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Gene: Tmprss2 MGI:1354381

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Gene Summary

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

Order Alleles

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 contextual conditioning behavior Tmprss2tm2b(EUCOMM)Hmgu HOM Early adult 4.02×10-06
decreased cardiac muscle contractility Tmprss2tm2b(EUCOMM)Hmgu HOM Early adult 6.08×10-05
abnormal auditory brainstem response Tmprss2tm2b(EUCOMM)Hmgu HOM   Early adult 6.09×10-09
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
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
Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size... OMIM:619044
Spermatogenic Failure 15
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin... OMIM:616950
Spermatogenic Failure 2
Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm... OMIM:108420
Spermatogenic Failure 77
Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor... OMIM:620103
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility, Abnormal circulating estrogen level OMIM:619009
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Recurrent respiratory infections, Ecz... OMIM:613953
Spermatogenic Failure 14
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615842
Spermatogenic Failure 13
Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho... OMIM:615841
Premature Ovarian Failure 17
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... OMIM:619146
Premature Ovarian Failure 16
Reduced antral follicle count, Decreased serum estradiol, Elevated circulating follicle stimulati... OMIM:618723
Young Syndrome
Bronchiectasis, Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Rec... OMIM:279000
Spermatogenic Failure 28
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Non-o... OMIM:618086
Immunodeficiency 116
Recurrent bacterial infections, Recurrent respiratory infections, Recurrent viral infections, Bro... OMIM:608957
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Mounier-Kühn Syndrome
Recurrent bronchopulmonary infections, Recurrent respiratory infections, Pneumonia, Bronchitis ORPHA:3347
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Reduced response to gonadotro... OMIM:616030
Immunodeficiency 104
Pneumonia, Chronic mucocutaneous candidiasis, Failure to thrive secondary to recurrent infections... OMIM:608971
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Delayed Puberty, Self-Limited
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Delayed puberty, Decre... OMIM:619613
Hypogonadotropic Hypogonadism 25 With Anosmia
Decreased serum estradiol, Decreased serum testosterone concentration, Hypothalamic gonadotropin-... OMIM:618841
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Recurrent otitis media, Pyoderma, Decreased response to growth hormone stimulation tes... OMIM:307200
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618014
Spermatogenic Failure, X-Linked, 4
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos... OMIM:301077
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Atopic dermatitis, Recurrent upper respiratory tract infections OMIM:618806
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent bronchitis, Chronic rhinitis,... OMIM:616726
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Glucose intolerance, Type II diabetes mellitus, Hyperten... OMIM:610947
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis OMIM:615294
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Gaisböck Syndrome
Elevated diastolic blood pressure, Increased circulating renin level, Hyperuricemia, Angina pecto... ORPHA:90041
Ciliary Dyskinesia, Primary, 41
Recurrent otitis media, Bronchiectasis, Recurrent sinusitis OMIM:618449
Complement Factor B Deficiency
Recurrent bacterial infections, Peritonitis, Pneumonia, Recurrent meningococcal disease OMIM:615561
Immunodeficiency, Common Variable, 4
Decreased circulating IgG level, Recurrent pneumonia, Recurrent sinusitis, Complete or near-compl... OMIM:613494
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Bronchiectasis, Chronic bronchitis OMIM:613071
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618117
Melioidosis
Pneumonia, Foot osteomyelitis, Cutaneous abscess, Hepatitis, Parotitis, Prostatitis, Acute infect... ORPHA:31202
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Recurrent lower respiratory tract infections, Bronchiectasis OMIM:618254
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemia, Otitis ... OMIM:601457
Methemoglobinemia And Ambiguous Genitalia
Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased circulating dehydroepian... OMIM:250790
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Ciliary Dyskinesia, Primary, 42
Pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:618695
Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Recurrent bronchitis, Otitis media, Sinusitis OMIM:312863
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Pneumonia, Recurrent mycobacterial infections, Recurrent Klebsiella infections, Abnormal circulat... ORPHA:319552
Ciliary Dyskinesia, Primary, 46
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:619436
Ciliary Dyskinesia, Primary, 9
Pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic rhinitis, Chronic sinusitis, Chro... OMIM:612444
Pituicytoma
Decreased serum estradiol, Abnormal circulating adrenocorticotropin concentration, Increased circ... ORPHA:251623
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Hypoproteinemia, Sensorineural hearing impairment OMIM:221400
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ... OMIM:614897
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Recurrent viral infections, Chronic otitis media, Recurrent candida... ORPHA:217390
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Obesity Due To Sim1 Deficiency
Hypotension, Memory impairment, Postural hypotension with compensatory tachycardia, Hyperinsuline... ORPHA:369873
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Chronic bronchitis, Bronchiectasis, Recurrent bronchiolitis OMIM:613021
Diabetes Mellitus, Permanent Neonatal, 4
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... OMIM:618858
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Primary amenorrhea, De... OMIM:614839
