JRRP
MCID: RSP027
MIFTS: 16

Respiratory Papillomatosis, Juvenile Recurrent, Congenital (JRRP)

Categories: Genetic diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Respiratory Papillomatosis, Juvenile Recurrent, Congenital

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

Name: Respiratory Papillomatosis, Juvenile Recurrent, Congenital 56 6
Jrrp 56

Characteristics:

OMIM:

56
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:



External Ids:

OMIM 56 618803
SNOMED-CT via HPO 68 258211005 50219008

Summaries for Respiratory Papillomatosis, Juvenile Recurrent, Congenital

OMIM : 56 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)

MalaCards based summary : Respiratory Papillomatosis, Juvenile Recurrent, Congenital, is also known as jrrp. An important gene associated with Respiratory Papillomatosis, Juvenile Recurrent, Congenital is NLRP1 (NLR Family Pyrin Domain Containing 1). Affiliated tissues include heart, and related phenotype is hoarse voice.

Related Diseases for Respiratory Papillomatosis, Juvenile Recurrent, Congenital

Diseases in the Recurrent Respiratory Papillomatosis family:

Respiratory Papillomatosis, Juvenile Recurrent, Congenital

Symptoms & Phenotypes for Respiratory Papillomatosis, Juvenile Recurrent, Congenital

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

Symptoms via clinical synopsis from OMIM:

56
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

Drugs & Therapeutics for Respiratory Papillomatosis, Juvenile Recurrent, Congenital

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

Genetic Tests for Respiratory Papillomatosis, Juvenile Recurrent, Congenital

Anatomical Context for Respiratory Papillomatosis, Juvenile Recurrent, Congenital

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

40
Heart

Publications for Respiratory Papillomatosis, Juvenile Recurrent, Congenital

Articles related to Respiratory Papillomatosis, Juvenile Recurrent, Congenital:

(show all 12)
# Title Authors PMID Year
1
Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis. 56 61
31484767 2019
2
Positive thinking reduces heart rate and fear responses to speech-phobic imagery. 6
1484767 1992
3
Human genetic dissection of papillomavirus-driven diseases: new insight into their pathogenesis. 61
32435828 2020
4
Relationship between inflammation and the severity of Recurrent Respiratory Papillomatosis. 61
31787356 2020
5
Role of epstein-barr virus in the severity of recurrent respiratory papillomatosis. 61
31860132 2019
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

Variations for Respiratory Papillomatosis, Juvenile Recurrent, Congenital

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

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NLRP1 NM_033004.4(NLRP1):c.2264C>A (p.Thr755Asn)SNV Pathogenic 827581 17:5461752-5461752 17:5558432-5558432

Expression for Respiratory Papillomatosis, Juvenile Recurrent, Congenital

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

Pathways for Respiratory Papillomatosis, Juvenile Recurrent, Congenital

GO Terms for Respiratory Papillomatosis, Juvenile Recurrent, Congenital

Sources for Respiratory Papillomatosis, Juvenile Recurrent, Congenital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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