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JRRP
MCID: RSP027
MIFTS: 47

Respiratory Papillomatosis, Juvenile Recurrent, Congenital (JRRP)

Categories: Genetic diseases, Oral diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Respiratory Papillomatosis, Juvenile Recurrent, Congenital

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MalaCards integrated aliases for Respiratory Papillomatosis, Juvenile Recurrent, Congenital:

Name: Respiratory Papillomatosis, Juvenile Recurrent, Congenital 57 72 29 6
Jrrp 57 72
Respiratory Tract Infections 44

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood
one consanguineous belgian family has been reported (last curated march 2020)


HPO:

31
respiratory papillomatosis, juvenile recurrent, congenital:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Respiratory diseases Oral diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM® 57 618803
Sources

Summaries for Respiratory Papillomatosis, Juvenile Recurrent, Congenital

About this section
OMIM® : 57 Congenital juvenile respiratory papillomatosis (JRRP) is an autosomal recessive disorder characterized by the development of recurrent growth of papillomas (warts) on respiratory epithelial cells in the upper airway, particularly the larynx. Patients present in early childhood with hoarse voice and, in severe cases, respiratory stridor due to airway obstruction. Affected individuals may also have mild dermatologic abnormalities similar to those observed in AIADK. While JRRP is a genetic disorder resulting from abnormal activation of the immune system, RRP in general is usually associated with acquired HPV infection, commonly with HPV types 6 and 11 (summary by Drutman et al., 2019). (618803) (Updated 20-May-2021)

MalaCards based summary : Respiratory Papillomatosis, Juvenile Recurrent, Congenital, also known as jrrp, is related to tonsillitis and otitis media. An important gene associated with Respiratory Papillomatosis, Juvenile Recurrent, Congenital is NLRP1 (NLR Family Pyrin Domain Containing 1), and among its related pathways/superpathways are Innate Immune System and NF-kappaB Signaling. The drugs Penicillin G and Ceftriaxone have been mentioned in the context of this disorder. Affiliated tissues include lung, liver and heart, and related phenotypes are hoarse voice and keratosis pilaris

UniProtKB/Swiss-Prot : 72 Respiratory papillomatosis, juvenile recurrent, congenital: An autosomal recessive disease characterized by recurrent growth of papillomas in the respiratory tract, and onset in early childhood. Papillomas are most commonly found in the larynx but may occur anywhere from the mouth to the bronchi. Children typically present within the first years of life with hoarseness or, in more severe cases, respiratory distress or stridor and airway obstruction. JRRP is associated with infection of the upper airway by human papillomaviruses of the alpha genus. The infection is thought to occur by vertical transmission at birth.

Sources

Related Diseases for Respiratory Papillomatosis, Juvenile Recurrent, Congenital

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Diseases in the Recurrent Respiratory Papillomatosis family:

