Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
improved glucose tolerance Tmprss2tm2b(EUCOMM)Hmgu HOM Early adult 1.14×10-05
abnormal auditory brainstem response Tmprss2tm2b(EUCOMM)Hmgu HOM   Early adult 5.75×10-09
increased fasting circulating glucose level Tmprss2tm2b(EUCOMM)Hmgu HOM Early adult 1.64×10-05
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
increased circulating total protein level Tmprss2tm2b(EUCOMM)Hmgu HOM Early adult 1.17×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

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 Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Immunophenotyping

Panel A FCS file(s)

6 Images

Immunophenotyping

Panel B FCS file(s)

6 Images

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
Immunodeficiency 11
Recurrent respiratory infections, Pneumonia, Decreased circulating antibody level OMIM:615206
Prostatic Hyperplasia, Benign
Benign prostatic hyperplasia OMIM:600082
Prostate Cancer
Prostate cancer OMIM:176807
Prostate Cancer, Hereditary, X-Linked 1
Prostate cancer OMIM:300147
Immunodeficiency 51
Recurrent cutaneous fungal infections, Recurrent Staphylococcus aureus infections, Recurrent otit... OMIM:613953
Hypersecretion Of Adrenal Androgens, Familial
Premature pubarche, Increased circulating androgen concentration, Amenorrhea, Adrenal overactivity OMIM:145295
Immunodeficiency 48
Panhypogammaglobulinemia, Recurrent candida infections, Eczematoid dermatitis, Pneumonia OMIM:269840
Immunodeficiency 32B
Sinusitis, Recurrent infections, Pneumonia, Bronchiectasis, Recurrent respiratory infections OMIM:226990
Premature Ovarian Failure 17
Decreased antimullerian hormone level, Elevated circulating luteinizing hormone level, Decreased ... OMIM:619146
Wolfram-Like Syndrome, Autosomal Dominant
Diabetes mellitus, Glucose intolerance, Impaired glucose tolerance, Optic atrophy, Hearing impair... OMIM:614296
Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Sinusitis, Pneumonia, Recurrent bronchitis, Otitis media OMIM:312863
46,Xy Sex Reversal 11
Decreased antimullerian hormone level, Aplasia of the uterus, Primary amenorrhea, Elevated circul... OMIM:273250
Premature Ovarian Failure 16
Elevated circulating follicle stimulating hormone level, Premature ovarian insufficiency, Decreas... OMIM:618723
Ciliary Dyskinesia, Primary, 44
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Bronchiectasis, Re... OMIM:618781
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Chronic pulmonary obstruction, Chr... OMIM:253240
Young Syndrome
Bronchiectasis, Congenital pulmonary airway malformation, Recurrent sinopulmonary infections, Rec... OMIM:279000
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrhea, Cryptorchidism, Micro... OMIM:618841
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619613
Ciliary Dyskinesia, Primary, 21
Recurrent otitis media, Recurrent pneumonia, Decreased nasal nitric oxide, Ciliary dyskinesia, Br... OMIM:615294
Mounier-Kühn Syndrome
Recurrent bronchopulmonary infections, Pneumonia, Recurrent respiratory infections, Bronchitis ORPHA:3347
Tracheopathia Osteoplastica
Recurrent pneumonia, Cough, Wheezing, Dyspnea OMIM:189961
Deafness, Autosomal Recessive 9
Sensorineural hearing impairment, Absent brainstem auditory responses OMIM:601071
Immunodeficiency 104
Pneumonia, Recurrent opportunistic infections, Eczema, Otitis media, Failure to thrive secondary ... OMIM:608971
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections, Bro... OMIM:608957
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Recurrent otitis media, Pneumonia, Delayed puberty, Infectious encephalitis, Prostatit... OMIM:307200
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis, Decreased serum te... OMIM:614841
Ciliary Dyskinesia, Primary, 9
Recurrent otitis media, Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Cough, Bronchi... OMIM:612444
Ciliary Dyskinesia, Primary, 33
Recurrent otitis media, Recurrent pneumonia, Chronic rhinitis, Cough, Recurrent bronchitis, Bronc... OMIM:616726
Ciliary Dyskinesia, Primary, 42
Pneumonia, Chronic rhinitis, Decreased nasal nitric oxide, Reduced forced vital capacity, Bronchi... OMIM:618695
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Hypercholesterolemia, Sudden cardiac death, Myocardial infarction, Hypertension, ... OMIM:610947
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus OMIM:613370
Ciliary Dyskinesia, Primary, 23
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Recurrent p... OMIM:615451
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Recurrent upper respiratory tract infections, Pneumonia, Atopic dermatitis OMIM:618806
Ciliary Dyskinesia, Primary, 46
Recurrent otitis media, Recurrent pneumonia, Reduced forced expiratory volume in one second, Redu... OMIM:619436
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgG level, Recurrent ... OMIM:613494
Tracheobronchomegaly
Recurrent bronchopulmonary infections, Bronchiectasis OMIM:275300
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Purulent rhinitis, Pneumonia, Recurrent opportunistic infections, Conjunctivitis, Panhypogammaglo... OMIM:601457
Pituicytoma
Central diabetes insipidus, Hypogonadotropic hypogonadism, Decreased female libido, Amenorrhea, A... ORPHA:251623
Ciliary Dyskinesia, Primary, 3
Recurrent otitis media, Decreased nasal nitric oxide, Bronchiectasis, Ciliary dyskinesia, Recurre... OMIM:608644
Ciliary Dyskinesia, Primary, 39
Recurrent otitis media, Decreased nasal nitric oxide, Cough, Rhinorrhea, Bronchiectasis, Chronic ... OMIM:618254
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Recurrent respiratory infections, ... OMIM:615872
Gonadoblastoma
Abnormality of the ovary, Increased serum testosterone level, Ovarian gonadoblastoma, Gonadal cal... ORPHA:206484
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Recurrent infections, Pneumonia, Decreased circulating antibody level, Chronic bronchitis OMIM:614069
Ciliary Dyskinesia, Primary, 27
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615504
Ciliary Dyskinesia, Primary, 41
Recurrent sinusitis, Recurrent otitis media, Impaired nasal mucociliary clearance, Bronchiectasis OMIM:618449
Complement Factor B Deficiency
Peritonitis, Recurrent meningococcal disease, Recurrent bacterial infections, Pneumonia OMIM:615561
Idiopathic Bronchiectasis
Abnormal respiratory system physiology, Emphysema, Reduced FEV1/FVC ratio, Crackles, Respiratory ... ORPHA:60033
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Recurrent viral infections, Asthma, Onychomycosis, Recurrent respiratory infections, R... ORPHA:217390
Ciliary Dyskinesia, Primary, 32
Immotile cilia, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Neonatal re... OMIM:616481
Acute Lung Injury
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Acute pan... ORPHA:178320
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Nonproductive cough, Reduced FEV1/FVC ratio, Hypoxemia, Pneumonia, Airway obstruction, Reduced fo... ORPHA:1303
Gaisböck Syndrome
Hypovolemia, Hypercholesterolemia, Increased circulating renin level, Elevated diastolic blood pr... ORPHA:90041
Ciliary Dyskinesia, Primary, 36, X-Linked
Cough, Bronchiectasis, Recurrent respiratory infections, Recurrent sinusitis, Neonatal respirator... OMIM:300991
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Abnormal sperm morphology, Female hypogon... ORPHA:52901
Melioidosis
