female infert... ORPHA:99226
Chops Syndrome
Aspiration pneumonia, Chronic lung disease OMIM:616368
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent pneumonia, Recurrent aspiration pneumonia OMIM:300472
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent infections, Blepharitis, Uveitis, Scleritis, Recurrent bacterial infections, Episclerit... ORPHA:2273
Adult-Onset Autosomal Dominant Leukodystrophy
Erectile dysfunction, Aspiration pneumonia, Impotence, Recurrent urinary tract infections ORPHA:99027
Mercury Poisoning
Respiratory failure, Interstitial pneumonitis, Respiratory distress, Dyspnea ORPHA:330021
Arnold-Chiari Malformation Type Ii
Apnea, Pneumonia, Inspiratory stridor ORPHA:1136
Cholera
Aspiration pneumonia, Tachypnea, Hyperventilation, Miscarriage ORPHA:173
Mucopolysaccharidosis Type 3
Recurrent tonsillitis, Respiratory tract infection, Upper airway obstruction, Obstructive sleep a... ORPHA:581
Dyskeratosis Congenita, Autosomal Dominant 1
Interstitial pneumonitis, Bone marrow hypocellularity, Pulmonary fibrosis OMIM:127550
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Marshall-Smith Syndrome
Recurrent upper respiratory tract infections, Airway obstruction, Pulmonary arterial hypertension... OMIM:602535
Congenital Fiber-Type Disproportion Myopathy
Hypoxemia, Hypercapnia, Respiratory failure, Recurrent respiratory infections, Respiratory insuff... ORPHA:2020
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Tachypnea, Recurrent respiratory infections, Chronic lung disease, Apnea, Recurrent aspiration pn... ORPHA:397715
Plague
Lymphadenitis, Erythema nodosum, Inflammatory abnormality of the eye, Meningitis, Inflammation of... ORPHA:707
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia OMIM:258865
Degcags Syndrome
Recurrent infections, Pneumonia, Tracheomalacia, Chordee, Asthma, Pulmonary arterial hypertension... OMIM:619488
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory failure requiring assisted ventilation, Pneumonia, Gastrointestinal inflammation, Cou... ORPHA:95455
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Psoriasiform dermatitis, Abnormality of T cell physiology ORPHA:2237
Neuroleptic Malignant Syndrome
Aspiration pneumonia, Sepsis, Pulmonary embolism ORPHA:94093
Cornelia De Lange Syndrome 1
Pneumonia, Otitis media OMIM:122470
Coffin-Siris Syndrome
Aspiration pneumonia, Recurrent infections, Recurrent upper respiratory tract infections ORPHA:1465
Digeorge Syndrome
Recurrent otitis media, Recurrent pneumonia, Recurrent infections, Asthma, Acne, Impaired T cell ... OMIM:188400
Gm1 Gangliosidosis Type 1
Aspiration pneumonia ORPHA:79255
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pneumonia, Asthma, Recurrent respiratory infections, Obstructive sleep apnea, Recurrent urinary t... ORPHA:353281
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Recurrent aspiration pneumonia ORPHA:73230
Tay-Sachs Disease
Aspiration pneumonia ORPHA:845
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Restrictive ventilatory defect, Apnea, Aspiration pneumonia, Hypopnea OMIM:619482
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections, Osteomyelitis, Fasciitis, Septic arthritis, Recurrent... ORPHA:642
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Tracheomalacia, Asthma, Sleep apnea, Pulmonary arterial hypertension, Chronic lung disease, Aspir... ORPHA:444077
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Pneumonia, Aspiration, Asthma, Recurrent respiratory infections, Obstructive sleep apnea, Recurre... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Pneumonia, Aspiration, Asthma, Recurrent respiratory infections, Obstructive sleep apnea, Recurre... ORPHA:353277
Miller-Dieker Lissencephaly Syndrome
Recurrent aspiration pneumonia OMIM:247200
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Pulmonary arterial hypertension, Blepharitis, Recurrent aspiration pneumonia, Peripheral pulmonar... ORPHA:280633
Opitz Gbbb Syndrome
Stridor, Recurrent aspiration pneumonia, Tracheomalacia ORPHA:2745
Niemann-Pick Disease Type C
Aspiration pneumonia, Respiratory insufficiency, Abnormal lung morphology, Respiratory failure ORPHA:646
Semilobar Holoprosencephaly
Aspiration pneumonia, Chronic lung disease, Abnormal pattern of respiration, Central apnea ORPHA:220386
Alobar Holoprosencephaly
Aspiration pneumonia, Chronic lung disease, Abnormal pattern of respiration, Central apnea ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Aspiration pneumonia, Chronic lung disease, Abnormal pattern of respiration, Central apnea ORPHA:93926
Lobar Holoprosencephaly
Aspiration pneumonia, Chronic lung disease, Abnormal pattern of respiration, Central apnea ORPHA:93924
Fontaine Progeroid Syndrome
Pulmonary arterial hypertension, Pneumothorax, Respiratory insufficiency, Recurrent aspiration pn... OMIM:612289
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Central sleep apnea, Obstructive sleep apnea, Breathing dysregulation, Apnea, As... ORPHA:438213
Kabuki Syndrome 1
Recurrent otitis media, Recurrent aspiration pneumonia, Recurrent infections OMIM:147920
Doors Syndrome
Aspiration pneumonia, Respiratory distress ORPHA:79500
Lafora Disease
Recurrent aspiration pneumonia ORPHA:501
Pmm2-Cdg
Hypogonadotropic hypogonadism, Impaired neutrophil chemotaxis, Respiratory distress, Pericarditis... ORPHA:79318
Yunis-Varon Syndrome
Pulmonary arterial hypertension, 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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