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... OMIM:616185
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Reduced C-peptide level, Maternal diabetes, ... OMIM:616329
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased specific pneumococcal antibody level, Decreased circulating IgG2 level, Recurrent sinop... OMIM:615513
Ciliary Dyskinesia, Primary, 48, Without Situs Inversus
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis OMIM:620032
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... ORPHA:206484
Premature Ovarian Failure 21
Decreased serum estradiol, Precocious puberty in females, Streak ovary, Elevated circulating foll... OMIM:620311
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Facial palsy OMIM:601382
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
Microsporidiosis
Lymphadenitis, Keratoconjunctivitis, Prostatitis, Endocarditis, Osteomyelitis, Myositis, Peritoni... ORPHA:2552
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Recurrent pneumonia, Recurrent skin infections, Recurrent sinusitis, Recurren... OMIM:616576
Immunodeficiency, Common Variable, 1
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decrease... OMIM:607594
Immunodeficiency 65, Susceptibility To Viral Infections
Recurrent viral infections, Stomatitis, Bronchiectasis, Recurrent gastroenteritis OMIM:618648
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating IgE, Decre... OMIM:300400
Ciliary Dyskinesia, Primary, 23
Recurrent pneumonia, Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis, Chronic rhi... OMIM:615451
Ciliary Dyskinesia, Primary, 44
Bronchiectasis, Otitis media, Recurrent sinusitis OMIM:618781
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Immunodeficiency 62
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Complete or near-c... OMIM:618459
Immunodeficiency 48
Pneumonia, Eczematoid dermatitis, Panhypogammaglobulinemia, Recurrent candida infections, Recurre... OMIM:269840
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:608644
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 27 concentrati... OMIM:619632
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Transient neonatal diabetes mellitus, Reduced C-peptide level, Maternal diabetes, ... OMIM:610582
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Chronic bronchitis, Chronic sinusitis, Recurrent sinusitis, Rhinitis, Rec... OMIM:615504
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Decreased circulating antibody level, Bronchiectasis, Atelectasis OMIM:615872
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Increased circulating androstenedione conce... OMIM:158330
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:617690
Ciliary Dyskinesia, Primary, 36, X-Linked
Recurrent respiratory infections, Bronchiectasis, Chronic otitis media, Recurrent sinusitis OMIM:300991
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Bronchiectasis, Increased circulating IgE level, Colonic eosinophil... OMIM:617638
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Hyperglycemia, Reduced C-peptide level, Elevated hemoglobin A1c, Diabet... OMIM:606176
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Glomerulonephritis, Increased circulating antibody level OMIM:247800
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Hypsarrhythmia, Reduced C-peptide level OMIM:618856
Leydig Cell Hypoplasia
Male hypogonadism, Hypoplasia of the Leydig cells, Absence of secondary sex characteristics, Abno... ORPHA:755
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Pyoderma, Recurrent sinusitis, Infec... OMIM:300755
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating cortisol level, Increased circulating ACTH level, I... OMIM:615962
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Recurrent lower respiratory tract infections, Recurrent upper re... OMIM:615139
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Polycystic ovaries, Decreased circulating renin level... ORPHA:90795
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... OMIM:619326
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Recurrent lower respiratory tract infections, Acute infec... ORPHA:60033
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... ORPHA:168563
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Ovarian Dysgenesis 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplastic labia majo... OMIM:618187
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... OMIM:614842
Adrenocortical Carcinoma
Increased circulating cortisol level, Hyperaldosteronism, Increased urinary cortisol level, Incre... ORPHA:1501
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Hepatitis, Failure to thrive sec... ORPHA:169160
Complete Androgen Insensitivity Syndrome
Acne, Elevated circulating luteinizing hormone level, Abnormal morphology of female internal geni... ORPHA:99429
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent bacteria... OMIM:193670
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Bifid scrotum, Adrenal i... OMIM:201810
Ciliary Dyskinesia, Primary, 45
Recurrent respiratory infections, Bronchiectasis, Chronic rhinitis OMIM:618801
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Recurrent otitis media, Increased circulating IgE level, Increased c... OMIM:618982
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Chronic otitis media, Bronchiectasis, Atelectasis OMIM:619466
Immunodeficiency 56
Recurrent pneumonia, Recurrent respiratory infections, Panhypogammaglobulinemia, Recurrent otitis... OMIM:615207
Caspase 8 Deficiency
Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased circulating IgA leve... OMIM:607271
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Cardiomyopathy, Sensorineural hearing impairment, Absent brainstem auditory respon... ORPHA:1215
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Recurrent otitis media, Decreased circulating antibody level, C... ORPHA:397596
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Sepsis, Abnormality of tumor necrosis factor secretion, A... ORPHA:178320
Mhc Class I Deficiency 1
Bronchiolitis, Bronchiectasis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otitis... OMIM:604571
Adult Acute Respiratory Distress Syndrome
Pneumonia, Abnormal circulating interleukin concentration, Sepsis, Abnormality of tumor necrosis ... ORPHA:70578