Pneumonia, Parotitis, Cutaneous abscess, Osteoarthritis, Prostatitis, Hepatitis, Septic arthritis... ORPHA:31202
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:607594
Immunodeficiency 11B With Atopic Dermatitis
Asthma, Atopic dermatitis, Pneumonia OMIM:617638
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Micropenis, Decreased circ... OMIM:228300
Mendelian Susceptibility To Mycobacterial Diseases Due To Complete Il12Rb1 Deficiency
Abnormal circulating interleukin concentration, Lymphadenitis, Pneumonia, Recurrent mycobacterial... ORPHA:319552
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Primary amenorrhea, Elevated circulating luteinizing hormo... OMIM:619665
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Primary gonadal insufficiency, Aplasia of the uterus, Female hypog... ORPHA:755
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Sensorineural hearing impairment, Hypoproteinemia, Tachycardia OMIM:221400
Bronchiectasis With Or Without Elevated Sweat Chloride 3
Chronic bronchitis, Bronchiectasis OMIM:613071
Bronchiectasis With Or Without Elevated Sweat Chloride 1
Chronic bronchitis, Bronchiectasis OMIM:211400
Bronchiectasis With Or Without Elevated Sweat Chloride 2
Chronic bronchitis, Bronchiectasis OMIM:613021
Ciliary Dyskinesia, Primary, 28
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:615505
Ciliary Dyskinesia, Primary, 7
Recurrent otitis media, Restrictive ventilatory defect, Reduced FEV1/FVC ratio, Recurrent pneumon... OMIM:611884
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Hypoplasia of the uterus, Infertility, Primary amenorrhea, Gonadal dysgenesis with female appeara... ORPHA:168563
Adult Acute Respiratory Distress Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:70578
Microsporidiosis
Cholangitis, Prostatitis, Hepatitis, Pancreatitis, Keratitis, Abnormality of the endometrium, Inf... ORPHA:2552
Complete Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Abnormality of the uterine cervix, Aplasia of the uterus, ... ORPHA:99429
Premature Ovarian Failure 8
Primary amenorrhea, Elevated circulating luteinizing hormone level, Decreased serum estradiol, Ov... OMIM:615723
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent infections, Recurrent pneumonia, Recurrent skin infections, Decreased circulating antib... OMIM:616576
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Facial palsy, Decreased motor nerve conduction velocity OMIM:601382
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Chronic otitis media, Abnormal muc... OMIM:619466
Partial Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Male sexual dysfunction, Primary amenorrhea, Elevated circ... ORPHA:90797
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Primary adrenal insufficiency, Irregular menstruation, Primary amenorrhea, Elevated circulating l... ORPHA:90793
Ciliary Dyskinesia, Primary, 20
Recurrent otitis media, Recurrent pneumonia, Respiratory insufficiency due to defective ciliary c... OMIM:615067
Ciliary Dyskinesia, Primary, 11
Immotile cilia, Chronic rhinitis, Chronic bronchitis, Decreased nasal nitric oxide, Bronchiectasi... OMIM:612649
Ciliary Dyskinesia, Primary, 45
Immotile cilia, Recurrent respiratory infections, Chronic rhinitis, Bronchiectasis OMIM:618801
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating IgG level, Recurrent abscess formation, Recurrent pneumonia, Recurrent infe... ORPHA:169160
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent pneumonia, Decreased ... OMIM:300400
Immunodeficiency 65, Susceptibility To Viral Infections
Recurrent gastroenteritis, Stomatitis, Recurrent viral infections, Bronchiectasis OMIM:618648
Testicular Agenesis
Hypoplasia of the uterus, Absent testis, Micropenis, Decreased serum testosterone concentration, ... ORPHA:325124
Immunodeficiency 14A, Autosomal Dominant
Recurrent ear infections, Decreased specific pneumococcal antibody level, Increased circulating I... OMIM:615513
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Reduced C-peptide level, Elevated hemoglobin A1c, Hyperglycemia, Type I di... OMIM:618858
Obesity Due To Sim1 Deficiency
Cognitive impairment, Memory impairment, Hyperinsulinemia, Hypotension, Abnormal autonomic nervou... ORPHA:369873
Caspase 8 Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Pneumonia, Asthma, Decreased ci... OMIM:607271
X-Linked Intellectual Disability, Van Esch Type
Cryptorchidism, Decreased serum testosterone concentration, Decreased testicular size, Retractile... ORPHA:163976
Bdv Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... OMIM:619326
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Increased circulating antibody level, Glomerulonephritis, Pneumonia OMIM:247800
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Cryptorchidism, Decreased fertility in males, Male pseudohermaphroditism, Abnormal circulating de... ORPHA:90791
Ciliary Dyskinesia, Primary, 24
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Recurrent sinusitis, Rhinitis OMIM:615481
Obesity Due To Congenital Leptin Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum... ORPHA:66628
Idiopathic Achalasia
Recurrent aspiration pneumonia, Cough, Wheezing, Bronchitis ORPHA:930
Optic Atrophy 8
Sensorineural hearing impairment, Abnormal auditory evoked potentials, Mitral regurgitation, Prol... OMIM:616648
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Chronic rhinitis, Dyspnea, Atelectasis, Bronchiecta... ORPHA:922
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level, Hypsarrhythmia OMIM:618856
46,Xx Sex Reversal 5
Increased serum testosterone level, Urogenital sinus anomaly, Ambiguous genitalia OMIM:618901
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Recurrent otitis media, Infectious encephalitis, Prostatitis, Bronchiectasis... OMIM:300755
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Irregular menstruation, Testicular adrenal rest tumor, Decreased circulating renin level, Increas... ORPHA:90795
Ciliary Dyskinesia, Primary, 35
Chronic rhinitis, Cough, Bronchiectasis, Recurrent respiratory infections, Chronic sinusitis OMIM:617092
Ciliary Dyskinesia, Primary, 25
Immotile cilia, Sinusitis, Bronchiectasis, Ciliary dyskinesia, Recurrent respiratory infections, ... OMIM:615482
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating IgG level, Recurrent otitis media, Viral hepatitis, Cholangitis, Recurrent ... ORPHA:183675
Insulinomatosis And Diabetes Mellitus
Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:147630
Ciliary Dyskinesia, Primary, 26
Immotile cilia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary cleara... OMIM:615500
Cholesterol Pneumonia
Tachypnea, Pneumonia, Cough OMIM:215030
Obesity Due To Leptin Receptor Gene Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum... ORPHA:179494
Ciliary Dyskinesia, Primary, 43
Recurrent upper respiratory tract infections, Chronic rhinitis, Neonatal respiratory distress, Br... OMIM:618699
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Neonatal hypoglycemia, Postprandial hyperglycemia OMIM:240600
Diabetes Mellitus, Permanent Neonatal, 1
Reduced C-peptide level, Elevated hemoglobin A1c, Diabetes mellitus, Hyperglycemia, Type I diabet... OMIM:606176
Ciliary Dyskinesia, Primary, 5
Recurrent otitis media, Recurrent pneumonia, Respiratory insufficiency due to defective ciliary c... OMIM:608647
Muscular Hypertonia, Lethal
Pneumonia OMIM:254120
