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Gene: Tmprss2 MGI:1354381

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Gene Summary

Name:
transmembrane protease, serine 2
Synonyms:
D16Ertd61e,  epitheliasin

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal auditory brainstem response Tmprss2tm2b(EUCOMM)Hmgu HOM   Early adult 5.75×10-09
abnormal contextual conditioning behavior Tmprss2tm2b(EUCOMM)Hmgu HOM Early adult 4.02×10-06
improved glucose tolerance Tmprss2tm2b(EUCOMM)Hmgu HOM Early adult 1.14×10-05
increased circulating total protein level Tmprss2tm2b(EUCOMM)Hmgu HOM Early adult 1.17×10-05
decreased cardiac muscle contractility Tmprss2tm2b(EUCOMM)Hmgu HOM Early adult 6.08×10-05
increased fasting circulating glucose level Tmprss2tm2b(EUCOMM)Hmgu HOM Early adult 1.64×10-05

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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.

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

6 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

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Human diseases caused by Tmprss2 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 Tmprss2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Prostatic Hyperplasia, Benign
Benign prostatic hyperplasia OMIM:600082
Prostate Cancer, Hereditary, 1
Prostate cancer OMIM:601518
Prostate Cancer
Prostate cancer OMIM:176807
Prostate Cancer, Hereditary, X-Linked 1
Prostate cancer OMIM:300147
Spermatogenic Failure 44
Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas... OMIM:619044
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:616950
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:108420
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility, Abnormality of the menstrual cycle, Abnormal circulating estrogen level OMIM:619009
Immunodeficiency 51
Chronic oral candidiasis, Recurrent otitis media, Recurrent Staphylococcus aureus infections, Rec... OMIM:613953
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615842
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615841
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Premature Ovarian Failure 17
Decreased circulating inhibin B concentration, Premature ovarian insufficiency, Decreased cirrcul... OMIM:619146
Premature Ovarian Failure 16
Decreased serum estradiol, Reduced antral follicle count, Premature ovarian insufficiency, Elevat... OMIM:618723
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Gonadal dysgenesis with female appearan... OMIM:273250
Delayed Puberty, Self-Limited
Delayed puberty, Decreased circulating follicle stimulating hormone concentration, Decreased circ... OMIM:619613
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:616030
Young Syndrome
Bronchiectasis, Recurrent bronchitis, Recurrent sinopulmonary infections, Congenital pulmonary ai... OMIM:279000
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypoplasia of the ovary, Decreased serum testosterone concentration, Primary amenorrhea, Decrease... OMIM:618841
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... OMIM:301077
Immunodeficiency 116
Bronchiectasis, Recurrent viral infections, Recurrent bacterial infections, Recurrent respiratory... OMIM:608957
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Mounier-Kühn Syndrome
Pneumonia, Bronchitis, Recurrent respiratory infections, Recurrent bronchopulmonary infections ORPHA:3347
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Delayed puberty, Hypoplasia of the ovary, Decreased circulating gonadotropin concentration, Decre... OMIM:614841
Immunodeficiency 104
Pneumonia, Recurrent otitis media, Failure to thrive secondary to recurrent infections, Chronic m... OMIM:608971
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618014
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Delayed puberty, Decreased response to growth hormone stimulation test, Pneumonia, Pyoderma, Recu... OMIM:307200
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections OMIM:618806
Pituicytoma
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Pituitary hypo... ORPHA:251623
Deafness, Autosomal Recessive 104
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses OMIM:616515
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:614897
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614839
Ciliary Dyskinesia, Primary, 33
Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Recurrent bron... OMIM:616726
Tracheobronchomegaly
Bronchiectasis, Recurrent bronchopulmonary infections OMIM:275300
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypertension, Impaired glucose tol... OMIM:610947
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Increased serum testosterone level,... ORPHA:206484
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis OMIM:615294
Gaisböck Syndrome
Hypertriglyceridemia, Elevated diastolic blood pressure, Hyperuricemia, Angina pectoris, Hyperten... ORPHA:90041
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Decreased circulating luteinizing hormone lev... OMIM:228300
Ciliary Dyskinesia, Primary, 41
Recurrent sinusitis, Recurrent otitis media, Bronchiectasis OMIM:618449
Complement Factor B Deficiency
Recurrent meningococcal disease, Pneumonia, Recurrent bacterial infections, Peritonitis OMIM:615561
Immunodeficiency, Common Variable, 4
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:613494
Ovarian Dysgenesis 7
Delayed puberty, Elevated circulating follicle stimulating hormone level, Elevated circulating lu... OMIM:618117
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Melioidosis
Prostatitis, Acute infectious pneumonia, Foot osteomyelitis, Parotitis, Osteoarthritis, Septic ar... ORPHA:31202
Ciliary Dyskinesia, Primary, 39
Bronchiectasis, Recurrent otitis media, Recurrent lower respiratory tract infections OMIM:618254
Methemoglobinemia And Ambiguous Genitalia
Hypospadias, Scrotal hypospadias, Bifid scrotum, Decreased circulating dehydroepiandrosterone-sul... OMIM:250790
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Azoospermia, Decreased female libido, Delayed menarche, Testicular atrophy, Olig... ORPHA:52901
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Arthrit... OMIM:601457
Ciliary Dyskinesia, Primary, 42
Bronchiectasis, Pneumonia, Recurrent sinusitis, Chronic rhinitis OMIM:618695
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Recurrent Klebsiella infections, Recurrent candida infections, Salmonella osteomyelitis, Lymphade... ORPHA:319552
Combined Immunodeficiency, X-Linked
Recurrent bronchitis, Sinusitis, Decreased circulating IgG level, Otitis media, Pneumonia OMIM:312863
Ciliary Dyskinesia, Primary, 46
Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Bronchiectasis OMIM:619436
Ciliary Dyskinesia, Primary, 9
Chronic otitis media, Pneumonia, Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, B... OMIM:612444
Ovarian Dysgenesis 9
Delayed puberty, Premature ovarian insufficiency, Decreased cirrculating antimullerian hormone ci... OMIM:619665
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Memory impairment, Hypotension, Abnormal autonomic nervous system physiology, C... ORPHA:369873
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Sensorineural hearing impairment, Hypoproteinemia OMIM:221400
Leydig Cell Hypoplasia
Absence of secondary sex characteristics, Testicular gonadoblastoma, Increased circulating gonado... ORPHA:755
Combined Immunodeficiency Due To Dock8 Deficiency
Chronic otitis media, Recurrent candida infections, Increased circulating IgE level, Recurrent ba... ORPHA:217390
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Bronchiectasis, Recurrent bronchiolitis, Chronic bronchitis OMIM:613021
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Gonadal dysgenesis, Abnormal female external genitalia morphology, Male hypogonadism, Hypoplasia ... ORPHA:168563