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurre... OMIM:614069
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Osteomyelitis, Recurrent infection of the gastroint... OMIM:608184
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis, Rhinitis, Recurrent respiratory ... OMIM:615505
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... ORPHA:325124
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
X-Linked Intellectual Disability, Van Esch Type
Male hypogonadism, Absence of secondary sex characteristics, Decreased testicular size, Decreased... ORPHA:163976
Idiopathic Achalasia
Recurrent aspiration pneumonia, Bronchitis ORPHA:930
Bronchiolitis Obliterans
Pneumonia, Bronchiolitis obliterans, Bronchiectasis, Respiratory tract infection ORPHA:1303
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Allergic rhinitis, Rheumatoid arthritis, Recurrent otitis media, Psoriasiform dermatitis, Recurre... ORPHA:183675
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
Immunodeficiency 75 With Lymphoproliferation
Recurrent respiratory infections, Bronchiectasis OMIM:619126
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Granulomatosis With Polyangiitis
Abnormality of the hypothalamus-pituitary axis, Otitis media, Skin rash, Increased inflammatory r... ORPHA:900
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:240500
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Dysmenorrhea... ORPHA:90796
Ciliary Dyskinesia, Primary, 17
Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br... OMIM:614679
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Increased circulating free fatty acid level, Hypo... ORPHA:26793
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections... ORPHA:436159
Igg4-Related Kidney Disease
Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Urinary bladder inflammation, Int... ORPHA:449395
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
46,Xx Sex Reversal 5
Increased serum testosterone level, Ambiguous genitalia, Urogenital sinus anomaly OMIM:618901
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis... ORPHA:786
Hemophagocytic Syndrome Associated With An Infection
Hyperproteinemia, Increased circulating ferritin concentration, Hypertriglyceridemia ORPHA:158048
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Chronic rhinitis, B... ORPHA:922
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Increased circulating IgG level, Recurrent lower respiratory tract infect... OMIM:619220
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia ORPHA:29073
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Chronic sinusitis, Chronic rhinitis, Recurrent lowe... OMIM:618699
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Hearing impairment, Hyperglycemia, Transient neonatal diabe... ORPHA:99886
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Immunodeficiency 109 With Lymphoproliferation
Decreased circulating IgG level, Decreased specific pneumococcal antibody level, Complete or near... OMIM:620282
Cryptococcosis
Peritonitis, Osteomyelitis, Prostatitis, Pneumonia ORPHA:1546
Ciliary Dyskinesia, Primary, 11
Chronic bronchitis, Recurrent sinusitis, Chronic rhinitis, Recurrent respiratory infections, Bron... OMIM:612649
Ciliary Dyskinesia, Primary, 24
Recurrent otitis media, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:615481
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Abnormal circulating creatine kinase concentration, Sensorineural hearing impairment, Absent brai... OMIM:617519
Isolated Agammaglobulinemia
Pneumonia, Sepsis, Otitis media, Skin rash, Arthritis, Sinusitis, Inflammatory abnormality of the... ORPHA:229717
Igg4-Related Ophthalmic Disease
Keratitis, Orchitis, Prostatitis, Abnormality of the anterior pituitary, Pancreatitis, Sinusitis,... ORPHA:449563
Microlissencephaly
Pneumonia ORPHA:1083
Ciliary Dyskinesia, Primary, 35
Recurrent pneumonia, Chronic sinusitis, Chronic rhinitis, Chronic otitis media, Bronchiectasis OMIM:617092
Citrullinemia Type Ii
Hypoalbuminemia, Memory impairment, Decreased HDL cholesterol concentration, Confusion, Hyperlipi... ORPHA:247585
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Partial absence of specific antibody response to tetanus vac... OMIM:618108
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus, Cardiomyopathy, Sensorineural hearing impairment OMIM:520000
Hemochromatosis, Type 4
Cardiomyopathy, Increased circulating ferritin concentration, Glucose intolerance, Arrhythmia, El... OMIM:606069
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Recurrent respiratory ... OMIM:618282
Igg4-Related Submandibular Gland Disease
Cholangitis, Prostatitis, Abnormality of the thyroid gland, Xerostomia ORPHA:449432
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Decreased circulating IgA level, Interstitial pneumonitis, Enterocolitis, Recurren... OMIM:614878
Immunodeficiency 110 With Lymphoproliferation
Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent pneumonia, Ch... OMIM:614868
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Allergic rhinitis, Recurrent viral infections, Recurrent otitis media, Increased circulating IgE ... OMIM:243700
Leptospirosis
Hypotension, Pulmonary hemorrhage, Arrhythmia, Papilledema, First degree atrioventricular block, ... ORPHA:509
Ciliary Dyskinesia, Primary, 25
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi... OMIM:615482
Neonatal Alloimmune Neutropenia
Pneumonia, Sepsis ORPHA:464370
Immunodeficiency 102
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Sepsis, Increased ... OMIM:301082
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia... OMIM:308700
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, P... ORPHA:314478
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
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased serum testosterone concentration, Decreased testicular size, Hypogonadism, Cryptorchidi... OMIM:300869
Immunodeficiency 13
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Recurr... OMIM:615518
Ciliary Dyskinesia, Primary, 32
Recurrent otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Br... OMIM:616481
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
Recurrent viral infections, Decreased specific anti-polysaccharide antibody level, Recurrent otit... OMIM:300853