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Tracheobronchopathia Osteochondroplastica
Recurrent pneumonia, Pneumonia, Atelectasis, Recurrent respiratory infections, Productive cough, ... ORPHA:3348
Ciliary Dyskinesia, Primary, 12
Chronic rhinitis, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Chronic s... OMIM:612650
Bare Lymphocyte Syndrome, Type I
Emphysema, Bronchiolitis, Bronchiectasis, Recurrent bronchitis, Chronic otitis media, Chronic sin... OMIM:604571
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Abnormality of reproductive system physiolog... ORPHA:1501
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Shock, Hypoalbuminemia OMIM:600351
Immunodeficiency 72 With Autoinflammation
Recurrent otitis media, Recurrent infections, Increased circulating IgG level, Bronchiectasis, He... OMIM:618982
Whim Syndrome 1
Decreased circulating IgG level, Recurrent upper respiratory tract infections, Recurrent bacteria... OMIM:193670
Immunodeficiency 56
Recurrent otitis media, Recurrent pneumonia, Recurrent infections, Cholangitis, Bronchiectasis, R... OMIM:615207
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Recurrent otitis media, Recurrent infections, Recurrent skin infections, Bronchiectasis, Eczema, ... OMIM:618282
Diabetes Mellitus, Transient Neonatal, 3
Maternal diabetes, Elevated hemoglobin A1c, Hyperglycemia, Transient neonatal diabetes mellitus OMIM:610582
Ciliary Dyskinesia, Primary, 34
Chronic rhinitis, Decreased nasal nitric oxide, Bronchiectasis, Recurrent bronchitis, Recurrent s... OMIM:617091
Pulmonary Alveolar Proteinosis, Acquired
Restrictive ventilatory defect, Pneumonia, Hypoxemia, Lung abscess, Intraalveolar phospholipid ac... OMIM:610910
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon, Hearing impairment OMIM:600501
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Decreased serum testosterone concentration, Increased circulating gonadotropin le... OMIM:300869
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent oral herpes, Recurrent otitis media, Increased circulating IgG level, Increased circula... OMIM:619220
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormal circulating hormone concentration, Abnormality of the ov... ORPHA:314478
Immunodeficiency With Hyper-Igm, Type 4
Recurrent upper respiratory tract infections, Recurrent bacterial infections, Bronchiectasis, Ost... OMIM:608184
46,Xx Sex Reversal 2
Perineal hypospadias, Small scrotum, Ovotestis, Hypoplasia of the vagina, Azoospermia, Micropenis... OMIM:278850
X-Linked Intellectual Disability, Cilliers Type
Cryptorchidism, Decreased serum testosterone concentration, Decreased testicular size, Male hypog... ORPHA:163971
Ciliary Dyskinesia, Primary, 15
Recurrent otitis media, Recurrent pneumonia, Chronic bronchitis, Cough, Rhinorrhea, Bronchiectasi... OMIM:613808
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Upper airway obstruction, Respiratory distress, Dyspnea ORPHA:141152
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Aspiration pneumonia OMIM:619477
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal circ... ORPHA:90796
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased ser... ORPHA:251510
Igg4-Related Kidney Disease
Urinary bladder inflammation, Sclerosing cholangitis, Abnormality of the anterior pituitary, Lymp... ORPHA:449395
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Increased circulati... OMIM:243700
Interstitial Lung Disease 1
Restrictive ventilatory defect, Elevated bronchoalveolar lavage fluid neutrophil proportion, Nons... OMIM:619611
Generalized Glucocorticoid Resistance Syndrome
Infertility, Oligomenorrhea, Increased urinary cortisol level, Acne, Decreased circulating aldost... ORPHA:786
Immunodeficiency, Common Variable, 2
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial... OMIM:240500
Retinal Dystrophy And Microvillus Inclusion Disease
Recurrent lower respiratory tract infections, Recurrent upper respiratory tract infections, Bronc... OMIM:619446
Granulomatosis With Polyangiitis
Sinusitis, Abnormality of the hypothalamus-pituitary axis, Diabetes insipidus, Inflammatory abnor... ORPHA:900
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
49,Xxxyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Micropenis, Decreased serum testos... ORPHA:261534
Pneumocystosis
Nonproductive cough, Respiratory failure requiring assisted ventilation, Hypoxemia, Interstitial ... ORPHA:723
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia ORPHA:158048
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Ciliary Dyskinesia, Primary, 13
Immotile cilia, Recurrent otitis media, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis... OMIM:613193
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Immunodeficiency 13
Recurrent otitis media, Recurrent upper respiratory tract infections, Recurrent pneumonia, Bronch... OMIM:615518
Immunodeficiency 75
Recurrent respiratory infections, Bronchiectasis OMIM:619126
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Sensorineural hearing impairment, Cardiomyopathy, Diabetes mellitus, ... ORPHA:1215
Ciliary Dyskinesia, Primary, 17
Chronic rhinitis, Cough, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, Ch... OMIM:614679
Ciliary Dyskinesia, Primary, 19
Immotile cilia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary cleara... OMIM:614935
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Recurrent infections, Bronchiolitis, Interstitial pneumonitis, D... OMIM:614878
Transient Neonatal Diabetes Mellitus
Diabetic ketoacidosis, Transient neonatal diabetes mellitus, Maternal diabetes, Maturity-onset di... ORPHA:99886
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Scedosporiosis
Abnormal respiratory system physiology, Sinusitis, Pneumonia, Bronchial breath sound, Respiratory... ORPHA:449280
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypoxemia, Tachypnea, Respiratory failure, Respiratory tract infection, Atelectasis, S... ORPHA:70587
Ciliary Dyskinesia, Primary, 30
Recurrent otitis media, Respiratory insufficiency due to defective ciliary clearance, Chronic bro... OMIM:616037
Functioning Gonadotropic Adenoma
Infertility, Panhypopituitarism, Adrenocorticotropic hormone deficiency, Ovarian cyst, Oligosperm... ORPHA:91348
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypoproteinemia, Ventricular fibrillation, Ventricular tachycardia, Arrhy... ORPHA:26793
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Tachypnea, Spontaneous pneumothorax, Recurrent pneumonia, Interstitial pneumonitis, Co... OMIM:610913
Immunodeficiency 57 With Autoinflammation
Decreased circulating antibody level, Inflammation of the large intestine, Bronchiectasis, Recurr... OMIM:618108
Idiopathic Pulmonary Fibrosis
Reticular pattern on pulmonary HRCT, Honeycomb lung, Crackles, Cough, Bronchiectasis, Exertional ... ORPHA:2032
Alkaptonuria
Osteoarthritis, Prostatitis, Arthritis ORPHA:56
Polyembryoma
Irregular menstruation, Increased serum testosterone level, Increased serum serotonin, Abnormal c... ORPHA:180229
Igg4-Related Ophthalmic Disease
Sinusitis, Abnormality of the anterior pituitary, Cholangitis, Orchitis, Prostatitis, Thyroiditis... ORPHA:449563
Isolated Agammaglobulinemia
Sinusitis, Pneumonia, Inflammatory abnormality of the eye, Recurrent respiratory infections, Otit... ORPHA:229717
Cleft Velum
Aspiration pneumonia, Recurrent otitis media ORPHA:99772
