JRRP
MCID: RSP027
MIFTS: 16
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Respiratory Papillomatosis, Juvenile Recurrent, Congenital (JRRP)
Categories:
Genetic diseases, Rare diseases, Respiratory diseases
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MalaCards integrated aliases for Respiratory Papillomatosis, Juvenile Recurrent, Congenital:
Name: Respiratory Papillomatosis, Juvenile Recurrent, Congenital
56
6
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: |
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. |
Diseases in the Recurrent Respiratory Papillomatosis family:
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Human phenotypes related to Respiratory Papillomatosis, Juvenile Recurrent, Congenital:31
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:618803 |
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MalaCards organs/tissues related to Respiratory Papillomatosis, Juvenile Recurrent, Congenital:40
Heart
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Articles related to Respiratory Papillomatosis, Juvenile Recurrent, Congenital:(show all 12)
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ClinVar genetic disease variations for Respiratory Papillomatosis, Juvenile Recurrent, Congenital:6
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Search
GEO
for disease gene expression data for Respiratory Papillomatosis, Juvenile Recurrent, Congenital.
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