Immunodeficiency 77
Bronchiectasis, Recurrent tonsillitis, Cutaneous abscess OMIM:619223
X-Linked Intellectual Disability, Cilliers Type
Male hypogonadism, Absence of secondary sex characteristics, Decreased testicular size, Decreased... ORPHA:163971
Immunodeficiency 32B
Pneumonia, Recurrent respiratory infections, Abnormal circulating IgG level, Sinusitis, Recurrent... OMIM:226990
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Congenital Disorder Of Glycosylation, Type Iic
Recurrent otitis media, Bronchiolitis, Periodontitis, Pneumonia OMIM:266265
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu... OMIM:278850
Ciliary Dyskinesia, Primary, 7
Recurrent otitis media, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis OMIM:611884
Hypertriglyceridemia 1
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Ciliary Dyskinesia, Primary, 26
Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis, Rhinitis, Recurrent respiratory ... OMIM:615500
C1Q Deficiency 2
Discoid lupus rash, Sepsis, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Arthriti... OMIM:620321
Pancreatic insufficiency, combined exocrine
Hypoproteinemia, Congestive heart failure 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 otitis media, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis OMIM:613193
Ciliary Dyskinesia, Primary, 5
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis, Chronic rhi... OMIM:608647
Mohr-Tranebjaerg Syndrome
Optic atrophy, Mental deterioration, Prelingual sensorineural hearing impairment, Abnormality of ... ORPHA:52368
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... OMIM:610489
Alkaptonuria
Prostatitis, Hypothyroidism, Osteoarthritis, Arthritis ORPHA:56
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia, Hyperactive renin-angiotensin system, Abnormal female external genitalia morphology, I... ORPHA:90790
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Pneumonia, Decreased circulating IgG level, Sepsis, Chronic mucocutaneous candidiasis, Decreased ... ORPHA:276
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent enteroviral infections, Panhypogammaglobulinemia, Recurrent otitis... OMIM:601495
Scedosporiosis
Pneumonia, Sepsis, Bronchitis, Osteomyelitis, Arthralgia/arthritis, Sinusitis, Septic arthritis, ... ORPHA:449280
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Hyperglycemia OMIM:609812
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Decreased circulating IgG level, Recurrent upper respiratory tract infections... OMIM:616100
Dengue Fever
Epistaxis, Hypotension, Gastrointestinal hemorrhage, Cerebral hemorrhage, Hypoproteinemia ORPHA:99828
Autosomal Agammaglobulinemia
Sepsis, Bronchiectasis, Hepatitis, Recurrent respiratory infections, Osteomyelitis, Skin rash, Ag... ORPHA:33110
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Bronchiectasis, Chronic bronchitis OMIM:211400
49,Xxxyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:261534
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Hyperglycemia OMIM:618970
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Type 1 Diabetes Mellitus
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus OMIM:222100
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Inflammation of... OMIM:614700
Functioning Gonadotropic Adenoma
Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f... ORPHA:91348
Polyendocrine-Polyneuropathy Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Decreased testicular size, Ty... ORPHA:453533
Congenital Analbuminemia
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Low pulse pressure, Incre... ORPHA:86816
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia ORPHA:141152
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Increased circulating ferritin concentration, Increased total bilirubin, Decreas... OMIM:267700
Polyembryoma
Irregular menstruation, Increased serum serotonin, Abnormality of the endocrine system, Abnormal ... ORPHA:180229
Ciliary Dyskinesia, Primary, 15
Recurrent pneumonia, Recurrent otitis media, Chronic bronchitis, Chronic sinusitis, Recurrent res... OMIM:613808
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Keratitis, Eczematoid dermatitis, Recurrent otitis media, Increased circulating IgE level, Recurr... OMIM:618523
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Ciliary Dyskinesia, Primary, 12
Chronic otitis media, Chronic sinusitis, Chronic rhinitis, Recurrent respiratory infections, Bron... OMIM:612650
Ciliary Dyskinesia, Primary, 19
Recurrent otitis media, Chronic bronchitis, Recurrent sinusitis, Rhinitis, Recurrent respiratory ... OMIM:614935
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Bronchiectasis, Decreased circulating IgA level, Crohn's disease... OMIM:618394
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia OMIM:256300
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Esophagitis, Recurrent respiratory infec... ORPHA:3348
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Ciliary Dyskinesia, Primary, 51
Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis, Chronic rhinitis OMIM:620438
Interstitial Lung Disease 1
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Ele... OMIM:619611
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Decreased fertility, Abnormal circulating dehydroepia... ORPHA:90794
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent pneumoni... OMIM:619752
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Lymphadenitis, Chronic... ORPHA:911
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Johanson-Blizzard Syndrome
Hypoproteinemia, Diabetes mellitus, Sensorineural hearing impairment ORPHA:2315
Ménétrier Disease
Hypoalbuminemia, Gastrointestinal hemorrhage, Hypoproteinemia ORPHA:2494
Diabetes Mellitus, Permanent Neonatal, 3
Interictal epileptiform activity, Hyperglycemia, Type I diabetes mellitus, Glycosuria OMIM:618857
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Estrogen Resistance
Hyperinsulinemia, Increased serum estradiol, Polycystic ovaries, Increased circulating osteocalci... OMIM:615363
Infant Acute Respiratory Distress Syndrome
Pneumonia, Sepsis, Atelectasis, Respiratory tract infection, Pulmonary edema ORPHA:70587
Frasier Syndrome
Decreased serum estradiol, Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, G... ORPHA:347