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Adrenogenital syndrome, Hypoplasia of the va... OMIM:202010
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Recurrent cutaneous fungal infections, Decreased circulating IgG level, Increased circulating IgG... ORPHA:276
Cryptococcosis
Peritonitis, Osteomyelitis, Prostatitis, Pneumonia ORPHA:1546
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... ORPHA:453533
Immunodeficiency 77
Chronic pulmonary obstruction, Recurrent tonsillitis, Bronchiectasis, Cutaneous abscess OMIM:619223
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Chronic bronchitis, Cough, Rhinorrhea, Ciliary dyskinesia, Bronchiectasis, R... OMIM:613807
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Arrhythmia, Elevated transferrin saturation, Cardio... OMIM:606069
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, EEG abnormality, Sensorineural hearing impairment OMIM:617519
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Red... ORPHA:79127
Immunodeficiency 52
Recurrent infections, Recurrent pneumonia, Decreased circulating antibody level, Bronchiectasis, ... OMIM:617514
Microlissencephaly
Pneumonia ORPHA:1083
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of somatosensory evoked potentials, Sensorineural hearing impairment, Abnormal audito... ORPHA:320401
Non-Functioning Pituitary Adenoma
Irregular menstruation, Diabetes insipidus, Panhypopituitarism, Erectile dysfunction, Central adr... ORPHA:91349
Leptospirosis
Subconjunctival hemorrhage, Arrhythmia, Retinal hemorrhage, First degree atrioventricular block, ... ORPHA:509
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased serum testosterone level, I... OMIM:610489
Ciliary Dyskinesia, Primary, 22
Immotile cilia, Recurrent otitis media, Respiratory insufficiency due to defective ciliary cleara... OMIM:615444
Igg4-Related Submandibular Gland Disease
Abnormality of the thyroid gland, Xerostomia, Prostatitis, Cholangitis ORPHA:449432
Diabetes And Deafness, Maternally Inherited
Sensorineural hearing impairment, Hyperglycemia, Cardiomyopathy, Type II diabetes mellitus OMIM:520000
Immunodeficiency 62
Bronchiectasis OMIM:618459
Hypertriglyceridemia 1
Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Hyperlipoproteinemia, Type Iv
Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:144600
Rigid Spine Syndrome
Respiratory insufficiency, Pneumonia, Abnormality on pulmonary function testing ORPHA:97244
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased circulating IgG level, Recurrent otitis media, Uveitis, Conjunctivitis, Recurrent pneum... OMIM:614700
Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratoderma Syndrome
Aspiration pneumonia OMIM:609528
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Increased circulating IgG level, Pleural thickening, Asthma, Increased circulati... OMIM:619632
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Congenital laryngeal stridor, Neonatal asphyxia, Bronchiectasis ORPHA:2375
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Pneumonia, Decreased circulating cortisol level, Abnormality of female external genitalia, Male p... ORPHA:90790
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Otitis media, Panhypogammaglobulinemia, Pneumonia, Recurrent upper respiratory tract infections OMIM:602450
Ciliary Dyskinesia, Primary, 16
Chronic rhinitis, Ciliary dyskinesia, Bronchiectasis, Chronic otitis media, Abnormal ciliary moti... OMIM:614017
Type 1 Diabetes Mellitus
Hyperglycemia, Decreased level of 1,5 anhydroglucitol in serum, Diabetes mellitus OMIM:222100
Autosomal Agammaglobulinemia
Sinusitis, Recurrent infections, Recurrent skin infections, Agammaglobulinemia, Arthritis, Cough,... ORPHA:33110
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent otitis media, Recurrent viral infections, Recurrent bronchitis, Bronchiectasis, Recurre... OMIM:300853
Staphylococcal Necrotizing Pneumonia
Nonproductive cough, Pulmonary pneumatocele, Pneumonia, Hypoxemia, Tachypnea, Respiratory failure... ORPHA:36238
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent upper respiratory tra... OMIM:616100
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Primary amenorrhea, Cryptorchidism, Azoosperm... ORPHA:432
Citrullinemia Type Ii
Hypoproteinemia, Hyperlipidemia, Memory impairment, Hypercholesterolemia, Elevated plasma citrull... ORPHA:247585
Dengue Fever
Hypoproteinemia, Gastrointestinal hemorrhage, Hypotension, Cerebral hemorrhage, Epistaxis ORPHA:99828
Agammaglobulinemia 1, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Agammaglobulinemia, Recurrent bacterial infections, ... OMIM:601495
Congenital Disorder Of Glycosylation, Type Iic
Periodontitis, Recurrent otitis media, Bronchiolitis, Pneumonia OMIM:266265
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Respiratory failure, Cough, Dyspnea, Aspirati... ORPHA:90117
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Progressive sensorineural hearing impairment, Optic atrophy OMIM:125250
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Primary adrenal insufficiency, Testicular adrenal rest tumor, Abnormal external genitalia, Increa... ORPHA:90794
Pancreatic insufficiency, combined exocrine
Hypoproteinemia, Congestive heart failure OMIM:260450
Adenohypophysitis
Gonadotropin deficiency, Abnormal size of pituitary gland, Decreased female libido, Amenorrhea, P... ORPHA:95512
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Pneumonia ORPHA:85179
Autosomal Recessive Spastic Paraplegia Type 26
Premature ovarian insufficiency, Decreased serum testosterone concentration ORPHA:101006
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Low pulse pressure, Hypoalbuminemia, Incre... ORPHA:86816
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Aspergillosis
Sinusitis, Hypersensitivity pneumonitis, Pneumonia, Abnormality on pulmonary function testing, As... ORPHA:1163
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Hyperinsulinemia, Hyperuricemia, Insulin-resistant diabetes mellitus, Hyperte... OMIM:604367
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Lymphadenitis, Recurrent viral infections, Recurrent mycobacterial infections, Colitis... ORPHA:911
Immunodeficiency 60 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgG level, Crohn's disease, Decreased circ... OMIM:618394
47,Xyy Syndrome
Varicocele, Cryptorchidism, Increased serum testosterone level, Azoospermia, Micropenis, Oligospe... ORPHA:8
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Recurrent ... OMIM:619752
Severe Acute Respiratory Syndrome
Respiratory failure requiring assisted ventilation, Hypoxemia, Cough, Dyspnea, Chronic lung disea... ORPHA:140896
Frasier Syndrome
Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Decreased serum estradiol, G... ORPHA:347
Panbronchiolitis, Diffuse
Hypoxemia, Crackles, Cough, Bronchiectasis, Rhonchi, Wheezing OMIM:604809
Panhypophysitis
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Abnormalit... ORPHA:95513
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Increased total bili... OMIM:267700
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Recurrent otitis media, Bronchiectasis, Eczema, Recurrent respiratory infections, Keratitis, Incr... OMIM:618523
49,Xyyyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Azoospermia, Decreased serum testo... ORPHA:99330
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Ciliary Dyskinesia, Primary, 2