Respiratory Papillomatosis, Juvenile Recurrent, Congenital

Diseases related to Respiratory Papillomatosis, Juvenile Recurrent, Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 412)
# Related Disease Score Top Affiliating Genes
1 tonsillitis 31.4 LACTB CD79A
2 otitis media 31.2 MBL2 LACTB CD79A
3 chlamydia 31.1 MBL2 CD79A
4 bacterial pneumonia 31.0 NEU1 LACTB
5 meningitis 30.3 MBL2 LACTB
6 bacterial meningitis 30.1 MBL2 LACTB
7 agammaglobulinemia 30.0 CD79A CD40LG
8 pneumonia 30.0 NEU1 MBL2 LACTB CD40LG
9 tetanus 29.9 CD79A CD40LG
10 immunoglobulin alpha deficiency 29.9 MBL2 CD79A CD40LG
11 neisseria meningitidis infection 29.9 MBL2 LACTB
12 mesangial proliferative glomerulonephritis 29.8 MBL2 CD79A
13 immune deficiency disease 29.7 MBL2 CD79A CD40LG
14 immunoglobulin a deficiency 1 29.6 CD79A CD40LG
15 bacteriuria 29.6 CD79A CD40LG
16 iga glomerulonephritis 29.6 MBL2 CD79A CD40LG
17 acquired immunodeficiency syndrome 29.6 CD79A CD40LG
18 glomerulonephritis 29.5 MBL2 CD79A CD40LG
19 dengue disease 29.5 MBL2 CD40LG
20 common variable immunodeficiency 29.5 MBL2 CD79A CD40LG
21 human immunodeficiency virus infectious disease 29.2 MBL2 CD79A
22 vasculitis 29.1 MBL2 CD79A CD40LG
23 primary ciliary dyskinesia 11.3
24 bronchitis 11.2
25 pseudohypoaldosteronism, type i, autosomal recessive 11.2
26 haemophilus influenzae 11.2
27 prolidase deficiency 11.2
28 nijmegen breakage syndrome 11.2
29 immunodeficiency 36 11.2
30 immunodeficiency 15a 11.2
31 mounier-kuhn syndrome 11.1
32 alpha-1-antitrypsin deficiency 11.1
33 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia 11.0
34 immunodeficiency 43 11.0
35 lipoid proteinosis of urbach and wiethe 11.0
36 pulmonary hypoplasia, primary 11.0
37 reticular dysgenesis 11.0
38 myoglobinuria, acute recurrent, autosomal recessive 11.0
39 lubs x-linked mental retardation syndrome 11.0
40 congenital disorder of glycosylation, type ig 11.0
41 interstitial nephritis, karyomegalic 11.0
42 immunodeficiency 14a, autosomal dominant 11.0
43 immunodeficiency 26 with or without neurologic abnormalities 11.0
44 analbuminemia 11.0
45 immunodeficiency 62 11.0
46 immunodeficiency 72 with autoinflammation 11.0
47 nk cell deficiency 11.0
48 rhizomelic chondrodysplasia punctata 11.0
49 typical congenital nemaline myopathy 11.0
50 dock8 immunodeficiency syndrome 11.0

Graphical network of the top 20 diseases related to Respiratory Papillomatosis, Juvenile Recurrent, Congenital:



Diseases related to Respiratory Papillomatosis, Juvenile Recurrent, Congenital
Sources

Symptoms & Phenotypes for Respiratory Papillomatosis, Juvenile Recurrent, Congenital

About this section

Human phenotypes related to Respiratory Papillomatosis, Juvenile Recurrent, Congenital:

31
# Description HPO Frequency HPO Source Accession
1 hoarse voice 31 very rare (1%) HP:0001609
2 keratosis pilaris 31 very rare (1%) HP:0032152
3 atrophodermia vermiculata 31 very rare (1%) HP:0100837
4 laryngeal papilloma 31 very rare (1%) HP:0033001

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Respiratory Larynx:
hoarse voice
papillomatosis

Skin Nails Hair Skin:
keratosis pilaris
palmar and plantar warts
atrophoderma vermiculata

Voice:
hoarse voice

Laboratory Abnormalities:
increased serum il18
abnormal activation of the inflammasome
increased serum il1ra
increased serum tnf-alpha
no evidence of infection with hpv6 or hpv11

Clinical features from OMIM®:

618803 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Respiratory Papillomatosis, Juvenile Recurrent, Congenital:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.43 CD40LG CD79A LACTB MBL2 NEU1 NLRP1
2 renal/urinary system MP:0005367 8.92 CD40LG CD79A MBL2 NEU1
Sources

Drugs & Therapeutics for Respiratory Papillomatosis, Juvenile Recurrent, Congenital