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
Congenital Disorder Of Glycosylation, Type Ij
Hypsarrhythmia, Hypoproteinemia OMIM:608093
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Budd-Chiari syndrome, Pulmonary embolism, Hypoproteinemia, Hypoalbuminemia OMIM:226300
Immunodeficiency 12
Recurrent viral infections, Recurrent aphthous stomatitis, Complete or near-complete absence of s... OMIM:615468
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
Immunodeficiency 52
Recurrent pneumonia, Decreased circulating IgA level, Recurrent infections, Decreased circulating... OMIM:617514
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Recurrent viral infections, Periodontitis, Recurrent aphthous stomatitis, Recurrent in... ORPHA:486
Pulmonary Alveolar Proteinosis, Acquired
Pneumonia, Recurrent respiratory infections, Intraalveolar phospholipid accumulation, Lung abscess OMIM:610910
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Recurrent pneumonia, Sepsis, Lymphadenitis, Recurrent otitis med... OMIM:618986
Rigid Spine Syndrome
Pneumonia ORPHA:97244
Leukoencephalopathy With Vanishing White Matter 1
Primary amenorrhea, Premature ovarian insufficiency, Primary gonadal insufficiency, Secondary ame... OMIM:603896
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Decreased fertility in females, Female hypogonadi... ORPHA:91349
Mody
Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, ... ORPHA:552
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity, Sen... OMIM:601455
T-Cell Immunodeficiency With Thymic Aplasia
Thyroiditis, Pneumonia, Sepsis, Eczematoid dermatitis, Recurrent urinary tract infections, Recurr... ORPHA:83471
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Decreas... ORPHA:432
Immunodeficiency 58
Allergic rhinitis, Recurrent upper respiratory tract infections, Recurrent pneumonia, Chronic oti... OMIM:618131
T-Cell Immunodeficiency With Thymic Aplasia
Recurrent pneumonia, Recurrent viral infections, Eczematoid dermatitis, Pyoderma, Emphysema, Recu... OMIM:242700
Ciliary Dyskinesia, Primary, 30
Recurrent otitis media, Chronic sinusitis, Chronic bronchitis, Recurrent respiratory infections, ... OMIM:616037
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Recurrent respiratory infections, Bronchiectasis, Recurrent sinusitis OMIM:620197
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Recurrent aphthous stomatitis, Recurrent infections, Bronchiectasis, Chronic... OMIM:150550
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Sepsis, Recurrent pneumonia, Lymphadenit... ORPHA:51636
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Otitis media, Chronic bronchitis, Chronic sinusitis, Recurrent respiratory i... OMIM:613807
Surfactant Metabolism Dysfunction, Pulmonary, 2
Recurrent pneumonia, Spontaneous pneumothorax, Intralobular septal thickening, Intraalveolar phos... OMIM:610913
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:601596
Selective Igm Deficiency
Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Recurrent bronchitis, Cutaneous abscess, ... ORPHA:331235
Ciliary Dyskinesia, Primary, 16
Bronchiectasis, Chronic otitis media, Chronic sinusitis, Chronic rhinitis OMIM:614017
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Hypertension, Insulin-resistant diabetes mellitus, Hypertriglyceridemia OMIM:608600
Alg6-Cdg
Puberty and gonadal disorders, Increased circulating androgen concentration ORPHA:79320
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Increased total bilirubin, Increased circulating ferritin concentration, Hyponat... OMIM:603553
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Memory impairment, Congestive heart failure, Hyperglycemia, Ischemic stroke, Cerebral ... ORPHA:90065
Adenohypophysitis
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... ORPHA:95512
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Elevated circulat... OMIM:615895
Ciliary Dyskinesia, Primary, 22
Recurrent respiratory infections, Recurrent otitis media, Recurrent sinusitis, Chronic bronchitis... OMIM:615444
Panhypophysitis
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... ORPHA:95513
Pneumocystosis
Pleural effusion, Interstitial pneumonitis, Increased circulating antibody level, Multiple pulmon... ORPHA:723
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Heari... OMIM:600501
Perrault Syndrome 4
Decreased serum estradiol, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased... OMIM:615300
Aspergillosis
Pneumonia, Keratitis, Hepatitis, Increased circulating IgE level, Osteomyelitis, Pleural effusion... ORPHA:1163
Ciliary Dyskinesia, Primary, 1
Pneumonia, Bronchiectasis, Atelectasis, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis... OMIM:244400
Tularemia
Pneumonia, Cutaneous abscess, Pleural effusion, Otitis media, Skin rash, Increased circulating an... ORPHA:3392
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Micropenis, Increased serum testosterone level, Oligozoo... ORPHA:8
46,Xx Gonadal Dysgenesis
Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary, De... ORPHA:243
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Mental deterioration, Decreased nerve... ORPHA:206443
X-Linked Centronuclear Myopathy
Pneumonia, Recurrent respiratory infections ORPHA:596
Cleft Velum
Recurrent otitis media, Aspiration pneumonia ORPHA:99772
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Honeycomb lung, Abnormal pulmo... ORPHA:2032
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Recurrent fung... ORPHA:169090
Autosomal Recessive Spastic Paraplegia Type 26
Decreased serum testosterone concentration, Premature ovarian insufficiency ORPHA:101006
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration... ORPHA:361
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:99330
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Abnormal female external genitalia morphology, De... ORPHA:95699
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Bronchiectasis OMIM:619468
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Abdominal Obesity-Metabolic Syndrome 3
Hyperglycemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypercholester... OMIM:615812
Immunodeficiency 64 With Lymphoproliferation