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Elevated hemoglobin A1c, Diabetic ketoacidosis, Type I diabetes mellitus, Reduced ... OMIM:618858
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... OMIM:616185
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased serum testosterone level, Infertil... OMIM:615962
Ovarian Dysgenesis 10
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating f... OMIM:619834
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Sensorineural hearing impairment,... OMIM:616648
Complete Androgen Insensitivity Syndrome
Delayed puberty, Blind vagina, Increased circulating antimullerian hormone concentration, Abnorma... ORPHA:99429
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Elevated hemoglobin A1c, ... OMIM:616329
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Recurrent ear infections, Decreased specific pneumococcal antibody level, Increased circulating I... OMIM:615513
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent sinusitis, Recurrent pneumonia, Recurrent otitis media, Bronchiectasis OMIM:620032
Premature Ovarian Failure 8
Premature ovarian insufficiency, Ovarian neoplasm, Elevated circulating follicle stimulating horm... OMIM:615723
Premature Ovarian Failure 21
Precocious puberty in females, Secondary amenorrhea, Elevated circulating follicle stimulating ho... OMIM:620311
Charcot-Marie-Tooth Disease, Type 4B1
Facial palsy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials OMIM:601382
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent infections, Decreased circulating antibody level, Recurrent sinusitis, Recurrent pneumo... OMIM:616576
Microsporidiosis
Adrenocortical abnormality, Sinusitis, Myocarditis, Cholangitis, Thyroiditis, Abnormal endometriu... ORPHA:2552
Immunodeficiency, Common Variable, 1
Recurrent otitis media, Recurrent bronchitis, Bronchiectasis, Decreased circulating IgG level, Re... OMIM:607594
Immunodeficiency 65, Susceptibility To Viral Infections
Recurrent gastroenteritis, Bronchiectasis, Recurrent viral infections, Stomatitis OMIM:618648
Severe Combined Immunodeficiency, X-Linked
Chronic oral candidiasis, Decreased circulating IgE, Skin rash, Decreased circulating IgG level, ... OMIM:300400
Ciliary Dyskinesia, Primary, 23
Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasi... OMIM:615451
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Precocious ... ORPHA:90793
Partial Androgen Insensitivity Syndrome
Increased circulating antimullerian hormone concentration, Clitoral hypertrophy, Aplasia of the u... ORPHA:90797
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Recurrent sinusitis, Otitis media OMIM:618781
Immunodeficiency 62
Recurrent lower respiratory tract infections, Complete or near-complete absence of specific antib... OMIM:618459
Immunodeficiency 48
Recurrent candida infections, Panhypogammaglobulinemia, Eczematoid dermatitis, Pneumonia, Recurre... OMIM:269840
Ciliary Dyskinesia, Primary, 3
Recurrent sinusitis, Recurrent respiratory infections, Recurrent otitis media, Bronchiectasis OMIM:608644
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 23 concentration, Pleural thickening, Reduced circulating interle... OMIM:619632
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Hyperglycemia, Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, ... OMIM:610582
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe... OMIM:615504
X-Linked Intellectual Disability, Van Esch Type
Absence of secondary sex characteristics, Retractile testis, Hypergonadotropic hypogonadism, Decr... ORPHA:163976
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Recurrent respiratory infections, Decreased circulating antibody level, Atelectasis OMIM:615872
Ovarian Dysgenesis 5
Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone... OMIM:617690
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Increased circulating androstenedione concentration, Ambiguous genitalia, male, Clitoral hypertro... ORPHA:90791
Testicular Agenesis
Hypoplasia of the uterus, Abnormal vas deferens morphology, Absent external genitalia, Urogenital... ORPHA:325124
Ciliary Dyskinesia, Primary, 36, X-Linked
Chronic otitis media, Recurrent respiratory infections, Recurrent sinusitis, Bronchiectasis OMIM:300991
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Increased circulating IgE level, Atopic dermatitis, Colonic eosinophilia, Bronchiectas... OMIM:617638
Mullerian Aplasia And Hyperandrogenism
Increased circulating androstenedione concentration, Aplasia of the vagina, Increased circulating... OMIM:158330
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus, Reduced C-pe... OMIM:606176
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Increased circulating antibody level, Glomerulonephritis OMIM:247800
Obesity Due To Congenital Leptin Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:66628
46,Xx Sex Reversal 5
Ambiguous genitalia, Urogenital sinus anomaly, Increased serum testosterone level OMIM:618901
Diabetes Mellitus, Permanent Neonatal, 2
Hypsarrhythmia, Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level OMIM:618856
Agammaglobulinemia, X-Linked
Recurrent otitis media, Pyoderma, Prostatitis, Enteroviral hepatitis, Bronchiectasis, Recurrent p... OMIM:300755
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Premature thelarche, D... ORPHA:90795
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Bronchiectasis, Decreased circulating total IgM, Recurrent lower respiratory tract infections, Re... OMIM:615139
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:614842
Ovarian Dysgenesis 8
Decreased cirrculating antimullerian hormone circulation, Elevated circulating follicle stimulati... OMIM:618187
Idiopathic Bronchiectasis
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Respiratory ... ORPHA:60033
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Obesity Due To Leptin Receptor Gene Deficiency
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... ORPHA:179494
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent abscess formation, Chronic oral candidiasis, Recurrent candida infections, Failure to t... ORPHA:169160
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Abnormality... ORPHA:1501
Whim Syndrome 1
Decreased circulating antibody level, Decreased circulating IgG level, Recurrent upper respirator... OMIM:193670
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Premature pubarche, Penoscrotal hypospadias, Hypospadias, Increased circulating dehydroepiandrost... OMIM:201810
Ciliary Dyskinesia, Primary, 45
Bronchiectasis, Recurrent respiratory infections, Chronic rhinitis OMIM:618801
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Recurrent otitis media, Recurrent infections, Herpes simplex encephalitis, Increased circulating ... OMIM:618982
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Chronic otitis media, Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:619466
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency 56
Recurrent otitis media, Cholangitis, Panhypogammaglobulinemia, Recurrent infections, Bronchiectas... OMIM:615207
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Temporal optic disc pallor, Sensorineural hearing impairment, Cardiomyopathy, Abse... ORPHA:1215
Activated Pi3K-Delta Syndrome
Recurrent otitis media, Recurrent tonsillitis, Arthritis, Decreased circulating antibody level, B... ORPHA:397596
Acute Lung Injury
Abnormal circulating cytokine concentration, Sepsis, Abnormal pulmonary interstitial morphology, ... ORPHA:178320
Adult Acute Respiratory Distress Syndrome
Pulmonary edema, Sepsis, Increased circulating interleukin 6 concentration, Pancreatitis, Abnorma... ORPHA:70578
Bare Lymphocyte Syndrome, Type I
Chronic otitis media, Emphysema, Recurrent bronchitis, Bronchiolitis, Bronchiectasis, Chronic sin... OMIM:604571
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Recurrent candida infections, Recurrent infections, Decreased circulating antibody level, Decreas... OMIM:614069
