Respiratory Papillomatosis, Juvenile Recurrent, Congenital disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Respiratory diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 618803

SNOMED-CT via HPO ⁶⁸ 258211005 50219008

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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.

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Related Diseases for Respiratory Papillomatosis, Juvenile Recurrent, Congenital

Diseases in the Recurrent Respiratory Papillomatosis family:

Respiratory Papillomatosis, Juvenile Recurrent, Congenital

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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

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Drugs & Therapeutics for Respiratory Papillomatosis, Juvenile Recurrent, Congenital

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

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Genetic Tests for Respiratory Papillomatosis, Juvenile Recurrent, Congenital

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Anatomical Context for Respiratory Papillomatosis, Juvenile Recurrent, Congenital

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

⁴⁰

Heart

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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	Drutman SB...Casanova JL	31484767	2019
2	Positive thinking reduces heart rate and fear responses to speech-phobic imagery. ⁶	Hu S...Klein S	1484767	1992
3	Human genetic dissection of papillomavirus-driven diseases: new insight into their pathogenesis. ⁶¹	Beziat V	32435828	2020
4	Relationship between inflammation and the severity of Recurrent Respiratory Papillomatosis. ⁶¹	El Achkar VNR...Kaminagakura E	31787356	2020
5	Role of epstein-barr virus in the severity of recurrent respiratory papillomatosis. ⁶¹	Costa V...Kaminagakura E	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	Reyes LM...Alvarez-Neri H	29605367	2018
7	PD-L1 expression and CD8+ infiltration shows heterogeneity in juvenile recurrent respiratory papillomatosis. ⁶¹	Liu T...Hartnick C	28576522	2017
8	Juvenile recurrent respiratory papillomatosis: A rare masquerade of asthma. ⁶¹	Boo WH...Lee PY	27099660	2015
9	[Utility of positron emission tomography with 18F-FDG in a case of juvenile recurrent respiratory papillomatosis]. ⁶¹	Navales I...Pons F	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	Zainura A...Wu M	24617003	2013
11	[Long-term therapeutic effects of tracheotomy on children with recurrent laryngeal papillomatosis]. ⁶¹	Guo YL...Zhang TS	23328033	2012
12	Efficacy of cidofovir in recurrent juvenile respiratory papillomatosis. ⁶¹	Valera F...Ricz H	21180938	2010

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Genes for Respiratory Papillomatosis, Juvenile Recurrent, Congenital

Genes related to Respiratory Papillomatosis, Juvenile Recurrent, Congenital (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	NLRP1	NLR Family Pyrin Domain Containing 1	Protein Coding	957.87	Molecular basis known ⁵⁶ Pathogenic ⁶ Unconfirmed association ⁵⁶ GeneCards inferred via : Variants (show sections)	1484767

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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

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Expression for Respiratory Papillomatosis, Juvenile Recurrent, Congenital

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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GO Terms for Respiratory Papillomatosis, Juvenile Recurrent, Congenital

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⁷⁴ Wikipedia

Respiratory Papillomatosis, Juvenile Recurrent, Congenital (JRRP)

Aliases & Classifications for Respiratory Papillomatosis, Juvenile Recurrent, Congenital

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

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Respiratory Papillomatosis, Juvenile Recurrent, Congenital

Related Diseases for Respiratory Papillomatosis, Juvenile Recurrent, Congenital

Diseases in the Recurrent Respiratory Papillomatosis family:

Symptoms & Phenotypes for Respiratory Papillomatosis, Juvenile Recurrent, Congenital

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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics 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:

Publications for Respiratory Papillomatosis, Juvenile Recurrent, Congenital

Articles related to Respiratory Papillomatosis, Juvenile Recurrent, Congenital:

Genes for Respiratory Papillomatosis, Juvenile Recurrent, Congenital

Genes related to Respiratory Papillomatosis, Juvenile Recurrent, Congenital (1 elite genes):

Variations for Respiratory Papillomatosis, Juvenile Recurrent, Congenital

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

Expression 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