Decreased circulating IgG level, Increased circulating IgA level, Increased circulating IgG level... OMIM:618534
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent aspiration pneumonia, Abnormal circulating interleukin concentration, Recurrent viral i... ORPHA:79124
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Abnormal auditory evoked potentials, Sensorineural ... ORPHA:529799
Ane Syndrome
Adrenocorticotropin deficient adrenal insufficiency, Decreased response to growth hormone stimula... ORPHA:157954
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Pneumonia, Decreased circulating IgA level, Chronic bronchitis, Sinusitis, Increased circulating ... OMIM:242860
Alpha-1-Antitrypsin Deficiency
Bronchiectasis, Panacinar emphysema, Chronic bronchitis OMIM:613490
Immunodeficiency 27A
Pneumonia, Increased inflammatory response, Salmonella osteomyelitis, Increased circulating IgG l... OMIM:209950
Staphylococcal Necrotizing Pneumonia
Pneumonia, Sepsis, Pleural effusion, Pneumothorax, Acute infectious pneumonia, Pulmonary pneumato... ORPHA:36238
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Bronchiectasis ORPHA:2375
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Sepsis, Interstitial pneumonitis ORPHA:231154
Sarcoidosis, Susceptibility To, 2
Emphysema, Pleural effusion, Pneumothorax, Erythema nodosum, Abnormal pulmonary interstitial morp... OMIM:612387
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu... ORPHA:79127
Chédiak-Higashi Syndrome
Epistaxis, Increased circulating ferritin concentration, Decreased nerve conduction velocity, Hyp... ORPHA:167
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent pneumonia, Adrenocorticotropin deficient adrenal insufficiency, Recurrent otitis media,... ORPHA:293978
Fusariosis
Pneumonia, Keratitis, Fasciitis, Osteomyelitis, Pleural effusion, Maculopapular exanthema, Myosit... ORPHA:228119
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Low-set ears, Hypoproteinemia, Hypocalcemia OMIM:235255
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Pneumonia, Recurrent pneumonia, Recurrent viral infections, Inflammatory abnormality of the skin,... OMIM:102700
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Eczematoid dermatitis, Congenital adrenal hyperplasia, Increased serum test... ORPHA:96181
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Mental deterioration, ... ORPHA:206436
Ciliary Dyskinesia, Primary, 2
Recurrent respiratory infections, Bronchiectasis, Otitis media, Sinusitis OMIM:606763
Ciliary Dyskinesia, Primary, 38
Rhinitis, Chronic otitis media, Bronchiectasis, Chronic sinusitis OMIM:618063
Common Variable Immunodeficiency
Pneumonia, Bronchiectasis, Emphysema, Recurrent bronchitis, Otitis media, Recurrent respiratory i... ORPHA:1572
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Delayed somatosensory central conduct... OMIM:610532
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Interstitial pneumonitis, Resp... OMIM:616433
Immunodeficiency 92
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... OMIM:619652
Combined Oxidative Phosphorylation Deficiency 51
Aspiration pneumonia OMIM:619057
Riddle Syndrome
Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Bron... ORPHA:420741
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Recurrent infections, Bronchiectasis OMIM:615434
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Recurrent upper respiratory tract infections, Recurrent viral infections, Recurrent ur... OMIM:613179
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Absence of se... ORPHA:2232
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Interstitial pneumonitis OMIM:620296
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Increased serum testosterone level, Primary... ORPHA:247768
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Recurrent aspiration pneumonia OMIM:619971
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Mental deterioration, EEG abnormality... ORPHA:206448
Graft Versus Host Disease
Pneumonia, Inflammatory abnormality of the skin, Fasciitis, Acute hepatitis, Chronic hepatitis, R... ORPHA:39812
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia ORPHA:90117
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Low-set ears, Hypoproteinemia, Hypocalcemia ORPHA:1655
Sporadic Creutzfeldt-Jakob Disease
Recurrent aspiration pneumonia, Recurrent infections, Sepsis ORPHA:204
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Pneumonia, Sepsis, Inflammatory abnormality of the skin, Eczematoid dermatitis, Recurrent respira... ORPHA:37042
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Absent brainstem auditory responses, Increased circulating ferritin concentration, Vestibular are... ORPHA:3240
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Decreased circulat... OMIM:616005
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Eczematoid dermatitis, Interstitial pneumonitis, De... OMIM:615952
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:619260
Yellow Nail Syndrome
Recurrent respiratory infections, Sinusitis, Rhinitis, Pleuritis, Bronchiectasis, Neoplasm of the... ORPHA:662
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Increased circulating interleukin 8 concentration, Reduced circulating inter... OMIM:301220
Timothy Syndrome
Pneumonia, Recurrent infections, Bronchitis OMIM:601005
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Recurrent upper respiratory tract infections, Sepsis, Panhypogammaglobulinemia, Increa... OMIM:602450
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Bacterial Toxic-Shock Syndrome
Pneumonia, Sepsis, Hepatitis, Recurrent urinary tract infections, Fasciitis, Osteomyelitis, Skin ... ORPHA:36234
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Pneumonia, Recurrent upper respiratory tract infections, Panhypogammaglobulinemia, Recurrent otit... OMIM:600802
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased serum estradiol, Decreased testicular size, Hypogonadotropic hypogonadism, Primary amen... OMIM:604168
45,X/46,Xy Mixed Gonadal Dysgenesis
Recurrent otitis media, Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnor... ORPHA:1772
Mccune-Albright Syndrome
Precocious puberty, Irregular menstruation, Increased circulating cortisol level, Increased circu... ORPHA:562
Primary Ciliary Dyskinesia