Immunodeficiency With Hyper-Igm, Type 4
Recurrent infection of the gastrointestinal tract, Recurrent upper respiratory tract infections, ... OMIM:608184
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased testicular size, Hypogonadism, Increased circulating gonadotropin level, Cryptorchidism... OMIM:300869
Autosomal Recessive Spastic Paraplegia Type 44
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormality of visual evok... ORPHA:320401
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe... OMIM:615505
Ovarian Fibrothecoma
Increased serum testosterone level, Abnormal circulating hormone concentration, Ovarian fibroma, ... ORPHA:314478
X-Linked Intellectual Disability, Cilliers Type
Absence of secondary sex characteristics, Hypospadias, Hypergonadotropic hypogonadism, Decreased ... ORPHA:163971
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Retinal Dystrophy And Microvillus Inclusion Disease
Bronchiectasis, Recurrent lower respiratory tract infections, Recurrent upper respiratory tract i... OMIM:619446
Idiopathic Achalasia
Bronchitis, Recurrent aspiration pneumonia ORPHA:930
Bronchiolitis Obliterans
Bronchiectasis, Pneumonia, Respiratory tract infection, Bronchiolitis obliterans ORPHA:1303
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Bronchitis, Skin rash, Psoriasiform dermatitis, Cholecystitis, Allergic rhinitis, Cholangitis, Re... ORPHA:183675
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Immunodeficiency 75 With Lymphoproliferation
Bronchiectasis, Recurrent respiratory infections OMIM:619126
Granulomatosis With Polyangiitis
Chronic otitis media, Prostatitis, Pancreatitis, Inflammatory abnormality of the eye, Diabetes in... ORPHA:900
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Absence of secondary sex characteristics, Abnormal labia morphology, Testicular ... ORPHA:251510
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, True hermaphroditis... OMIM:278850
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Abnormal se... ORPHA:90796
Immunodeficiency, Common Variable, 2
Recurrent otitis media, Partial absence of specific antibody response to unconjugated pneumococcu... OMIM:240500
Ciliary Dyskinesia, Primary, 17
Recurrent otitis media, Chronic rhinitis, Bronchiectasis, Recurrent respiratory infections, Chron... OMIM:614679
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hypoketotic hypoglycemia, Hypocalcemia, Hypoproteinemia, Elevated circulat... ORPHA:26793
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Recurrent candida infections, Sepsis, Recurrent lower respiratory tract infections, Crohn's disea... ORPHA:436159
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Igg4-Related Kidney Disease
Prostatitis, Pancreatitis, Sclerosing cholangitis, Arteritis, Thyroiditis, Interstitial pneumonit... ORPHA:449395
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Ambiguous genitalia, Increased urinary cortisol ... ORPHA:786
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Increased circulating ferritin concentration, Hyperproteinemia ORPHA:158048
49,Xxxyy Syndrome
Increased circulating gonadotropin level, External genital hypoplasia, Abnormality of the testis ... ORPHA:261534
Familial Nasal Acilia
Atelectasis, Chronic rhinitis, Recurrent upper respiratory tract infections, Bronchiectasis, Chro... ORPHA:922
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Recurrent lower respiratory tract infections, Increased circulating IgG l... OMIM:619220
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia ORPHA:29073
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hearing impairment, Hyp... ORPHA:99886
Ciliary Dyskinesia, Primary, 43
Recurrent lower respiratory tract infections, Chronic rhinitis, Recurrent upper respiratory tract... OMIM:618699
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Functioning Gonadotropic Adenoma
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... ORPHA:91348
Immunodeficiency 109 With Lymphoproliferation
Recurrent lower respiratory tract infections, Complete or near-complete absence of specific antib... OMIM:620282
Polyembryoma
Isosexual precocious puberty, Increased serum testosterone level, Abnormality of the endocrine sy... ORPHA:180229
Cryptococcosis
Pneumonia, Peritonitis, Prostatitis, Osteomyelitis ORPHA:1546
Ciliary Dyskinesia, Primary, 24
Recurrent sinusitis, Recurrent otitis media, Chronic rhinitis, Bronchiectasis OMIM:615481
Ciliary Dyskinesia, Primary, 11
Chronic rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infections, Chronic ... OMIM:612649
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Sensorineural hearing impairment, Facial palsy, Absent brainstem auditory responses, EEG abnormal... OMIM:617519
Isolated Agammaglobulinemia
Sepsis, Pneumonia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Sinusitis, Otitis m... ORPHA:229717
Igg4-Related Ophthalmic Disease
Prostatitis, Pancreatitis, Cholangitis, Thyroiditis, Sinusitis, Keratitis, Orchitis, Abnormality ... ORPHA:449563
Microlissencephaly
Pneumonia ORPHA:1083
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Memory... ORPHA:247585
Ciliary Dyskinesia, Primary, 35
Chronic otitis media, Chronic rhinitis, Recurrent pneumonia, Bronchiectasis, Chronic sinusitis OMIM:617092
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Gastritis, Skin rash, Decreased circulating antibody level, Partial absence of ... OMIM:618108
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Precocious puberty in males, Clitoral hypert... OMIM:202010
Diabetes And Deafness, Maternally Inherited
Sensorineural hearing impairment, Cardiomyopathy, Hyperglycemia, Type II diabetes mellitus OMIM:520000
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Chronic oral candidiasis, Recurrent otitis media, Recurrent infections, Chronic mucocutaneous can... OMIM:618282
Hemochromatosis, Type 4
Glucose intolerance, Cardiomyopathy, Impaired glucose tolerance, Diabetes mellitus, Arrhythmia, E... OMIM:606069
Igg4-Related Submandibular Gland Disease
Xerostomia, Prostatitis, Cholangitis, Abnormality of the thyroid gland ORPHA:449432
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Interstitial pneumonitis, Bronchiolitis, Enterocolitis, Recurrent sinopulmonary infections, Decre... OMIM:614878
Immunodeficiency 110 With Lymphoproliferation
Sepsis, Recurrent lower respiratory tract infections, Recurrent aphthous stomatitis, Chronic muco... OMIM:614868
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Sclerosing cholangitis, Recurrent sinusitis, Allergic rhinitis, Increased circulating IgG level, ... OMIM:243700
Ciliary Dyskinesia, Primary, 25
Recurrent otitis media, Chronic rhinitis, Recurrent pneumonia, Recurrent sinusitis, Bronchiectasi... OMIM:615482
Leptospirosis
Hypotension, Retinal hemorrhage, Pericarditis, Papilledema, Arrhythmia, Subconjunctival hemorrhag... ORPHA:509
Immunodeficiency 102
Sepsis, Increased circulating interleukin 6 concentration, Recurrent lower respiratory tract infe... OMIM:301082
Neonatal Alloimmune Neutropenia
Pneumonia, Sepsis ORPHA:464370
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmented micronodu... OMIM:610489
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Ciliary Dyskinesia, Primary, 32
Recurrent otitis media, Chronic rhinitis, Bronchiectasis, Recurrent respiratory infections, Chron... OMIM:616481
Immunodeficiency 13
Recurrent otitis media, Bronchiectasis, Recurrent sinusitis, Recurrent pneumonia, Recurrent upper... OMIM:615518
Ciliary Dyskinesia, Primary, 34
Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Chronic rhinitis OMIM:617091
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Recurrent otitis media, Recurrent bronchit... OMIM:300853
Immunodeficiency 77
Bronchiectasis, Cutaneous abscess, Recurrent tonsillitis OMIM:619223
Immunodeficiency 32B