Immotile cilia, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Recurrent respiratory infections, ... OMIM:606763
Hereditary Pulmonary Alveolar Proteinosis
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Hypoxemia, Cr... ORPHA:264675
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Hearing impairment, Decreased nerve conduction velocity OMIM:601455
Immunodeficiency 92
Recurrent oral herpes, Decreased circulating IgG level, Sclerosing cholangitis, Pneumonia, Cholan... OMIM:619652
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Hyperglycemia OMIM:618970
Ménétrier Disease
Hypoproteinemia, Gastrointestinal hemorrhage, Hypoalbuminemia ORPHA:2494
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:289548
Selective Igm Deficiency
Hashimoto thyroiditis, Rheumatoid arthritis, Recurrent urinary tract infections, Otitis media, Ke... ORPHA:331235
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:168558
Ciliary Dyskinesia, Primary, 38
Cough, Bronchiectasis, Rhinitis, Chronic otitis media, Neonatal respiratory distress, Chronic sin... OMIM:618063
Immunodeficiency 58
Recurrent aphthous stomatitis, Esophagitis, Chronic mucocutaneous candidiasis, Recurrent pneumoni... OMIM:618131
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Hypoproteinemia, Hypoalbuminemia, Budd-Chiari syndrome OMIM:226300
Johanson-Blizzard Syndrome
Sensorineural hearing impairment, Hypoproteinemia, Diabetes mellitus ORPHA:2315
X-Linked Centronuclear Myopathy
Recurrent respiratory infections, Respiratory failure requiring assisted ventilation, Pneumonia, ... ORPHA:596
Charcot-Marie-Tooth Disease, Type 4C
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Prolonged brainstem... OMIM:601596
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Hyperglycemia, Interictal epileptiform activity, Type I diabetes mellitus OMIM:618857
Ane Syndrome
Hypogonadotropic hypogonadism, Abnormal response to ACTH stimulation test, Delayed puberty, Anter... ORPHA:157954
Mohr-Tranebjaerg Syndrome
Abnormality of somatosensory evoked potentials, Prelingual sensorineural hearing impairment, Sens... ORPHA:52368
Ciliary Dyskinesia, Primary, 1
Immotile cilia, Pneumonia, Chronic rhinitis, Ciliary dyskinesia, Recurrent bronchitis, Bronchiect... OMIM:244400
Autosomal Dominant Severe Congenital Neutropenia
Recurrent skin infections, Recurrent ear infections, Recurrent viral infections, Pneumonia, Perio... ORPHA:486
Leukoencephalopathy With Vanishing White Matter
Primary gonadal insufficiency, Primary amenorrhea, Secondary amenorrhea, Premature ovarian insuff... OMIM:603896
Sarcoidosis, Susceptibility To, 2
Emphysema, Restrictive ventilatory defect, Uveitis, Hypoxemia, Erythema nodosum, Elevated broncho... OMIM:612387
Tularemia
Pneumonia, Erythema nodosum, Inflammatory abnormality of the eye, Cutaneous abscess, Cough, Pleur... ORPHA:3392
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Partial absence of ... OMIM:618986
Refractory Celiac Disease
Hypoproteinemia, Hypocalcemia, Hypophosphatemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Allergic Bronchopulmonary Aspergillosis
Emphysema, Asthma, Cough, Bronchiectasis, Pulmonary arterial hypertension, Respiratory insufficiency ORPHA:1164
Thymic Aplasia
Recurrent Staphylococcus aureus infections, Recurrent infections, Sinusitis, Pneumonia, Chronic o... ORPHA:83471
Immunodeficiency 36
Recurrent respiratory infections, Recurrent bacterial infections, Decreased circulating antibody ... OMIM:616005
Whim Syndrome
Sinusitis, Recurrent pneumonia, Recurrent upper respiratory tract infections, Pneumonia, Lymphade... ORPHA:51636
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Hydrocele testis, Miscarriage, Eczema, Congenital adrenal hyp... ORPHA:96181
Lipodystrophy, Familial Partial, Type 1
Hyperglycemia, Hypertension, Hypertriglyceridemia, Insulin-resistant diabetes mellitus OMIM:608600
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent otitis media, Abnormal size of pituitary gland, Recurrent pneumonia, Decreased circulat... ORPHA:293978
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Recurrent viral infections, Recurrent mycobacterial infections, Recurrent bacterial in... ORPHA:169090
Müllerian Aplasia And Hyperandrogenism
Primary amenorrhea, Abnormality of the ovary, Increased serum testosterone level, Abnormal vagina... ORPHA:247768
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Aspiration pneumonia, Respiratory failure OMIM:619057
Acquired Aneurysmal Subarachnoid Hemorrhage
Cognitive impairment, Memory impairment, Hypercholesterolemia, Congestive heart failure, Cerebral... ORPHA:90065
Nephronophthisis-Like Nephropathy 2
Recurrent respiratory infections, Cough, Bronchiectasis OMIM:619468
Perrault Syndrome 4
Primary amenorrhea, Decreased serum estradiol, Bicornuate uterus, Secondary amenorrhea, Premature... OMIM:615300
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Diabetic ketoacidosis, Fasting hypoglycemia, Hypoglycemia, Hyperinsulinemia, Insulin-resistant di... OMIM:262190
Alg6-Cdg
Puberty and gonadal disorders, Increased circulating androgen concentration ORPHA:79320
Immunodeficiency 27A
Increased circulating IgG level, Pneumonia, Increased circulating IgM level, Increased inflammato... OMIM:209950
Chronic Beryllium Disease
Abnormal respiratory system physiology, Hypersensitivity pneumonitis, Reticulonodular pattern on ... ORPHA:133
46,Xx Gonadal Dysgenesis
Primary amenorrhea, Aplasia/hypoplasia of the uterus, Decreased serum estradiol, Secondary amenor... ORPHA:243
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent infections, Recurrent pneumonia, Recurrent aphthous stomatitis, Bronchiectasis, Chronic... OMIM:150550
Mody
Glycosuria, Neonatal hypoglycemia, Insulin-resistant diabetes mellitus, Elevated hemoglobin A1c, ... ORPHA:552
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Primary gonadal insufficiency, Infertility, Primary amenorrhea, Delayed pu... ORPHA:2232
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Tachypnea, Nodular pattern on pulmonary HRCT, Crazy paving pattern, Honeycomb lung, Co... OMIM:610921
Omenn Syndrome
Pneumonia, Recurrent viral infections, Recurrent bacterial infections, Recurrent fungal infection... OMIM:603554
Timothy Syndrome
Recurrent infections, Pneumonia, Bronchitis OMIM:601005
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Hypertriglyceridemia... OMIM:603553
T-Cell Immunodeficiency With Thymic Aplasia
Emphysema, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Recurrent bronchopulmonary... OMIM:242700
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Decreased circulating dehydroepiandrosterone concentration, Abnormality of... ORPHA:361
Mccune-Albright Syndrome
Abnormal endocrine physiology, Decreased fertility, Irregular menstruation, Abnormal testis morph... ORPHA:562
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Simpson-Golabi-Behmel Syndrome, Type 2
Recurrent upper respiratory tract infections, Pneumonia OMIM:300209
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal exte... ORPHA:95699
Yellow Nail Syndrome
Sinusitis, Cough, Bronchiectasis, Dyspnea, Recurrent respiratory infections, Neoplasm of the lung... ORPHA:662
Riddle Syndrome
Decreased circulating IgG level, Recurrent pneumonia, Decreased circulating total IgM, Pneumonia,... ORPHA:420741
Immunodeficiency 64
Decreased circulating IgG level, Recurrent infections, Increased circulating IgG level, Increased... OMIM:618534