Recurrent mycobacterial infections, Bronchiectasis, Atelectasis, Recurrent otitis media, Pulmonar... ORPHA:244
Omenn Syndrome
Pneumonia, Recurrent viral infections, Recurrent fungal infections, Erythroderma, Recurrent bacte... OMIM:603554
Good Syndrome
Recurrent urinary tract infections, Recurrent skin infections, Sinusitis, Recurrent respiratory i... ORPHA:169105
Pgm3-Cdg
Allergic rhinitis, Recurrent viral infections, Increased circulating IgE level, Esophagitis, Incr... ORPHA:443811
Rabson-Mendenhall Syndrome
Precocious puberty, Clitoral hypertrophy, Long penis, Insulin-resistant diabetes mellitus, Fastin... ORPHA:769
Avian Influenza
Pneumonia, Myelitis, Sepsis, Hepatitis, Pleural effusion, Infectious encephalitis, Pneumothorax, ... ORPHA:454836
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology ORPHA:2357
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased response to growth horm... ORPHA:3464
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Type I diabetes mellitus, Decreased serum testost... ORPHA:3044
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Autonomic bl... ORPHA:99027
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Postprandial hyperglycemia, Insulin resistance, Hypotriglyceridemia, Glycosuria,... ORPHA:2298
Alpha-Mannosidosis, Adult Form
Pneumonia, Recurrent infections, Recurrent gastroenteritis ORPHA:309288
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased serum testosterone conc... OMIM:241080
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia ORPHA:2590
Omenn Syndrome
Pneumonia, Sepsis, Erythroderma, Thyroiditis ORPHA:39041
Slc35A1-Cdg
Pneumonia, Pulmonary hemorrhage ORPHA:238459
Liver Disease, Severe Congenital
Elevated circulating alpha-fetoprotein concentration, Increased circulating ferritin concentratio... OMIM:619991
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen... ORPHA:465508
Sweet Syndrome
Abnormal circulating interleukin concentration, Inflammation of the large intestine, Acne inversa... ORPHA:3243
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... OMIM:305400
Bloom Syndrome
Pneumonia, Decreased circulating IgG level, Cheilitis, Recurrent tonsillitis, Bronchitis, Recurre... ORPHA:125
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Sensorineural hearing impairment, Absent brainstem auditory ... ORPHA:101085
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration OMIM:609195
Cerebrotendinous Xanthomatosis
Optic atrophy, Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality... ORPHA:909
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Ovarian cyst, Enlarged polycystic ovaries, Increased serum testosterone... ORPHA:64739
Dend Syndrome
Elevated hemoglobin A1c, Hypsarrhythmia, Thickened ears, Hyperglycemia ORPHA:79134
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Nocardiosis
Pneumonia, Sepsis, Lymphadenitis, Cutaneous abscess, Keratitis, Emphysema, Osteomyelitis, Pleural... ORPHA:31204
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Decreased serum testosterone conc... ORPHA:2959
Cockayne Syndrome Type 1
Optic atrophy, Hearing impairment, Abnormality of peripheral nerve conduction, Absent brainstem a... ORPHA:90321
Hereditary Pulmonary Alveolar Proteinosis
Crazy paving pattern, Acute infectious pneumonia ORPHA:264675
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy OMIM:616881
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... OMIM:201750
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Interstitial pneumonitis, Abnormal pulmonary interstitial morphology, Intraalveolar phospholipid ... ORPHA:217563
Oculopharyngodistal Myopathy
Recurrent aspiration pneumonia ORPHA:98897
Postinfectious Vasculitis
Pneumonia, Recurrent mycobacterial infections, Bacterial endocarditis, Inflammatory abnormality o... ORPHA:48435
Severe Acute Respiratory Syndrome
Acute infectious pneumonia ORPHA:140896
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Glomerulonephritis, Recurrent skin infections, Vaginitis, Ost... ORPHA:2968
Immunodeficiency 82 With Systemic Inflammation
Pneumonia, Decreased circulating total IgG, Pustular rash, Hepatitis, Bronchitis, Recurrent otiti... OMIM:619381
Meconium Aspiration Syndrome
Pneumothorax, Atelectasis, Aspiration pneumonia ORPHA:70588
Sheehan Syndrome
Secondary growth hormone deficiency, Decreased serum estradiol, Adrenocorticotropin deficient adr... ORPHA:91355
Pseudoleprechaunism Syndrome, Patterson Type
Premature adrenarche, Increased circulating androgen concentration, Diabetes mellitus ORPHA:2976
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Keratoconjunctivitis, Fibrocys... OMIM:158310
Pyruvate Dehydrogenase E1-Alpha Deficiency
Recurrent aspiration pneumonia, Recurrent infections ORPHA:79243
Mitochondrial Complex I Deficiency, Nuclear Type 33
Bronchiectasis, Aspiration pneumonia OMIM:618253
Drug Reaction With Eosinophilia And Systemic Symptoms
Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Erythroderma, M... ORPHA:139402
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Recurrent viral infections, Decreased circulating total IgG, Recurrent urinary tract infections, ... ORPHA:221139
Congenital Multicore Myopathy With External Ophthalmoplegia
Pneumonia, Recurrent respiratory infections ORPHA:98905
Q Fever
Pneumonia, Hepatitis, Osteomyelitis, Pleural effusion, Cholecystitis, Increased circulating antib... ORPHA:781
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration OMIM:201100
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hearing impairment, Decreased nerve conduction velocity, Short-segment aganglionic megacolon, Por... OMIM:609136
Cushing Syndrome Due To Ectopic Acth Secretion
Increased circulating cortisol level, Increased urinary cortisol level, Adrenal hyperplasia, Amen... ORPHA:99889
Roifman-Chitayat Syndrome
Pneumonia, Arthritis OMIM:613328
Alpha-1-Antitrypsin Deficiency
Bronchitis, Hepatitis, Emphysema, Panniculitis, Bronchiectasis ORPHA:60
Pierson Syndrome
Retinal hemorrhage, Hypertension, Hypoproteinemia OMIM:609049
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia OMIM:253700
Cockayne Syndrome A
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorin... OMIM:216400
Brucellosis
Arteritis, Sacroiliac arthritis, Knee osteoarthritis, Glomerulonephritis, Endocarditis, Epididymi... ORPHA:1304
Juvenile Neuronal Ceroid Lipofuscinosis