Recurrent infections, Abnormal circulating IgG level, Bronchiectasis, Sinusitis, Pneumonia, Recur... OMIM:226990
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Recurrent otitis media, Bronchiolitis, Periodontitis OMIM:266265
Hypertriglyceridemia 1
Hypertriglyceridemia, Glucose intolerance, Increased VLDL cholesterol concentration OMIM:145750
Ciliary Dyskinesia, Primary, 7
Bronchiectasis, Recurrent pneumonia, Recurrent otitis media, Chronic rhinitis OMIM:611884
Ciliary Dyskinesia, Primary, 26
Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe... OMIM:615500
C1Q Deficiency 2
Sepsis, Recurrent otitis media, Atelectasis, Recurrent lower respiratory tract infections, Malar ... OMIM:620321
Pancreatic insufficiency, combined exocrine
Congestive heart failure, Hypoproteinemia OMIM:260450
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Ciliary Dyskinesia, Primary, 13
Recurrent sinusitis, Recurrent bronchitis, Recurrent otitis media, Bronchiectasis OMIM:613193
Ciliary Dyskinesia, Primary, 5
Recurrent otitis media, Chronic rhinitis, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasi... OMIM:608647
Mohr-Tranebjaerg Syndrome
Optic atrophy, Postlingual sensorineural hearing impairment, Prelingual sensorineural hearing imp... ORPHA:52368
Non-Functioning Pituitary Adenoma
Erectile dysfunction, Impotence, Female hypogonadism, Hypogonadism, Central adrenal insufficiency... ORPHA:91349
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ... ORPHA:90790
Alkaptonuria
Hypothyroidism, Arthritis, Prostatitis, Osteoarthritis ORPHA:56
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Chronic oral candidiasis, Sepsis, Pneumonia, Abnormal immunoglobulin level, Increased circulating... ORPHA:276
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Absence of secondary sex characteristics, Increased female libido, Hypoplasia of... ORPHA:432
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent respiratory infections, Panhypogammaglobulinemia, Decreased cir... OMIM:601495
Scedosporiosis
Sepsis, Pleuritis, Bronchitis, Pleural empyema, Sinusitis, Pericarditis, Arthralgia/arthritis, Se... ORPHA:449280
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Hyperglycemia, Elevated hemoglobin A1c OMIM:609812
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Sepsis, Recurrent lower respiratory tract infections, Crohn's disease, Arthritis, Decreased circu... OMIM:616100
Dengue Fever
Gastrointestinal hemorrhage, Hypoproteinemia, Hypotension, Epistaxis, Cerebral hemorrhage ORPHA:99828
Autosomal Agammaglobulinemia
Chronic otitis media, Sepsis, Recurrent respiratory infections, Recurrent infections, Arthritis, ... ORPHA:33110
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Optic disc pallor OMIM:618970
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Type 1 Diabetes Mellitus
Diabetes mellitus, Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Immunodeficiency, Common Variable, 8, With Autoimmunity
Sepsis, Recurrent otitis media, Pneumonia, Recurrent infections, Thyroiditis, Colitis, Arthritis,... OMIM:614700
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Low pulse pressure, Hypoalbuminemia, Increased alpha-globulin, H... ORPHA:86816
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia ORPHA:141152
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:267700
Ciliary Dyskinesia, Primary, 15
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent respiratory infections, Ch... OMIM:613808
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Recurrent otitis media, Increased circulating IgE level, Eczematoid dermatitis, Keratitis, Bronch... OMIM:618523
Ciliary Dyskinesia, Primary, 12
Chronic otitis media, Chronic rhinitis, Bronchiectasis, Recurrent respiratory infections, Chronic... OMIM:612650
Adenohypophysitis
Reduced circulating prolactin concentration, Decreased male libido, Pituitary hypothyroidism, Abn... ORPHA:95512
Ciliary Dyskinesia, Primary, 19
Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe... OMIM:614935
Autosomal Recessive Spastic Paraplegia Type 26
Premature ovarian insufficiency, Decreased serum testosterone concentration ORPHA:101006
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgE, Crohn's disease, Decreased circulating IgG level, Recurrent sinopulmon... OMIM:618394
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia OMIM:256300
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Maternal diabete... OMIM:604367
47,Xyy Syndrome
Male infertility, Increased serum testosterone level, Hypospadias, Azoospermia, Oligozoospermia, ... ORPHA:8
Panhypophysitis
Central diabetes insipidus, Reduced circulating prolactin concentration, Decreased male libido, P... ORPHA:95513
Tracheobronchopathia Osteochondroplastica
Atelectasis, Bronchitis, Esophagitis, Recurrent pneumonia, Pneumonia, Recurrent respiratory infec... ORPHA:3348
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Ciliary Dyskinesia, Primary, 51
Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis, Chronic rhinitis OMIM:620438
Interstitial Lung Disease 1
Intralobular septal thickening, Nonspecific interstitial pneumonia, Elevated bronchoalveolar lava... OMIM:619611
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi... ORPHA:90794
49,Xyyyy Syndrome
Increased circulating gonadotropin level, External genital hypoplasia, Azoospermia, Abnormality o... ORPHA:99330
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Pulmonary pneumatocele, Chronic mucocutaneous candidiasis, Increased circulating IgE level, Cutan... OMIM:619752
Combined Immunodeficiency Due To Zap70 Deficiency
Chronic oral candidiasis, Pneumonia, Stomatitis, Chronic mucocutaneous candidiasis, Skin rash, Re... ORPHA:911
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Johanson-Blizzard Syndrome
Sensorineural hearing impairment, Diabetes mellitus, Hypoproteinemia ORPHA:2315
Estrogen Resistance
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estra... OMIM:615363
Ménétrier Disease
Hypoalbuminemia, Gastrointestinal hemorrhage, Hypoproteinemia ORPHA:2494
Diabetes Mellitus, Permanent Neonatal, 3
Interictal epileptiform activity, Glycosuria, Type I diabetes mellitus, Hyperglycemia OMIM:618857
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Sepsis, Atelectasis, Respiratory tract infection, Pneumonia ORPHA:70587
Frasier Syndrome
Ambiguous genitalia, male, Gonadoblastoma, Hypergonadotropic hypogonadism, Male pseudohermaphrodi... ORPHA:347
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Clitoral hy... ORPHA:289548
Ane Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Reduced circulating prola... ORPHA:157954
Congenital Disorder Of Glycosylation, Type Ij
Hypsarrhythmia, Hypoproteinemia OMIM:608093
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Clitoral hy... ORPHA:168558
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia, Pulmonary embolism, Budd-Chiari syndrome OMIM:226300
Immunodeficiency 12
Cheilitis, Absent isohemagglutinin level, Recurrent lower respiratory tract infections, Recurrent... OMIM:615468
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia ORPHA:398063
Immunodeficiency 52
Recurrent infections, Decreased circulating antibody level, Recurrent pneumonia, Bronchiectasis, ... OMIM:617514
Autosomal Dominant Severe Congenital Neutropenia
Recurrent aphthous stomatitis, Periodontitis, Recurrent ear infections, Recurrent viral infection... ORPHA:486
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Recurrent respiratory infections, Intraalveolar phospholipid accumulation, Pneumonia OMIM:610910
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Sepsis, Recurrent otitis media, Recurrent lower respiratory tract infections, Partial absence of ... OMIM:618986
Rigid Spine Syndrome
Pneumonia ORPHA:97244
Leukoencephalopathy With Vanishing White Matter 1
Premature ovarian insufficiency, Decreased circulating progesterone, Secondary amenorrhea, Primar... OMIM:603896