About this section

Drugs for Respiratory Papillomatosis, Juvenile Recurrent, Congenital (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 421)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Penicillin G Approved, Vet_approved Phase 4 61-33-6 5904
2
Ceftriaxone Approved Phase 4 73384-59-5 5479530 5361919
3
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
4
Ephedrine Approved Phase 4 299-42-3 9294
5
Chlorpheniramine Approved Phase 4 113-92-8, 132-22-9 2725
6
Pseudoephedrine Approved Phase 4 90-82-4 7028
7
Montelukast Approved Phase 4 158966-92-8 5281040
8
Acetaminophen Approved Phase 4 103-90-2 1983
9
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
10
Ibuprofen Approved Phase 4 15687-27-1 3672
11
Zinc Approved, Investigational Phase 4 7440-66-6 32051
12
Sulbactam Approved Phase 4 68373-14-8
13
Ethanol Approved Phase 4 64-17-5 702
14
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 9552079 2713
15
Meropenem Approved, Investigational Phase 4 96036-03-2, 119478-56-7 64778 441130
16
Cidofovir Approved Phase 4 113852-37-2 60613
17
Zinc sulfate Approved, Investigational Phase 4 7733-02-0
18
Ciprofloxacin Approved, Investigational Phase 4 85721-33-1 2764
19
Tazobactam Approved Phase 4 89786-04-9 123630
20
Piperacillin Approved Phase 4 66258-76-2 43672
21
Tocopherol Approved, Investigational Phase 4 1406-66-2
22
Streptokinase Approved, Investigational Phase 4 9002-01-1
23
Menthol Approved Phase 4 2216-51-5 16666
24
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
25
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
26
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
27
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
28
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
29
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
30
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
31
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
32
Oseltamivir Approved Phase 4 196618-13-0, 204255-11-8 65028
33
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
34
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
35
Remifentanil Approved Phase 4 132875-61-7 60815
36
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
37
Neostigmine Approved, Vet_approved Phase 4 59-99-4 4456
38
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
39
Ketamine Approved, Vet_approved Phase 4 6740-88-1 3821
40
Succinylcholine Approved Phase 4 306-40-1 5314
41
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
42
Phenylpropanolamine Approved, Vet_approved, Withdrawn Phase 4 14838-15-4 26934
43
Dextromethorphan Approved Phase 4 125-71-3 5360696 5362449
44
Glutamic acid Approved, Nutraceutical Phase 4 56-86-0 33032
45
Alfacalcidol Approved, Nutraceutical Phase 4 41294-56-8 5282181
46
Ginseng Approved, Investigational, Nutraceutical Phase 4 50647-08-0
47
Glycine Approved, Nutraceutical, Vet_approved Phase 4 56-40-6 750
48
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
49
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
50
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 68-26-8, 11103-57-4 445354

Interventional clinical trials:

(show top 50) (show all 672)
# Name Status NCT ID Phase Drugs
1 Procalcitonin as a Marker of Antibiotic Therapy in Patients With Lower Respiratory Tract Infections. Can Measurement of Procalcitonin Reduce the Use of Antibiotics? Unknown status NCT02171338 Phase 4
2 Effectiveness of Lactobacillus GG in the Prevention of Gastrointestinal and Respiratory Tract Infections in Children With Gastroesophageal Reflux Disease Treated With Proton Pump Inhibitors: Randomized Double - Blind Placebo, Controlled Trial. Unknown status NCT01782118 Phase 4
3 Effect of Vaxoral® (OM-85) on Frequency of Respiratory Tract Infections and Size of Adenoid Tissue in Preschool Children With Adenoid Hypertrophy Unknown status NCT03243565 Phase 4
4 A Open Multi-center Clinical Study on Piperacillin Sodium and Sulbactam Sodium for Injection (2:1) for Treatment of Respiratory and Urinary Tract Infection Unknown status NCT01897831 Phase 4 xin te mie
5 Effect of Vitamin D Supplementation in Young Children With Acute Lower Respiratory Tract Infection at Dr George Mukhari Academic Hospital, Pretoria, South Africa Unknown status NCT02054182 Phase 4 Vitamin D
6 The Norwegian Antibiotics for Pneumonia in Children Study Unknown status NCT03446534 Phase 4 Amoxicillin;Placebos
7 Clinical Relevance of Middle Meatal Bacteriology During Acute Respiratory Infection in Children - Randomised, Double-Blinded Clinical Study Unknown status NCT00545961 Phase 4 placebo;amoxicillin clavulanate acid
8 A Post-marketing Research on Jinyebaidu Granule in Treating Patients With Acute Upper Respiratory Infection: A Double Blind, Double Dummy, Randomized, Controlled Trial Unknown status NCT02539277 Phase 4 Jinyebaidu granule;Fufangshuanghua granule;Jinyebaidu granule placebo;Fufangshuanghua granule placebo
9 Effect of Alfacalcidol Supplementation to Respiratory Infection, Inflammatory Markers and CD4/CD8 Ratio of Indonesian Elderly Unknown status NCT03292744 Phase 4 Alfacalcidol
10 Title: Effectiveness of Empiric Antiviral Treatment for Hospitalized Community Acquired Pneumonia During the Influenza Season (U18) Completed NCT01248715 Phase 4 oseltamivir
11 A Randomized Double Blind, Placebo-Controlled Clinical Trial of Chinese Herbal Medicine (CHM) in the Treatment of Acute Upper Respiratory Tract Infections Completed NCT00887172 Phase 4 Jing Fang Bai Du san;Placebo;Ying Qiao san
12 Lactobacillus Reuteri Reduces Pulmonary Exacerbations and Upper Respiratory Tract Infections in CF Patients With Mild-to-moderate Lung Disease. LR Administration Might Have a Beneficial Effect on the Disease Course of Cystic Fibrosis. Completed NCT01737983 Phase 4
13 A Randomized, Double-blind, Double-dummy, Single-dose, Parallel Group, Multicenter Study to Compare the Antipyretic Efficacy of Acetylsalicy-lic Acid 500 mg and 1,000 mg (2 x 500 mg) and Paracetamol 500 mg and 1,000 mg (2 x 500 mg) With Placebo in Patients With Acute Febrile Upper Respiratory Tract Infections Suspected to be of Viral Origin. Completed NCT01464944 Phase 4 Acetylsalicylic acid (Aspirin, BAYE4465);Acetylsalicylic acid (Aspirin, BAYE4465);Paracetamol;Paracetamol;Placebo
14 Prospective, Pivotal Unicentre, Randomized Double-bind, Placebo-controlled Study, to Evaluate Efficacy and Safety of Bacterial Lysates (Pulmonarom) in the Prevention of Respiratory Tract Infections Completed NCT00599417 Phase 4 Bacterial Lysates;placebo
15 Clinical Trial for the Assessment of Delayed Antibiotic Treatment Strategies in the Non-complicated Acute Respiratory Tract Infections in General Practice Completed NCT01363531 Phase 4