Aspiration pneumonia ORPHA:79264
Juvenile Polyposis Syndrome
Low-set ears, Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Transient ischemic attack, Sp... ORPHA:2929
Shigellosis
Pneumonia, Sepsis, Ulcerative colitis, Peritonitis, Arthritis, Myocarditis, Conjunctivitis, Acute... ORPHA:810
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Malakoplakia
Inflammatory abnormality of the skin, Urinary bladder inflammation, Abnormality of the menstrual ... ORPHA:556
Spondyloenchondrodysplasia
Pneumonia, Hepatitis, Skin rash, Arthritis, Juvenile rheumatoid arthritis, Recurrent infections ORPHA:1855
Mogs-Cdg
Optic atrophy, Absent brainstem auditory responses, Abnormality of visual evoked potentials, Sens... ORPHA:79330
Infection-Related Hemolytic Uremic Syndrome
Abnormal circulating chemokine concentration, Pneumonia, Septic arthritis, Respiratory tract infe... ORPHA:544482
Meningioma
Secondary growth hormone deficiency, Decreased serum estradiol, Hypothalamic hypothyroidism, Incr... ORPHA:2495
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Recurrent sinusitis, Pulmonary artery s... OMIM:615067
Lymphatic Filariasis
Lymphadenitis, Abnormal scrotum morphology, Orchitis, Knee osteoarthritis, Vaginal hydrocele, Glo... ORPHA:2035
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Rheumatoid arthritis, Recurrent otitis media, Recurrent sinusitis, Juvenile rheumatoid... OMIM:607944
Cockayne Syndrome B
Optic atrophy, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorin... OMIM:133540
Listeriosis
Pneumonia, Arteritis, Sepsis, Osteomyelitis, Pyelonephritis, Cholecystitis, Infectious encephalit... ORPHA:533
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 bacterial infections, Sepsis, Aspiration pneumonia, Recurrent urinary tract infections OMIM:617053
Trisomy 10P
Low-set ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low voltage EEG, E... ORPHA:171929
Mend Syndrome
Aortic valve stenosis, Low-set ears, Abnormal auditory evoked potentials, Elevated 8(9)-cholesten... ORPHA:401973
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... ORPHA:572333
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Em... ORPHA:95430
Coccidioidomycosis
Pneumonia, Folliculitis, Exudative pleural effusion, Morbilliform rash, Osteomyelitis, Panniculit... ORPHA:228123
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Pancreatitis, Aspiration pneumonia ORPHA:431361
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Uveitis, Erysipelas, Fasciitis, Skin rash, Orchitis, Myositis, Peritonitis, Arthritis, Conjunctiv... ORPHA:32960
Congenital Syphilis
Pneumonia, Keratitis, Synovitis, Pancreatitis, Myocarditis, Rhinitis, Maculopapular exanthema, Uv... ORPHA:499009
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia ORPHA:216866
Adult-Onset Still Disease
Hepatitis, Interstitial pneumonitis, Skin rash, Arthritis, Arthralgia/arthritis, Myocarditis, Ple... ORPHA:829
Zygomycosis
Nephritis, Hepatitis, Atelectasis, Fasciitis, Pleural effusion, Infectious encephalitis, Pustule,... ORPHA:73263
Gm1 Gangliosidosis
Recurrent respiratory infections, Infectious encephalitis, Aspiration pneumonia ORPHA:354
Aicardi-Goutieres Syndrome 7
Atrophic gastritis, Pneumonia, Atopic dermatitis, Hepatitis, Chilblains, Skin rash, Increased cir... OMIM:615846
Cystic Fibrosis
Recurrent respiratory infections, Recurrent Aspergillus infections, Recurrent Burkholderia cepaci... ORPHA:586
Psoriasis-Related Juvenile Idiopathic Arthritis
Uveitis, Abnormality of tumor necrosis factor secretion, Sacroiliac arthritis, Psoriasiform derma... ORPHA:85436
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent aspiration pneumonia, Recurrent pneumonia OMIM:300472
Bronchial Neuroendocrine Tumor
Pneumonia, Abnormal pulmonary interstitial morphology ORPHA:97287
Familial Mediterranean Fever
Erysipelas, Crohn's disease, Orchitis, Peritonitis, Arthritis, Pericarditis OMIM:249100
Infantile Neuroaxonal Dystrophy
Aspiration pneumonia ORPHA:35069
Shwachman-Diamond Syndrome
Pneumonia, Recurrent viral infections, Sepsis, Eczematoid dermatitis, Osteomyelitis, Skin rash, S... ORPHA:811
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Tracheobronchial leiomyomatosis, Recurrent respiratory infections, Keratitis, Aspiration pneumonia ORPHA:1018
Ectodermal Dysplasia And Immunodeficiency 2
Defective production of NFKB1-dependent cytokines, Recurrent respiratory infections, Recurrent in... OMIM:612132
Immunoglobulin A Vasculitis
Episcleritis, Skin rash, Infectious encephalitis, Pustule, Orchitis, Arthritis ORPHA:761
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Atrial Septal Defect, Coronary Sinus Type
Recurrent bacterial infections, Pneumonia, Anomalous pulmonary venous return ORPHA:99104
Behçet Disease
Recurrent aphthous stomatitis, Infectious encephalitis, Increased inflammatory response, Myositis... ORPHA:117
Alpha-Mannosidosis, Infantile Form
Pneumonia, Recurrent urinary tract infections, Otitis media, Recurrent gastroenteritis, Recurrent... ORPHA:309282
Familial Mediterranean Fever
Erysipelas, Skin rash, Orchitis, Peritonitis, Pancreatitis, Arthritis, Osteoarthritis, Pericarditis 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
Pneumonia, Pleural effusion, Pulmonary edema, Glomerulonephritis, Increased circulating interleuk... ORPHA:340
Proximal Spinal Muscular Atrophy
Recurrent infections due to aspiration, Recurrent aspiration pneumonia ORPHA:70
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Interstitial pneumonitis ORPHA:454831
Cystic Fibrosis
Recurrent pneumonia, Chronic sinusitis, Pancreatitis, Recurrent bronchopulmonary infections, Bron... OMIM:219700
Mucopolysaccharidosis Type 3
Recurrent tonsillitis, Aspiration pneumonia, Respiratory tract infection, Otitis media, Recurrent... ORPHA:581
Robinow Syndrome
Webbed penis, Small scrotum, Decreased serum testosterone concentration, External genital hypopla... ORPHA:97360
Gaucher Disease, Type Ii
Recurrent aspiration pneumonia, Bronchiolitis OMIM:230900
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Hypospadias, Decreased serum testosterone concentration, Absent scrotum, Cryptorchidism, Keratoco... ORPHA:495875
Bickerstaff Brainstem Encephalitis
Pneumonia, Respiratory tract infection, Recurrent gastroenteritis ORPHA:79138
Steinert Myotonic Dystrophy