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Increased serum testosterone level, Eczematoid dermatitis, Congenital adren... ORPHA:96181
Mody
Neonatal hypoglycemia, Abnormal circulating C-peptide concentration, Hypoinsulinemia, Glycosuria,... ORPHA:552
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
T-Cell Immunodeficiency With Thymic Aplasia
Chronic otitis media, Chronic oral candidiasis, Recurrent candida infections, Sepsis, Recurrent S... ORPHA:83471
Immunodeficiency 58
Chronic otitis media, Recurrent aphthous stomatitis, Seborrheic dermatitis, Chronic mucocutaneous... OMIM:618131
T-Cell Immunodeficiency With Thymic Aplasia
Pyoderma, Emphysema, Recurrent bronchopulmonary infections, Eczematoid dermatitis, Recurrent vira... OMIM:242700
Ciliary Dyskinesia, Primary, 30
Recurrent otitis media, Bronchiectasis, Recurrent respiratory infections, Chronic sinusitis, Chro... OMIM:616037
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Recurrent aphthous stomatitis, Recurrent infections, Recurrent pneumoni... OMIM:150550
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis OMIM:620197
Whim Syndrome
Sepsis, Severe periodontitis, Atelectasis, Parotitis, Decreased circulating antibody level, Lymph... ORPHA:51636
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Otitis media, Bronchiectasis, Recurrent respiratory infections, Chronic sinu... OMIM:613807
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intraalveolar phospholipid accumulation, Nonspecific interstitial pneumonia, Intralobular septal ... OMIM:610913
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Abnormal cranial nerve morphology, Fa... OMIM:601596
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Hypertension, Hyperglycemia, Insulin-resistant diabetes mellitus OMIM:608600
Selective Igm Deficiency
Crohn's disease, Recurrent vulvovaginal candidiasis, Onychomycosis, Decreased specific antibody r... ORPHA:331235
Ciliary Dyskinesia, Primary, 16
Chronic otitis media, Chronic sinusitis, Chronic rhinitis, Bronchiectasis OMIM:614017
Müllerian Aplasia And Hyperandrogenism
Acne, Increased serum testosterone level, Abnormal vagina morphology, Abnormality of the ovary, P... ORPHA:247768
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Hypoalbuminemia, ... OMIM:603553
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Memory impairment, Prolonged QTc interval, Hypertensio... ORPHA:90065
Alg6-Cdg
Increased circulating androgen concentration, Puberty and gonadal disorders ORPHA:79320
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Congestive heart failure, Hypoproteinemia, Cardiomyopathy, Elevated circulating creatine kinase c... OMIM:615895
Ciliary Dyskinesia, Primary, 22
Recurrent otitis media, Rhinitis, Recurrent sinusitis, Bronchiectasis, Recurrent respiratory infe... OMIM:615444
Pneumocystosis
Chronic oral candidiasis, Increased circulating antibody level, Acute infectious pneumonia, Pleur... ORPHA:723
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Absence of secondary sex characteristics, Increased circulating gonadotropin lev... ORPHA:2232
Perrault Syndrome 4
Premature ovarian insufficiency, Hypoplasia of the ovary, Secondary amenorrhea, Bicornuate uterus... OMIM:615300
Abcd Syndrome
Total intestinal aganglionosis, Hearing impairment, Aganglionic megacolon, Abnormal auditory evok... OMIM:600501
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Hyperglycemia, Diabetic ketoacidosis, Hypoglycemia, Postp... OMIM:262190
Ciliary Dyskinesia, Primary, 1
Chronic otitis media, Atelectasis, Recurrent bronchitis, Chronic rhinitis, Bronchiectasis, Pneumo... OMIM:244400
Aspergillosis
Hypersensitivity pneumonitis, Pleuritis, Increased circulating IgE level, Pleural effusion, Bronc... ORPHA:1163
Tularemia
Pneumonia, Increased circulating antibody level, Inflammatory abnormality of the eye, Skin rash, ... ORPHA:3392
46,Xx Gonadal Dysgenesis
Delayed puberty, Gonadal dysgenesis, Premature ovarian insufficiency, Secondary amenorrhea, Aplas... ORPHA:243
X-Linked Centronuclear Myopathy
Pneumonia, Recurrent respiratory infections ORPHA:596
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Idiopathic Pulmonary Fibrosis
Abnormal pulmonary interstitial morphology, Reticular pattern on pulmonary HRCT, Honeycomb lung, ... ORPHA:2032
Combined Immunodeficiency Due To Crac Channel Dysfunction
Chronic otitis media, Sepsis, Recurrent viral infections, Recurrent mycobacterial infections, Pne... ORPHA:169090
Familial Glucocorticoid Deficiency
Azoospermia, Decreased circulating dehydroepiandrosterone concentration, Congenital hypothyroidis... ORPHA:361
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoalbuminemia, Hypoproteinemia, Hypomagnesemia ORPHA:90362
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... ORPHA:95699
Nephronophthisis-Like Nephropathy 2
Bronchiectasis, Recurrent respiratory infections OMIM:619468
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypertension, Hyperglycemia, Type ... OMIM:615812
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Immunodeficiency 64 With Lymphoproliferation
Recurrent lower respiratory tract infections, Recurrent infections, Increased circulating IgG lev... OMIM:618534
Mccune-Albright Syndrome
Decreased fertility, Pancreatitis, Increased serum testosterone level, Irregular menstruation, Ma... ORPHA:562
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent abscess formation, Abnormal circulating interferon-gamma concentration, Recurrent respi... ORPHA:79124
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Hypospadias, Azoospermia, Urogenital s... ORPHA:1772
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypernatremia, Neonatal hy... ORPHA:529808
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypernatremia, Neonatal hy... ORPHA:529799
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Chronic bronchitis, Panacinar emphysema OMIM:613490
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Bronchiectasis, Sinusitis, Increased circulating IgM level, Pneumonia, Decreased circulating IgA ... OMIM:242860
Staphylococcal Necrotizing Pneumonia
Pneumothorax, Pulmonary pneumatocele, Sepsis, Acute infectious pneumonia, Pleural empyema, Pleura... ORPHA:36238
Immunodeficiency 27A
Increased circulating IgG level, Salmonella osteomyelitis, Increased circulating IgM level, Pneum... OMIM:209950
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Bronchiectasis ORPHA:2375
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Sepsis ORPHA:231154
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Elevated b... OMIM:612387
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Respiratory tract infection, Bronchiecta... ORPHA:79127
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ... ORPHA:3044
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Decreased nerve conduction velocity, Hypoproteinemia, Cognitive impairment,... ORPHA:167
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased response to growth hormone stimulation test, Recurrent otitis media, Decreased circulat... ORPHA:293978
Fusariosis
Lung abscess, Hypersensitivity pneumonitis, Panniculitis, Maculopapular exanthema, Myositis, Arth... ORPHA:228119
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Low-set ears OMIM:235255
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Chronic mucocutaneous candidiasis, Increased circulating IgE level, Skin rash, Sinusitis, Recurre... OMIM:102700
Woodhouse-Sakati Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Prematu... ORPHA:3464
Infantile Krabbe Disease
Optic atrophy, Delayed brainstem auditory evoked response conduction time, Decreased nerve conduc... ORPHA:206436
Ciliary Dyskinesia, Primary, 2
Sinusitis, Recurrent respiratory infections, Otitis media, Bronchiectasis OMIM:606763
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Premature ovarian insufficiency, ... OMIM:241080
Ciliary Dyskinesia, Primary, 38