16 Effectiveness and Costs of Combined Influenza and Pneumococcal Vaccination in Pre-School Children With Recurrent Respiratory Tract Infections (RTI): a General Practice-Based Randomized Controlled Trial Completed NCT00161122 Phase 4
17 Clinical Trial for the Assessment of Delayed Antibiotic Treatment in the Non-complicated Acute Respiratory Tract Infections in Pediatric (Study DAP-Pediatrics) Completed NCT01800747 Phase 4
18 Comparison of the Efficacy of Intravenous Paracetamol and Ibuprofen in Patients With Upper Respiratory Tract Infections Presenting With Fever in the Emergency Department Completed NCT03918135 Phase 4 Paracetamol;Ibuprofen
19 Evaluation of the Effects of Enterogermina, 2 Billion Bacillus Clausii Spores, on the Intestinal Flora of Children Antibiotic Treated for Bacterial Upper Respiratory Tract Infections: Open, Pilot Study. Completed NCT00424905 Phase 4 Bacillus clausii
20 Anti-inflammatory Effects of Macrolide Treatment in Influenza Lower Respiratory Tract Infections Completed NCT01779570 Phase 4 Macrolide treatment
21 Rhinovirus Study With Lactobacillus Rhamnosus GG Completed NCT01229917 Phase 4
22 Impact of Vitamin D Supplementation on Recurrent Respiratory Infections in Paediatric Completed NCT02617771 Phase 4 Vitamin D3
23 An RCT in Nursing Homes: the Effect of a Probiotic Treatment With Lactobacillus Casei Shirota on Respiratory Morbidity After Influenza Vaccination of Elderly. Completed NCT00849277 Phase 4 Lactobacillus casei Shirota
24 An Open, Multicenter, Non-comparative, Phase IV Trial of Efficacy and Safety of Ketek(Telithromycin) 800mg Completed NCT00261105 Phase 4 telithromycin
25 Efficacy and Safety of CRO-SBT Performed in Children With Acute Bacterial Infection Completed NCT04066621 Phase 4 Ceftriaxone Sodium and Sulbactam Sodium for Injection
26 Phase IV Study on Piperacillin Sodium and Sulbactam Sodium for Injection(2:1) for Treatment of Respiratory and Urinary System Infection Completed NCT01760109 Phase 4 Piperacillin Sodium and Sulbactam Sodium
27 Clinical Evaluation of a Meropenem Dosage Strategy Based on a Population Pharmacokinetic-pharmacodynamic Model in Lower Respiratory Tract Infection Patients Completed NCT01944319 Phase 4 Routine meropenem therapy;Meropenem therapy based on a PPK and PD model
28 Randomized, Single Blind, Multicenter Study to Evaluate the Efficacy and Tolerability of Syr. Grintuss Pediatric and Syr. Mucolit in Cough Due to Upper Respiratory Tract Infection in Children Completed NCT01968434 Phase 4 carbocisteine cough syrup
29 Impact of Remifentanil Administration on Laryngeal Reflex Responses in Pediatric Patients With Upper Respiratory Anesthetized With Propofol Completed NCT00611195 Phase 4 propofol, remifentanil
30 Pneumococcal Conjugate Vaccine (PCV) Schedules for the Northern Territory (NT): Randomised Controlled Trial of Booster Vaccines to Broaden and Strengthen Protection From Invasive and Mucosal Infections. Completed NCT01735084 Phase 4
31 Effectiveness of a Handwashing Programme in the Prevention of School Absenteeism Due to Respiratory Infections Completed NCT01728090 Phase 4
32 Randomized Double-blind Placebo-controlled Prevention Trial of Azithromycin in Lung Transplantation. Completed NCT01009619 Phase 4 Azithromycin;Placebo
33 Effectiveness Assessment of Vaccinating Schoolchildren Against Influenza the in São Paulo, 2009 Completed NCT01693380 Phase 4