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Decreased circulating total IgM, Recurrent pneumonia, Sinusitis, Pneumonia, Recurrent viral infec... OMIM:102700
Purine Nucleoside Phosphorylase Deficiency
Sinusitis, Recurrent upper respiratory tract infections, Pneumonia, Recurrent viral infections, R... OMIM:613179
Fusariosis
Sinusitis, Hypersensitivity pneumonitis, Myositis, Pneumonia, Lung abscess, Peritonitis, Maculopa... ORPHA:228119
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hypothyroidism, Hyperinsulinemia, Delayed puberty, Micropenis, Abnormal... ORPHA:3464
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Recurrent otitis media, Ovotestis, Chordee, Cryptorchidism, Male infertility, Bil... ORPHA:1772
Chronic Bilirubin Encephalopathy
Hypernatremia, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypoalbumin... ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Hypoalbumin... ORPHA:529799
Common Variable Immunodeficiency
Emphysema, Restrictive ventilatory defect, Pneumonia, Decreased circulating antibody level, Recur... ORPHA:1572
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Eleva... ORPHA:3044
Neonatal Alloimmune Neutropenia
Pneumonia, Sepsis ORPHA:464370
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Cognitive impairment, Hypoproteinemia, Hyponatremia... ORPHA:167
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypomagnesemia, Hypoalbuminemia, Hypoproteinemia ORPHA:90362
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent abscess formation, Abnormal circulating interleukin concentration, Abnormal serum inter... ORPHA:79124
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Pneumonia, Chronic bronchitis, Increased circulating IgM level, Decreased circulating ... OMIM:242860
Avian Influenza
Nonproductive cough, Pneumonia, Hypoxemia, Infectious encephalitis, Tachypnea, Respiratory failur... ORPHA:454836
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Sepsis ORPHA:231154
Primary Ciliary Dyskinesia
Recurrent otitis media, Airway obstruction, Chronic rhinitis, Recurrent mycobacterial infections,... ORPHA:244
Spastic Paraplegia 26, Autosomal Recessive
Decreased serum testosterone concentration OMIM:609195
Sporadic Creutzfeldt-Jakob Disease
Recurrent infections, Respiratory failure requiring assisted ventilation, Recurrent aspiration pn... ORPHA:204
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Tachypnea, Pulmonary arterial ... ORPHA:217563
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia, Low-set ears OMIM:235255
Slc35A1-Cdg
Pulmonary hemorrhage, Pneumonia, Hypoxemia, Respiratory distress ORPHA:238459
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Hypogonadotropic hypogonadism, Infertility, Amenorrhea, Erectile dysfunction, Dec... ORPHA:465508
Meconium Aspiration Syndrome
Hypoxemia, Atelectasis, Pulmonary arterial hypertension, Neonatal asphyxia, Pneumothorax, Respira... ORPHA:70588
Acute Interstitial Pneumonia
Nonproductive cough, Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Tachypnea, R... ORPHA:79126
Bacterial Toxic-Shock Syndrome
Sinusitis, Myositis, Recurrent skin infections, Pneumonia, Infectious encephalitis, Peritonitis, ... ORPHA:36234
Woodhouse-Sakati Syndrome
Hypogonadotropic hypogonadism, Micropenis, Decreased serum testosterone concentration, Elevated c... OMIM:241080
Good Syndrome
Sinusitis, Recurrent skin infections, Decreased circulating antibody level, Cough, Dyspnea, Bronc... ORPHA:169105
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Membranous nephropathy, Hepatitis, Inflammatory abnormality of the skin, Crusting erythematous de... ORPHA:37042
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Conductive hearing impairment, Sensorineural hearing impairment OMIM:201050
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Increased serum testosterone level, Ovarian cyst, Enlarged polycystic o... ORPHA:64739
Adult Krabbe Disease
EEG abnormality, Prolonged brainstem auditory evoked potentials, Mental deterioration, Progressiv... ORPHA:206448
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG with persistent abnormal rhythmic activity, M... ORPHA:206443
Pulmonary Non-Tuberculous Mycobacterial Infection
Crackles, Cough, Pleural effusion, Bronchiectasis, Dyspnea, Chronic pulmonary obstruction, Pneumo... ORPHA:411703
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Shawl scrotum, Decreased serum te... OMIM:305400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Recurrent otitis media, Recurrent upper respiratory tract infections, Pneumonia, Panhypogammaglob... OMIM:600802
Congenital Tracheomalacia
Tracheomalacia, Productive cough, Wheezing, Emphysema, Recurrent upper respiratory tract infectio... ORPHA:95430
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Decreased circulating ant... OMIM:615952
Insulin-Resistance Syndrome Type B
Diabetic ketoacidosis, Pneumonia, Hyperinsulinemia, Skin rash, Polycystic ovaries, Increased seru... ORPHA:2298
Graft Versus Host Disease
Recurrent infections, Myositis, Pneumonia, Gastrointestinal inflammation, Inflammatory abnormalit... ORPHA:39812
Progeria-Short Stature-Pigmented Nevi Syndrome
Micropenis, Decreased serum testosterone concentration, Decreased serum estradiol, Hypergonadotro... ORPHA:2959
Wiskott-Aldrich Syndrome, Autosomal Dominant
Decreased circulating total IgM, Sinusitis, Recurrent upper respiratory tract infections, Pneumon... OMIM:600903
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased serum estradiol, Hypergonadotropic h... OMIM:604168
Nocardiosis
Scleritis, Productive cough, Keratitis, Conjunctivitis, Emphysema, Infectious encephalitis, Osteo... ORPHA:31204
Ciliary Dyskinesia, Primary, 37
Wheezing, Rhinorrhea, Chronic rhinitis, Bronchiectasis OMIM:617577
Bronchogenic Cyst
Bronchogenic cyst, Pneumonia, Abnormal pleura morphology, Pulmonary cyst, Cough, Dyspnea, Atelect... ORPHA:2357
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:109120
Car T Cell Therapy-Associated Cytokine Release Syndrome
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Hypoxemia... ORPHA:542323
Lymphoid Interstitial Pneumonia
Restrictive ventilatory defect, Hypoxemia, Crackles, Subpleural interstitial thickening, Respirat... ORPHA:79128
Infantile Krabbe Disease
Psychomotor deterioration, Mental deterioration, Decreased nerve conduction velocity, Prolonged b... ORPHA:206436
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Vestibular areflexia, Absent brainstem auditory responses, Increased circulating ferritin concent... ORPHA:3240
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia, Low-set ears ORPHA:1655
Rabson-Mendenhall Syndrome
Diabetic ketoacidosis, Hypothyroidism, Increased pineal volume, Increased serum testosterone leve... ORPHA:769
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... ORPHA:2590
Bloom Syndrome
Decreased circulating IgG level, Decreased circulating total IgM, Recurrent infections, Uveitis, ... ORPHA:125
Pgm3-Cdg
Esophagitis, Recurrent pneumonia, Recurrent skin infections, Increased circulating IgA level, Ecz... ORPHA:443811
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Restrictive ventilatory defect, Pneumonia OMIM:253700
Adult-Onset Autosomal Dominant Leukodystrophy
Abnormality of somatosensory evoked potentials, EEG with generalized slow activity, Cognitive imp... ORPHA:99027