Chronic otitis media, Rhinitis, Chronic sinusitis, Bronchiectasis OMIM:618063
Symptomatic Form Of Hfe-Related Hemochromatosis
Erectile dysfunction, Arthritis, Decreased libido, Infertility, Testicular atrophy, Hypothyroidis... ORPHA:465508
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve... OMIM:305400
Common Variable Immunodeficiency
Chronic otitis media, Emphysema, Recurrent bronchitis, Decreased circulating antibody level, Bron... ORPHA:1572
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Delayed brainstem auditory evoked response conduction ... OMIM:610532
Immunodeficiency 40
Chronic oral candidiasis, Recurrent otitis media, Focal active colitis, Recurrent pneumonia, Resp... OMIM:616433
Immunodeficiency 92
Cholangitis, Sclerosing cholangitis, Partial absence of specific antibody response to tetanus vac... OMIM:619652
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration OMIM:609195
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia OMIM:619057
Riddle Syndrome
Abnormal pulmonary interstitial morphology, Bronchitis, Arthritis, Decreased circulating IgG leve... ORPHA:420741
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Recurrent infections, Bronchiectasis OMIM:615434
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Recurrent lower respiratory tract infections, Recurrent urinary tract infections, Sinu... OMIM:613179
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Interstitial pneumonitis, Recurrent upper respiratory tract infections OMIM:620296
Ovarian Hyperstimulation Syndrome
Increased serum testosterone level, Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Ovaria... ORPHA:64739
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia OMIM:619971
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia ORPHA:90117
Graft Versus Host Disease
Gastrointestinal inflammation, Pneumonia, Inflammatory abnormality of the eye, Recurrent infectio... ORPHA:39812
Adult Krabbe Disease
Progressive neurologic deterioration, Delayed brainstem auditory evoked response conduction time,... ORPHA:206448
Sporadic Creutzfeldt-Jakob Disease
Recurrent infections, Sepsis, Recurrent aspiration pneumonia ORPHA:204
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia, Low-set ears ORPHA:1655
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Sepsis, Pneumonia, Gastritis, Recurrent infections, Thyroiditis, Increased circulating IgE level,... ORPHA:37042
Immunodeficiency 36 With Lymphoproliferation
Recurrent lower respiratory tract infections, Decreased circulating IgG level, Increased circulat... OMIM:616005
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Increased circulating ferritin concentration, Vestibular areflexia, Absent brainstem auditory res... ORPHA:3240
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent lower respiratory tract infections, Decreased circulating antibody level, Interstitial ... OMIM:615952
Insulin-Resistance Syndrome Type B
Pneumonia, Hyperinsulinemia, Increased serum testosterone level, Skin rash, Enlarged polycystic o... ORPHA:2298
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Premature ovarian insufficiency, Hypospadias, Hypergonadotropic hypogonadism, In... ORPHA:2959
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Optic disc pallor OMIM:619260
Yellow Nail Syndrome
Pleuritis, Neoplasm of the lung, Sinusitis, Rhinitis, Bronchiectasis, Recurrent respiratory infec... ORPHA:662
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Bronchiectasis, Reduced circulating interferon gamma concentration, Increase... OMIM:301220
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Sepsis, Panhypogammaglobulinemia, Increased circulating IgE level, Otitis media, Recurrent upper ... OMIM:602450
Timothy Syndrome
Recurrent infections, Bronchitis, Pneumonia OMIM:601005
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:109120
Bacterial Toxic-Shock Syndrome
Myocarditis, Sepsis, Myositis, Recurrent urinary tract infections, Skin rash, Arthritis, Hepatiti... ORPHA:36234
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, Recurrent lower respiratory tract infections, Panhypogammaglobulinemia, R... OMIM:600802
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Hypergonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea, Decreased serum es... OMIM:604168
Primary Ciliary Dyskinesia
Chronic otitis media, Recurrent otitis media, Atelectasis, Pulmonary situs ambiguus, Chronic rhin... ORPHA:244
Omenn Syndrome
Erythroderma, Recurrent viral infections, Pneumonia, Recurrent fungal infections, Recurrent bacte... OMIM:603554
Rabson-Mendenhall Syndrome
Clitoral hypertrophy, Increased serum testosterone level, Long penis, Hypothyroidism, Precocious ... ORPHA:769
Good Syndrome
Recurrent urinary tract infections, Decreased circulating antibody level, Sinusitis, Bronchiectas... ORPHA:169105
Pgm3-Cdg
Chronic otitis media, Allergic rhinitis, Increased circulating IgG level, Atopic dermatitis, Recu... ORPHA:443811
Avian Influenza
Pneumothorax, Sepsis, Myelitis, Pleural effusion, Conjunctivitis, Pneumonia, Hepatitis, Infectiou... ORPHA:454836
Bronchogenic Cyst
Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Pneumonia, Pulmonary cyst ORPHA:2357
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Sensorineural hearing impairment, Abnormal auditory evoked potentials, A... ORPHA:99027
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased testicular size, Hypogonadism, Decreased serum testosterone concentration OMIM:201100
Alpha-Mannosidosis, Adult Form
Recurrent gastroenteritis, Pneumonia, Recurrent infections ORPHA:309288
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia ORPHA:2590
Omenn Syndrome
Pneumonia, Thyroiditis, Sepsis, Erythroderma ORPHA:39041
Slc35A1-Cdg
Pneumonia, Pulmonary hemorrhage ORPHA:238459
Liver Disease, Severe Congenital
Recurrent otitis media, Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, Hyperalaninemia, Short... OMIM:619991
Sweet Syndrome
Increased circulating interleukin 6 concentration, Panniculitis, Recurrent infections, Myositis, ... ORPHA:3243
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Bloom Syndrome
Cheilitis, Pneumonia, Recurrent tonsillitis, Recurrent infections, Recurrent urinary tract infect... ORPHA:125
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic nerve hypoplasia, Ab... ORPHA:101085
Cerebrotendinous Xanthomatosis
Optic atrophy, Decreased nerve conduction velocity, Progressive psychomotor deterioration, Abnorm... ORPHA:909
Dend Syndrome
Hypsarrhythmia, Thickened ears, Hyperglycemia, Elevated hemoglobin A1c ORPHA:79134
Meningioma
Enlarged pituitary gland, Amenorrhea, Reduced circulating prolactin concentration, Decreased circ... ORPHA:2495
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Intraalveolar phosphol... OMIM:610921
Nocardiosis
Pneumothorax, Scleritis, Sepsis, Emphysema, Pleuritis, Thyroiditis, Pleural effusion, Lymphadenit... ORPHA:31204
Arthrogryposis, Distal, Type 2A
Hearing impairment, Abnormal auditory evoked potentials OMIM:193700
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Cockayne Syndrome Type 1
Optic atrophy, Hypertension, Absent brainstem auditory responses, Increased blood urea nitrogen, ... ORPHA:90321
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... ORPHA:158061
Hereditary Pulmonary Alveolar Proteinosis
Acute infectious pneumonia, Crazy paving pattern ORPHA:264675
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating androstenedione concentration, Clitoral hypertrophy, Decreased circulating ... OMIM:201750
Leukodystrophy, Hypomyelinating, 13
Optic atrophy, Delayed brainstem auditory evoked response conduction time OMIM:616881
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Intraalveolar phos... ORPHA:217563
Oculopharyngodistal Myopathy
Recurrent aspiration pneumonia ORPHA:98897
Postinfectious Vasculitis
Gastrointestinal inflammation, Recurrent candida infections, Recurrent Staphylococcus aureus infe... ORPHA:48435