34 The Efficacy and Safety Study of Fuganlin Oral Liquid in Children With Influenza (Acute Upper Respiratory Infection) Completed NCT02622659 Phase 4 Fuganlin Oral Liquid;Xiaoer Jiebiao Oral Liquid
35 Initiating Oseltamivir in Adults Hospitalized With Influenza -- a Study on the Impact of Virological Clearance and Clinical Recovery for Higher-dose Treatment Started Within 96 Hours Completed NCT01052961 Phase 4 Oseltamivir
36 Efficacy Of Nebulised Beclometasone Versus Placebo In Preventing Viral Wheezing In Pre-School Children Completed NCT01265342 Phase 4 Beclomethasone;Placebo
37 Direct and Indirect Benefits of Influenza Vaccination in Schools and Households Completed NCT00981513 Phase 4
38 Short-course Antimicrobial Therapy for Paediatric Respiratory Infections Completed NCT02380352 Phase 4 Amoxicillin;Placebo
39 A Randomized, Double-Blind, Parallel-Group, Multicenter, Placebo-Controlled Study of the Safety and Efficacy of Mucinex D as Adjunct Therapy to Antibiotic Treatment of Acute Respiratory Infection Completed NCT00441246 Phase 4 Mucinex D (600 mg guaifenesin and 60 mg pseudoephedrine HCl extended-release bi-layer tablets)
40 Vitamin A and Zinc: Prevention of Pneumonia (VAZPOP) Study Completed NCT00228254 Phase 4 Zinc (12.5 mg/day);vitamin A 10,000 IU per week
41 A Study to Evaluate the Efficacy of the Nasal Antiseptic, PrevinC, When Administered for the RiskReduction of Rhinitis in Subjects Who Work for Child Day Care Centers Completed NCT02225912 Phase 4 placebo
42 Randomized Clinical Trial to Evaluate Guidelines for Acute Rhinosinusitis (Phase IV Study) Completed NCT00377403 Phase 4 Acetaminophen;Amoxicillin;Dextromethorphan hydrobromide with guaifenesin;Guaifenesin;Pseudoephedrine Sustained Action;Saline spray (0.65%)
43 Use of Cidofovir Injection in the Treatment of Recurrent Respiratory Papillomatosis." Completed NCT00205374 Phase 4 Cidofovir;Placebo
44 A Pilot Study to Evaluate the Potential of Montelukast to Prevent the Development of Nasal Symptomatology During Natural Viral Upper Respiratory Infections Completed NCT00189475 Phase 4 Montelukast;Placebo
45 A Stratified and Controlled Clinical Trial With Split-virion, Non-adjuvanted Influenza A/H1N1 Vaccines in Healthy Pregnant Women Completed NCT01842997 Phase 4
46 Effect of Zinc Sulphate and Zinc Amino Acid Chelate in Prevention Acute Diarrhea and Acute Respiratory Infection, Medellín 2012 Completed NCT01791608 Phase 4
47 Randomised Double Blind Placebo Controlled Multicenter Study for Evaluation of Clinical Efficacy and Safety of Ingavirin 90 mg Once Daily to Treat Influenza and Other Acute Viral Infections in Adults. Completed NCT03154515 Phase 4 Ingavirin;Placebo
48 A 12-week, Randomised, Placebo-controlled, Double-blind, Parallel Group, Multi-center Trial to Assess the Efficacy and Safety of Tiotropium Bromide (18 µg) Delivered Via the HandiHaler® in Patients With Newly Diagnosed and/or Maintenance Treatment naïve Chronic Obstructive Pulmonary Disease (COPD) Experiencing an Acute Respiratory Infection (TICARI 1: Tiotropium In COPD Patients With an Acute Respiratory Infection 1) Completed NCT01483625 Phase 4 tiotropium;Placebo
49 Pidotimod in Children With Recurrent Respiratory Tract Infections (RRI), A Randomized, Double Blind, Placebo Controlled Clinical Trial (P-CRESCENT) Recruiting NCT04322669 Phase 4 Pidotimod;Placebo
50 Bacillus Calmette-Guérin Vaccination To Prevent Serious Respiratory Tract Infection And Covid-19 In Vulnerable Elderly - An Adaptive Randomized Controlled Trial Recruiting NCT04537663 Phase 4 Bacille Calmette-Guérin (BCG);Placebo