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Decreased serum testosterone concentration, Hypogonadism, Decreased testicular size OMIM:201100
Omenn Syndrome
Thyroiditis, Pneumonia, Sepsis, Erythroderma ORPHA:39041
Mucoepithelial Dysplasia, Hereditary
Recurrent pneumonia, Fibrocystic lung disease, Pneumonia, Rhinorrhea, Keratoconjunctivitis, Chron... OMIM:158310
Alpha-Mannosidosis, Adult Form
Recurrent infections, Recurrent gastroenteritis, Pneumonia ORPHA:309288
Leukocyte Adhesion Deficiency
Recurrent tonsillitis, Recurrent aphthous stomatitis, Vaginitis, Recurrent urinary tract infectio... ORPHA:2968
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Optic disc pallor OMIM:619260
Sweet Syndrome
Increased circulating interleukin 6 concentration, Recurrent infections, Abnormal circulating int... ORPHA:3243
Oculopharyngodistal Myopathy
Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Recurrent aspir... ORPHA:98897
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3
Pneumonia OMIM:608033
Ectodermal Dysplasia And Immunodeficiency 2
Defective production of NFKB1-dependent cytokines, Recurrent respiratory infections, Recurrent in... OMIM:612132
Charcot-Marie-Tooth Disease Type 1F
Cognitive impairment, Sensorineural hearing impairment, Optic nerve hypoplasia, Decreased nerve c... ORPHA:101085
Meningioma
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... ORPHA:2495
Congenital Multicore Myopathy With External Ophthalmoplegia
Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn... ORPHA:98905
Immunodeficiency 23
Recurrent Staphylococcus aureus infections, Increased circulating IgG level, Increased circulatin... OMIM:615816
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia OMIM:300484
Drug Reaction With Eosinophilia And Systemic Symptoms
Infectious encephalitis, Interstitial pneumonitis, Myocarditis, Cough, Tubulointerstitial nephrit... ORPHA:139402
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Colitis, Recurrent pneumonia, Reduced circulating interferon gamma, Bronchiectasis OMIM:301220
Q Fever
Pneumonia, Infectious encephalitis, Maculopapular exanthema, Cholecystitis, Myocarditis, Cough, P... ORPHA:781
Postinfectious Vasculitis
Recurrent Staphylococcus aureus infections, Viral hepatitis, Pneumonia, Gastrointestinal inflamma... ORPHA:48435
Bronchial Neuroendocrine Tumor
Nonproductive cough, Pneumonia, Asthma, Abnormal pulmonary interstitial morphology, Dyspnea, Bron... ORPHA:97287
Pseudoleprechaunism Syndrome, Patterson Type
Increased circulating androgen concentration, Diabetes mellitus, Premature adrenarche ORPHA:2976
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Abnormal circulating interleukin concentration... ORPHA:158061
Sheehan Syndrome
Central diabetes insipidus, Gonadotropin deficiency, Abnormal size of pituitary gland, Decreased ... ORPHA:91355
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Recurrent pneumonia, Respiratory distress, Hypoventilation, Aspiration pneumonia ORPHA:314655
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Aspiration pneumonia, Episodic tachypnea ORPHA:79264
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased circulating total IgM, Recurrent ear infections, Recurrent viral infections, Decreased ... ORPHA:221139
Dend Syndrome
Elevated hemoglobin A1c, Thickened ears, Hyperglycemia, Hypsarrhythmia ORPHA:79134
Cockayne Syndrome Type 1
Hearing impairment, Increased blood urea nitrogen, Hypertension, Macrotia, Absent brainstem audit... ORPHA:90321
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Abnormality of serum cytokine level, Abnormali... ORPHA:540
Necrotizing Enterocolitis
Hyponatremia, Hypotension, Bradycardia, Hyperglycemia, Shock, Abnormal glucose homeostasis ORPHA:391673
Roifman-Chitayat Syndrome
Pneumonia, Arthritis OMIM:613328
Pyruvate Dehydrogenase E1-Alpha Deficiency
Neonatal respiratory distress, Recurrent infections, Recurrent aspiration pneumonia ORPHA:79243
Gaucher Disease, Type Ii
Apnea, Recurrent aspiration pneumonia OMIM:230900
Brucellosis
Sacroiliac arthritis, Arteritis, Epididymitis, Bronchitis, Hip osteoarthritis, Lung abscess, Infe... ORPHA:1304
Cushing Syndrome Due To Ectopic Acth Secretion
Pulmonary carcinoid tumor, Pancreatic endocrine tumor, Increased circulating androgen concentrati... ORPHA:99889
Listeriosis
Pyelonephritis, Pneumonia, Infectious encephalitis, Cholecystitis, Peritonitis, Myocarditis, Resp... ORPHA:533
Spondyloenchondrodysplasia
Recurrent infections, Pneumonia, Hepatitis, Skin rash, Arthritis, Juvenile rheumatoid arthritis ORPHA:1855
Pancreatic And Cerebellar Agenesis
Hypoglycemia, Low-set ears, Optic nerve hypoplasia, Diabetes mellitus, Hyperglycemia OMIM:609069
Pierson Syndrome
Hypoproteinemia, Hypertension, Retinal hemorrhage OMIM:609049
Infection-Related Hemolytic Uremic Syndrome
Increased circulating interleukin 6 concentration, Pneumonia, Myocarditis, Respiratory tract infe... ORPHA:544482
Immunodeficiency 82 With Systemic Inflammation
Decreased circulating total IgM, Recurrent abscess formation, Recurrent otitis media, Recurrent i... OMIM:619381
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent otitis media, Restrictive ventilatory defect, Pneumonia, Rheumatoid arthritis, Recurren... OMIM:607944
Shigellosis
Uveitis, Pneumonia, Arthritis, Peritonitis, Myocarditis, Acute colitis, Sepsis, Ulcerative coliti... ORPHA:810
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Recurrent bacterial infections, Increased pulmonary vascular resistance, Dyspnea, Pulm... ORPHA:99104
Cerebrotendinous Xanthomatosis
Abnormality of somatosensory evoked potentials, Cognitive impairment, Optic neuropathy, Decreased... ORPHA:909
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Portal hypertension, Sensorineural hearing impairment, Aganglionic megacolon, Abnormal autonomic ... OMIM:609136
Hereditary Bullous Dystrophy, Macular Type
Pneumonia ORPHA:1867
Malakoplakia
Urinary bladder inflammation, Orchitis, Prostate neoplasm, Inflammatory abnormality of the skin, ... ORPHA:556
Pulmonary Alveolar Microlithiasis
Nonproductive cough, Restrictive ventilatory defect, Hypoxemia, Pleural thickening, Oxygen desatu... ORPHA:60025
Lymphatic Filariasis
Lymphadenitis, Orchitis, Knee osteoarthritis, Glomerulonephritis, Vaginal hydrocele, Urethral obs... ORPHA:2035
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Hypertension OMIM:615954
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency
Aspiration pneumonia, Central sleep apnea, Pancreatitis ORPHA:431361
Juvenile Polyposis Syndrome
Hematochezia, Hypoproteinemia, Mucosal telangiectasiae, Gastrointestinal hemorrhage, Low-set ears... ORPHA:2929
Coccidioidomycosis
Increased circulating IgG level, Pneumonia, Erythema nodosum, Increased circulating IgM level, Ar... ORPHA:228123
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Pneumonia, Sepsis, Skin rash ORPHA:247691
Proximal Spinal Muscular Atrophy
Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency due to muscle weak... ORPHA:70
Atrial Septal Defect, Ostium Secundum Type
Pneumonia, Airway obstruction, Recurrent bacterial infections, Increased pulmonary vascular resis... ORPHA:99103
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent infections, Recurrent upper respiratory tract infections, Abnormal serum interferon-gam... ORPHA:391487
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Decreased fertility, Decreased circulating progesterone, Polycystic ova... ORPHA:572333
Cockayne Syndrome A