Severe Acute Respiratory Syndrome
Acute infectious pneumonia ORPHA:140896
Leukocyte Adhesion Deficiency
Perianal abscess, Severe periodontitis, Sinusitis, Chronic oral candidiasis, Recurrent aphthous s... ORPHA:2968
Immunodeficiency 82 With Systemic Inflammation
Recurrent abscess formation, Decreased circulating total IgG, Recurrent otitis media, Gastritis, ... OMIM:619381
Meconium Aspiration Syndrome
Pneumothorax, Atelectasis, Aspiration pneumonia ORPHA:70588
Sheehan Syndrome
Central diabetes insipidus, Amenorrhea, Reduced circulating prolactin concentration, Pituitary hy... ORPHA:91355
Pseudoleprechaunism Syndrome, Patterson Type
Increased circulating androgen concentration, Diabetes mellitus, Premature adrenarche ORPHA:2976
Mucoepithelial Dysplasia, Hereditary
Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Recurrent pneumonia, Pneumonia, Fibrocys... OMIM:158310
Pyruvate Dehydrogenase E1-Alpha Deficiency
Recurrent infections, Recurrent aspiration pneumonia ORPHA:79243
Mitochondrial Complex I Deficiency, Nuclear Type 33
Bronchiectasis, Aspiration pneumonia OMIM:618253
Drug Reaction With Eosinophilia And Systemic Symptoms
Myocarditis, Thyroiditis, Skin rash, Pustule, Infectious encephalitis, Erythroderma, Interstitial... ORPHA:139402
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Chronic oral candidiasis, Decreased circulating total IgG, Recurrent urinary tract infections, Re... ORPHA:221139
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Recurrent respiratory infections ORPHA:98905
Q Fever
Myocarditis, Abnormal pulmonary interstitial morphology, Increased circulating antibody level, Pl... ORPHA:781
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Aganglionic megacolon, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, ... OMIM:609136
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Adrenal hyperplasia, Pulmonary carcinoid tumor, Medullary thyroid carcinoma, In... ORPHA:99889
Roifman-Chitayat Syndrome
Pneumonia, Arthritis OMIM:613328
Alpha-1-Antitrypsin Deficiency
Panniculitis, Emphysema, Bronchitis, Bronchiectasis, Hepatitis ORPHA:60
Pierson Syndrome
Hypoproteinemia, Hypertension, Retinal hemorrhage OMIM:609049
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia OMIM:253700
Cockayne Syndrome A
Optic atrophy, Decreased nerve conduction velocity, Dementia, Sensorineural hearing impairment, A... OMIM:216400
Brucellosis
Bronchitis, Pericarditis, Anterior uveitis, Myocarditis, Increased circulating IgG level, Septic ... ORPHA:1304
Juvenile Neuronal Ceroid Lipofuscinosis
Aspiration pneumonia ORPHA:79264
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hypoproteinemia, Low-set ears, Tra... ORPHA:2929
Shigellosis
Myocarditis, Sepsis, Acute colitis, Arthritis, Peritonitis, Conjunctivitis, Pneumonia, Ulcerative... ORPHA:810
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Malakoplakia
Prostate neoplasm, Skin rash, Inflammatory abnormality of the skin, Orchitis, Abnormality of the ... ORPHA:556
Spondyloenchondrodysplasia
Recurrent infections, Arthritis, Skin rash, Pneumonia, Juvenile rheumatoid arthritis, Hepatitis ORPHA:1855
Mogs-Cdg
Optic atrophy, Sensorineural hearing impairment, Absent brainstem auditory responses, Abnormality... ORPHA:79330
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Increased circulating interleukin 6 concentration, Pancreatitis, Pleuritis, Acute co... ORPHA:544482
Ciliary Dyskinesia, Primary, 20
Recurrent otitis media, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Recurrent si... OMIM:615067
Lymphatic Filariasis
Knee osteoarthritis, Lymphadenitis, Abnormal scrotum morphology, Epididymitis, Orchitis, Vaginal ... ORPHA:2035
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent otitis media, Juvenile rheumatoid arthritis, Rheumatoid arthritis, Recurrent sinusitis,... OMIM:607944
Listeriosis
Myocarditis, Sepsis, Pyelonephritis, Arteritis, Pericarditis, Pustule, Septic arthritis, Conjunct... ORPHA:533
Cockayne Syndrome B
Optic atrophy, Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal pi... OMIM:133540
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Pneumonia, Sepsis, Skin rash ORPHA:247691
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Mirage Syndrome
Recurrent urinary tract infections, Sepsis, Recurrent bacterial infections, Aspiration pneumonia OMIM:617053
Trisomy 10P
Low voltage EEG, EEG with focal spikes, Abnormal auditory evoked potentials, Low-set ears, Macrot... ORPHA:171929
Mend Syndrome
Low-set ears, Abnormal auditory evoked potentials, Aortic valve stenosis, Elevated 8(9)-cholesten... ORPHA:401973
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased fertility, Premature ovarian insufficiency, Decreased circulating progesterone, Seconda... ORPHA:572333
Congenital Tracheomalacia
Pneumothorax, Partial anomalous pulmonary venous return, Emphysema, Bronchiectasis, Pulmonary hyp... ORPHA:95430
Coccidioidomycosis
Morbilliform rash, Pneumonia, Pancreatitis, Panniculitis, Increased circulating IgG level, Arthri... ORPHA:228123
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Congenital Syphilis
Myocarditis, Pancreatitis, Synovitis, Rhinitis, Keratitis, Pneumonia, Maculopapular exanthema, Uv... ORPHA:499009
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Myositis, Arthritis, Skin rash, Pericarditis, Erysipelas, Orchitis, Peritonitis, Conjunctivitis, ... ORPHA:32960
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia ORPHA:216866
Robinow Syndrome
External genital hypoplasia, Hypoplastic labia majora, Clitoral hypoplasia, Webbed penis, Small s... ORPHA:97360
Adult-Onset Still Disease
Myocarditis, Pleuritis, Arthritis, Skin rash, Pericarditis, Arthralgia/arthritis, Interstitial pn... ORPHA:829
Zygomycosis
Myocarditis, Pneumothorax, Fasciitis, Pancreatitis, Gastritis, Atelectasis, Acute infectious pneu... ORPHA:73263
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Absence of labia majora, Hypospadias, Hypoplastic labia minora, Absent scrotum, Cryptorchidism, K... ORPHA:495875
Gm1 Gangliosidosis
Infectious encephalitis, Recurrent respiratory infections, Aspiration pneumonia ORPHA:354
Aicardi-Goutieres Syndrome 7
Increased circulating antibody level, Recurrent lower respiratory tract infections, Arthritis, Sk... OMIM:615846
Steinert Myotonic Dystrophy
Abnormality of thyroid physiology, Hyperinsulinemia, Decreased response to growth hormone stimula... ORPHA:273
Cystic Fibrosis
Pneumothorax, Recurrent Staphylococcus aureus infections, Recurrent lower respiratory tract infec... ORPHA:586
Psoriasis-Related Juvenile Idiopathic Arthritis
Iritis, Malar rash, Skin rash, Oligoarthritis, Sacroiliac arthritis, Enthesitis, Iridocyclitis, A... ORPHA:85436
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent pneumonia, Recurrent aspiration pneumonia OMIM:300472
Bronchial Neuroendocrine Tumor
Pneumonia, Abnormal pulmonary interstitial morphology ORPHA:97287
Familial Mediterranean Fever
Crohn's disease, Arthritis, Erysipelas, Pericarditis, Orchitis, Peritonitis OMIM:249100
Infantile Neuroaxonal Dystrophy
Aspiration pneumonia ORPHA:35069
Shwachman-Diamond Syndrome
Sepsis, Skin rash, Eczematoid dermatitis, Sinusitis, Recurrent viral infections, Pneumonia, Recur... ORPHA:811
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Keratitis, Tracheobronchial leiomyomatosis, Aspiration pneumonia ORPHA:1018
Ectodermal Dysplasia And Immunodeficiency 2
Recurrent respiratory infections, Recurrent infection of the gastrointestinal tract, Defective pr... OMIM:612132
Immunoglobulin A Vasculitis
Arthritis, Skin rash, Episcleritis, Pustule, Orchitis, Infectious encephalitis ORPHA:761
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Anomalous pulmonary venous return, Recurrent bacterial infections ORPHA:99104
Behçet Disease
Pancreatitis, Recurrent aphthous stomatitis, Myositis, Optic neuritis, Arthritis, Increased infla... ORPHA:117