Search NIH Clinical Center for Respiratory Papillomatosis, Juvenile Recurrent, Congenital

Cochrane evidence based reviews: respiratory tract infections

Sources

Genetic Tests for Respiratory Papillomatosis, Juvenile Recurrent, Congenital

About this section

Genetic tests related to Respiratory Papillomatosis, Juvenile Recurrent, Congenital:

# Genetic test Affiliating Genes
1 Respiratory Papillomatosis, Juvenile Recurrent, Congenital 29 NLRP1
Sources

Anatomical Context for Respiratory Papillomatosis, Juvenile Recurrent, Congenital

About this section

MalaCards organs/tissues related to Respiratory Papillomatosis, Juvenile Recurrent, Congenital:

40
Lung, Liver, Heart, Bone, Kidney, Tonsil, Tongue
Sources

Publications for Respiratory Papillomatosis, Juvenile Recurrent, Congenital

About this section

Articles related to Respiratory Papillomatosis, Juvenile Recurrent, Congenital:

(show top 50) (show all 154)
# Title Authors PMID Year
1
Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis. 61 57
31484767 2019
2
Positive thinking reduces heart rate and fear responses to speech-phobic imagery. 6
1484767 1992
3
Role of epstein-barr virus in the severity of recurrent respiratory papillomatosis. 61
31860132 2020
4
Human genetic dissection of papillomavirus-driven diseases: new insight into their pathogenesis. 61
32435828 2020
5
Relationship between inflammation and the severity of Recurrent Respiratory Papillomatosis. 61
31787356 2020
6
Clinical and sociodemographic characteristics associated with disease severity in juvenile recurrent respiratory papillomatosis: A study of 104 patients in a tertiary care pediatric hospital. 61
29605367 2018
7
PD-L1 expression and CD8+ infiltration shows heterogeneity in juvenile recurrent respiratory papillomatosis. 61
28576522 2017
8
Juvenile recurrent respiratory papillomatosis: A rare masquerade of asthma. 61
27099660 2015
9
[Utility of positron emission tomography with 18F-FDG in a case of juvenile recurrent respiratory papillomatosis]. 61
23491504 2013
10
[The different experession of human papilloma viral types 6 and 11 in Uyghur and Chinese juvenile recurrent respiratory papillomatosis in a large pediatric population in Xinjiang]. 61
24617003 2013
11
[Long-term therapeutic effects of tracheotomy on children with recurrent laryngeal papillomatosis]. 61
23328033 2012
12
Efficacy of cidofovir in recurrent juvenile respiratory papillomatosis. 61
21180938 2010
13
Identifying the structure of the active sites of human recombinant prolidase. 54
19415262 2010
14
Toll-like receptor 3 agonist protection against experimental Francisella tularensis respiratory tract infection. 54
20123717 2010
15
Oral administration of the probiotic Lactobacillus fermentum VRI-003 and mucosal immunity in endurance athletes. 54
18272539 2010
16
Mannose-binding lectin deficiency and respiratory tract infection. 54
20375630 2010
17
Mannose-binding lectin genotypes: lack of association with susceptibility to thoracic empyema. 54
20078874 2010
18
L-ficolin (ficolin-2) insufficiency is associated with combined allergic and infectious respiratory disease in children. 54
19767106 2009
19
[IgE deficiency: a forgotten disease?]. 54
20088451 2009
20
Mannose-binding lectin polymorphisms and recurrent respiratory tract infection in Chinese children. 54
19169708 2009
21
Recombinant human DNase in children with airway malacia and lower respiratory tract infection. 54
19768804 2009
22
Plasmacytoid dendritic cells during infancy are inversely associated with childhood respiratory tract infections and wheezing. 54
19733903 2009
23
Serum immunoglobulins and risk of infection: how low can you go? 54
18620738 2009
24
[Expression of human beta-defensin-3 induced by lipopolysaccharide in human bronchial epithelial cells]. 54
19650994 2009
25
Interactions of alpha-, beta-, and theta-defensins with influenza A virus and surfactant protein D. 54
19494312 2009
26
Mannose-binding lectin cord blood levels and respiratory symptoms during infancy: a prospective birth cohort study. 54
18700861 2009
27
Mannose-binding lectin is present in the infected airway: a possible pulmonary defence mechanism. 54
18988662 2009
28
[The frequency of detection of IgA, IgG and IgM antibodies to pertussis toxin in patients with respiratory tract infections in Poland]. 54
20120949 2009
29
Isolated growth hormone deficiency in a patient with immunoglobulin class switch recombination deficiency. 54
19610268 2009
30
Polymorphisms in the mannan-binding lectin gene are not associated with questionnaire-reported respiratory tract infections in children. 54
18847375 2008
31
Mycoplasma pneumoniae infection in a pediatric population: analysis of soluble immune markers as risk factors for asthma. 54
18835573 2008
32
Comparative evaluation of efficacy and safety of cefotaxime-sulbactam with amoxicillin-clavulanic acid in children with lower respiratory tract infections. 54
18937610 2008
33
Deficiency of mannose-binding lectin, myopathy, calcified endomyocardial fibrosis, and left ventricular noncompaction. 54
18992631 2008
34
Mannose-binding lectin concentrations, MBL2 polymorphisms, and susceptibility to respiratory tract infections in young men. 54
18729778 2008
35
Mannose-binding lectin gene polymorphic variants predispose to the development of bronchopulmonary complications but have no influence on other clinical and laboratory symptoms or signs of common variable immunodeficiency. 54
18637104 2008
36
Lung inflammation induced by lipoteichoic acid or lipopolysaccharide in humans. 54
18403723 2008
37
Histopathologic Findings of Pneumatocele in a Patient with Hyper-IgE syndrome, compatible with cystic adenomatoid malformation. 54
18552413 2008
38
Probability of achieving requisite pharmacodynamic exposure for oral beta-lactam regimens against Haemophilus influenzae in children. 54
18998749 2008
39
Hyperimmunoglobulin E syndrome (Job's syndrome). 54
19284090 2008
40
The effect of an ultra-endurance running race on mucosal and humoral immune function. 54
18091693 2007
41
MBL2 variants in relation to common childhood infections and atopy-related phenotypes in a large German birth cohort. 54
17651383 2007
42
Left ventricular hypertrabeculation (noncompaction) with prominent calcifications in a patient with mannose-binding lectin deficiency and unclassified myopathy. 54
17868883 2007
43
Arg753Gln polymorphism of the human toll-like receptor-2 gene in children with recurrent febrile infections. 54
17554618 2007
44
Resistance of Haemophilus influenzae isolates in children under 5 years old with acute respiratory infections in China between 2000 and 2002. 54
17697534 2007
45
Relationships between cotinine, lower respiratory tract infection, and eosinophil cationic protein in children. 54
16977438 2007
46
House cleaning with chlorine bleach and the risks of allergic and respiratory diseases in children. 54
17295796 2007
47
[Therapeutic effects and prognostic factors in tonsillectomy patients with IgA nephropathy]. 54
17373325 2007
48
Significance of human beta-defensins in the epithelial lining fluid of patients with chronic lower respiratory tract infections. 54
17184289 2007
49
Coexistence of (partial) immune defects and risk of recurrent respiratory infections. 54
17110469 2007
50
Alpha-1-antitrypsin (AAT) anomalies are associated with lung disease due to rapidly growing mycobacteria and AAT inhibits Mycobacterium abscessus infection of macrophages. 54
17654345 2007
Sources