Arrhythmia, Sensorineural hearing impairment, Dementia, Decreased nerve conduction velocity, Abno... OMIM:216400
Trisomy 10P
Low-set ears, EEG with burst suppression, Abnormal auditory evoked potentials, Posteriorly rotate... ORPHA:171929
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Hypercholesterolemia, Insulin-resistant diabetes mellitus, Hypertension, Hypert... OMIM:151660
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Cough ORPHA:216866
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Erysipelas, Myositis, Uveitis, Arthritis, Orchitis, Peritonitis, Pericarditis, Fasciitis, Conjunc... ORPHA:32960
Tenorio Syndrome
Apnea, Stomatitis, Pneumonia, Keratoconjunctivitis sicca OMIM:616260
Zygomycosis
Hepatitis, Pancreatitis, Fasciitis, Acute infectious pneumonia, Infectious encephalitis, Myocardi... ORPHA:73263
Mirage Syndrome
Aspiration pneumonia, Recurrent bacterial infections, Recurrent urinary tract infections, Sepsis OMIM:617053
Geleophysic Dysplasia 3
Sleep apnea, Respiratory failure, Pneumonia, Dyspnea OMIM:617809
Mend Syndrome
Elevated 8-dehydrocholesterol, Low-set ears, Abnormal auditory evoked potentials, Aortic valve st... ORPHA:401973
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Cryptorchidism, Hypoplastic labia minora, Decreased serum testosterone concentration, Absent scro... ORPHA:495875
Robinow Syndrome
Hypoplastic labia majora, Small scrotum, Cryptorchidism, Micropenis, Clitoral hypoplasia, Decreas... ORPHA:97360
Gm1 Gangliosidosis
Recurrent respiratory infections, Aspiration pneumonia, Infectious encephalitis ORPHA:354
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Cough, Dyspnea, Tracheobronchial leiomyomatosis, Recurrent respiratory infections, Keratitis, Asp... ORPHA:1018
Cystic Fibrosis
Recurrent pneumonia, Reduced forced expiratory volume in one second, Asthma, Reduced forced vital... OMIM:219700
Steinert Myotonic Dystrophy
Hyperinsulinemia, Abnormality of thyroid physiology, Decreased serum testosterone concentration, ... ORPHA:273
Cockayne Syndrome B
Arrhythmia, Sensorineural hearing impairment, Decreased nerve conduction velocity, Abnormal audit... OMIM:133540
Infantile Neuroaxonal Dystrophy
Aspiration pneumonia, Apneic episodes in infancy ORPHA:35069
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory failure, ... ORPHA:79138
Mogs-Cdg
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy ORPHA:79330
Scorpion Envenomation
Glycosuria, Hypokalemia, Premature ventricular contraction, Arrhythmia, Congestive heart failure,... ORPHA:466677
Mercury Poisoning
Respiratory failure, Interstitial pneumonitis, Respiratory distress, Dyspnea ORPHA:330021
Familial Mediterranean Fever
Erysipelas, Crohn's disease, Orchitis, Peritonitis, Pericarditis, Arthritis OMIM:249100
Psoriasis-Related Juvenile Idiopathic Arthritis
Uveitis, Iritis, Abnormality of tumor necrosis factor secretion, Sacroiliac arthritis, Iridocycli... ORPHA:85436
Shwachman-Diamond Syndrome
Sinusitis, Pneumonia, Recurrent viral infections, Recurrent bacterial infections, Eczema, Osteomy... ORPHA:811
Familial Mediterranean Fever
Erysipelas, Orchitis, Peritonitis, Osteoarthritis, Pancreatitis, Pericarditis, Arthritis, Skin rash ORPHA:342
Hemorrhagic Fever-Renal Syndrome
Increased circulating interleukin 6 concentration, Acute tubulointerstitial nephritis, Pneumonia,... ORPHA:340
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Chordee, Polycystic ovaries, Cryptorchidism, Micropenis, Elevated circulating 17-h... OMIM:201750
Chops Syndrome
Aspiration pneumonia, Chronic lung disease OMIM:616368
Sarcoidosis, Susceptibility To, 1
Emphysema, Restrictive ventilatory defect, Uveitis, Hypoxemia, Elevated bronchoalveolar lavage fl... OMIM:181000
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Recurrent pneumonia, Recurrent aspiration pneumonia OMIM:300472
Behçet Disease
Optic neuritis, Myositis, Arthritis, Orchitis, Infectious encephalitis, Increased inflammatory re... ORPHA:117
Immunoglobulin A Vasculitis
Orchitis, Infectious encephalitis, Episcleritis, Pustule, Arthritis, Skin rash ORPHA:761
Arnold-Chiari Malformation Type Ii
Apnea, Pneumonia, Inspiratory stridor ORPHA:1136
X-Linked Dystonia-Parkinsonism
Aspiration pneumonia ORPHA:53351
Severe Generalized Junctional Epidermolysis Bullosa
Recurrent skin infections, Pneumonia, Gastrointestinal inflammation, Respiratory failure, Dyspnea... ORPHA:79404
Hennekam-Beemer Syndrome
Respiratory insufficiency, Pneumonia ORPHA:2135
Alpha-Mannosidosis, Infantile Form
Recurrent infections, Pneumonia, Recurrent gastroenteritis, Recurrent urinary tract infections, O... ORPHA:309282
Mucopolysaccharidosis Type 3
Recurrent tonsillitis, Respiratory tract infection, Upper airway obstruction, Obstructive sleep a... ORPHA:581
Orofaciodigital Syndrome Ix
Recurrent aspiration pneumonia OMIM:258865
Lissencephaly Due To Lis1 Mutation
Aspiration pneumonia ORPHA:95232
Wiedemann-Rautenstrauch Syndrome
Cryptorchidism, Increased serum testosterone level, Long penis, Hypospadias OMIM:264090
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Aspiration pneumonia OMIM:619167
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Pneumonia, Infectious encephalitis, Respiratory tract infection, Pustule ORPHA:68
Congenital Fiber-Type Disproportion Myopathy
Hypoxemia, Hypercapnia, Respiratory failure, Recurrent respiratory infections, Respiratory insuff... ORPHA:2020
Wiedemann-Rautenstrauch Syndrome
Hypogonadotropic hypogonadism, Recurrent otitis media, Recurrent skin infections, Cryptorchidism,... ORPHA:3455
Marshall-Smith Syndrome
Recurrent upper respiratory tract infections, Airway obstruction, Pulmonary arterial hypertension... OMIM:602535
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory failure requiring assisted ventilation, Pneumonia, Gastrointestinal inflammation, Cou... ORPHA:95455
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Tachypnea, Recurrent respiratory infections, Chronic lung disease, Apnea, Recurrent aspiration pn... ORPHA:397715
Crimean-Congo Hemorrhagic Fever
Adrenal insufficiency, Acute pancreatitis, Erythema nodosum, Parotitis, Orchitis, Cholecystitis, ... ORPHA:99827
Plague
Lymphadenitis, Erythema nodosum, Inflammatory abnormality of the eye, Inflammation of the large i... ORPHA:707
Fanconi Anemia, Complementation Group F
Pneumonia OMIM:603467
Cholera
Aspiration pneumonia, Tachypnea, Hyperventilation ORPHA:173
Neuroleptic Malignant Syndrome
Aspiration pneumonia, Sepsis, Pulmonary embolism ORPHA:94093
Degcags Syndrome
Recurrent infections, Pneumonia, Tracheomalacia, Asthma, Pulmonary arterial hypertension, Rhiniti... OMIM:619488
Cornelia De Lange Syndrome 1
Pneumonia, Otitis media OMIM:122470
Coffin-Siris Syndrome
Aspiration pneumonia, Recurrent infections, Recurrent upper respiratory tract infections ORPHA:1465
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Restrictive ventilatory defect, Apnea, Aspiration pneumonia, Hypopnea OMIM:619482
Alström Syndrome
Hyoplasia of the Leydig cells, Irregular menstruation, Decreased fertility in males, Decreased ci... ORPHA:64
Marburg Hemorrhagic Fever
Uveitis, Orchitis, Maculopapular exanthema, Pancreatitis, Pericarditis, Arthritis, Skin rash ORPHA:99826
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Recurrent aspiration pneumonia ORPHA:73230
Dyskeratosis Congenita, Autosomal Dominant 1
Interstitial pneumonitis, Pulmonary fibrosis OMIM:127550
Gm1 Gangliosidosis Type 1