Alpha-Mannosidosis, Infantile Form
Pneumonia, Recurrent infections, Recurrent urinary tract infections, Otitis media, Recurrent gast... ORPHA:309282
Familial Mediterranean Fever
Pancreatitis, Arthritis, Skin rash, Pericarditis, Erysipelas, Osteoarthritis, Peritonitis, Orchitis ORPHA:342
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia OMIM:258865
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Hennekam-Beemer Syndrome
Pneumonia ORPHA:2135
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Hemorrhagic Fever-Renal Syndrome
Pulmonary edema, Increased circulating interleukin 6 concentration, Acute tubulointerstitial neph... ORPHA:340
Proximal Spinal Muscular Atrophy
Recurrent aspiration pneumonia, Recurrent infections due to aspiration ORPHA:70
Acute Radiation Syndrome
Interstitial pneumonitis, Inflammatory abnormality of the skin ORPHA:454831
Cystic Fibrosis
Pancreatitis, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis, Chronic... OMIM:219700
Mucopolysaccharidosis Type 3
Chronic otitis media, Recurrent tonsillitis, Aspiration pneumonia, Respiratory tract infection, R... ORPHA:581
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Recurrent otitis media, Increased serum te... ORPHA:3455
Gaucher Disease, Type Ii
Recurrent aspiration pneumonia, Bronchiolitis OMIM:230900
Bickerstaff Brainstem Encephalitis
Recurrent gastroenteritis, Pneumonia, Respiratory tract infection ORPHA:79138
Severe Generalized Junctional Epidermolysis Bullosa
Pneumothorax, Gastrointestinal inflammation, Sepsis, Pyoderma, Recurrent urinary tract infections... ORPHA:79404
Mucopolysaccharidosis, Type Vi
Pneumonia, Recurrent upper respiratory tract infections OMIM:253200
Combined Oxidative Phosphorylation Deficiency 25
Aspiration pneumonia OMIM:616430
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Pustule, Respiratory tract infection, Pneumonia, Infectious encephalitis ORPHA:68
Fanconi Anemia, Complementation Group F
Pneumonia OMIM:603467
Mercury Poisoning
Interstitial pneumonitis ORPHA:330021
Crimean-Congo Hemorrhagic Fever
Morbilliform rash, Myocarditis, Parotitis, Inappropriate antidiuretic hormone secretion, Acute pa... ORPHA:99827
Plague
Sepsis, Carbuncle, Inflammatory abnormality of the eye, Acute infectious pneumonia, Arthritis, Sk... ORPHA:707
Wiedemann-Rautenstrauch Syndrome
Increased serum testosterone level, Hypospadias, Long penis, Hypoplasia of the thymus, Pneumonia,... OMIM:264090
Geleophysic Dysplasia 3
Pneumonia OMIM:617809
Chops Syndrome
Anomalous pulmonary venous return, Aspiration pneumonia OMIM:616368
Atrial Septal Defect, Ostium Secundum Type
Pneumonia, Recurrent bacterial infections ORPHA:99103
Cornelia De Lange Syndrome 1
Pneumonia, Otitis media OMIM:122470
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Recurrent respiratory infections, Recurrent aspiration pneumonia ORPHA:397715
Marshall-Smith Syndrome
Recurrent aspiration pneumonia, Aspiration pneumonia, Recurrent upper respiratory tract infections OMIM:602535
Gm1 Gangliosidosis Type 1
Aspiration pneumonia ORPHA:79255
Neuroleptic Malignant Syndrome
Sepsis, Aspiration pneumonia ORPHA:94093
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Recurrent aspiration pneumonia ORPHA:73230
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Gastrointestinal inflammation, Sepsis, Skin rash, Rhinitis, Anterior uveitis, Inflammatory abnorm... ORPHA:95455
Tay-Sachs Disease
Aspiration pneumonia ORPHA:845
Coffin-Siris Syndrome
Recurrent infections, Aspiration pneumonia, Recurrent upper respiratory tract infections ORPHA:1465
Cholera
Aspiration pneumonia ORPHA:173
Alström Syndrome
Precocious puberty in females, Primary hypothyroidism, Recurrent sinusitis, Decreased circulating... ORPHA:64
Degcags Syndrome
Recurrent infections, Recurrent urinary tract infections, Pneumonia, Rhinitis OMIM:619488
Marburg Hemorrhagic Fever
Pancreatitis, Arthritis, Skin rash, Pericarditis, Orchitis, Maculopapular exanthema, Uveitis ORPHA:99826
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Seborrheic dermatitis, Aspiration pneumonia OMIM:301072
Dyskeratosis Congenita, Autosomal Dominant 1
Interstitial pneumonitis, Pulmonary fibrosis OMIM:127550
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Aspiration pneumonia ORPHA:2020
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pneumonia, Recurrent urinary tract infections, Recurrent respiratory infections, Otitis media ORPHA:353281
Arboleda-Tham Syndrome
Chronic otitis media, Recurrent otitis media, Recurrent urinary tract infections, Recurrent aspir... OMIM:616268
Parenteral Nutrition-Associated Cholestasis
Abnormality of cytokine secretion ORPHA:567983
Miller-Dieker Lissencephaly Syndrome
Recurrent aspiration pneumonia OMIM:247200
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Blepharitis, Peripheral pulmonary artery stenosis, Recurrent aspiration pneumonia ORPHA:280633
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Pneumonia, Recurrent urinary tract infections, Recurrent respiratory infections, Otitis media ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Pneumonia, Recurrent urinary tract infections, Recurrent respiratory infections, Otitis media ORPHA:353277
Opitz Gbbb Syndrome
Recurrent aspiration pneumonia ORPHA:2745
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Aspiration pneumonia OMIM:619482
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Aspiration pneumonia ORPHA:444077
Hereditary Sensory And Autonomic Neuropathy Type 4
Recurrent Staphylococcus aureus infections, Recurrent aspiration pneumonia, Septic arthritis, Fas... ORPHA:642
Niemann-Pick Disease Type C
Abnormal lung morphology, Aspiration pneumonia ORPHA:646
Fontaine Progeroid Syndrome
Pneumothorax, Recurrent aspiration pneumonia, Pulmonary hypoplasia OMIM:612289
Kabuki Syndrome 1
Recurrent infections, Recurrent otitis media, Recurrent aspiration pneumonia OMIM:147920
Semilobar Holoprosencephaly
Aspiration pneumonia ORPHA:220386
Alobar Holoprosencephaly
Aspiration pneumonia ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Aspiration pneumonia ORPHA:93926
Lobar Holoprosencephaly
Aspiration pneumonia ORPHA:93924
Doors Syndrome
Aspiration pneumonia ORPHA:79500
Lafora Disease
Recurrent aspiration pneumonia ORPHA:501
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Aspiration pneumonia ORPHA:438213
Chronic Visceral Acid Sphingomyelinase Deficiency
Interstitial pneumonitis, Abnormal pulmonary interstitial morphology ORPHA:77293
Yunis-Varon Syndrome
Aspiration pneumonia OMIM:216340
Pmm2-Cdg
Pericarditis, Aspiration pneumonia ORPHA:79318

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 Tmprss2

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 Tmprss2.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Animal Models to Study Emerging Technologies Against SARS-CoV-2. Cellular and molecular bioengineering (July 2020) Tmprss2tm1(KOMP)Vlcg PMC7384392
TMPRSS2 Independency for Haemagglutinin Cleavage In Vivo Differentiates Influenza B Virus from Influenza A Virus. Scientific reports (July 2016) Tmprss2tm1(KOMP)Vlcg PMC4937385
A mutant H3N2 influenza virus uses an alternative activation mechanism in TMPRSS2 knockout mice by loss of an oligosaccharide in the hemagglutinin stalk region. Journal of virology (February 2015) Tmprss2tm1(KOMP)Vlcg PMC4403495
The host protease TMPRSS2 plays a major role in in vivo replication of emerging H7N9 and seasonal influenza viruses. Journal of virology (March 2014) Tmprss2tm1(KOMP)Vlcg PMC4019123

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Tmprss2tm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Tmprss2em1(IMPC)Ccpcz Exon Deletion Mice, Tissue
Tmprss2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Tmprss2tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Tmprss2tm2b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice

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