Variations for Respiratory Papillomatosis, Juvenile Recurrent, Congenital

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ClinVar genetic disease variations for Respiratory Papillomatosis, Juvenile Recurrent, Congenital:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NLRP1 NM_033004.4(NLRP1):c.2264C>A (p.Thr755Asn) SNV Pathogenic 827581 rs1597458411 GRCh37: 17:5461752-5461752
GRCh38: 17:5558432-5558432
2 OCA2 NM_000275.3(OCA2):c.2020C>G (p.Leu674Val) SNV Uncertain significance 194918 rs371412500 GRCh37: 15:28171332-28171332
GRCh38: 15:27926186-27926186

UniProtKB/Swiss-Prot genetic disease variations for Respiratory Papillomatosis, Juvenile Recurrent, Congenital:

72
# Symbol AA change Variation ID SNP ID
1 NLRP1 p.Thr755Asn VAR_083844

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Expression for Respiratory Papillomatosis, Juvenile Recurrent, Congenital

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Search GEO for disease gene expression data for Respiratory Papillomatosis, Juvenile Recurrent, Congenital.
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Pathways for Respiratory Papillomatosis, Juvenile Recurrent, Congenital

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Pathways related to Respiratory Papillomatosis, Juvenile Recurrent, Congenital according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Innate Immune System 65
Show member pathways
 13.15 NLRP1 NEU1 MBL2 CD79A CD40LG
2
NF-kappaB Signaling 4
11.65 NLRP1 CD79A CD40LG
3
Primary immunodeficiency 36
10.2 CD79A CD40LG
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GO Terms for Respiratory Papillomatosis, Juvenile Recurrent, Congenital

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Biological processes related to Respiratory Papillomatosis, Juvenile Recurrent, Congenital according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 B cell differentiation GO:0030183 8.96 CD79A CD40LG
2 B cell proliferation GO:0042100 8.62 CD79A CD40LG
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Sources for Respiratory Papillomatosis, Juvenile Recurrent, Congenital

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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