Respiratory papillomatosis, juvenile recurrent, congenital

Preferred Label : Respiratory papillomatosis, juvenile recurrent, congenital;

Symbol : JRRP;

CISMeF acronym : JRRP;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the NLR family, pyrin domain-containing 1 gene (NLRP1, 606636.0008);

Laboratory abnormalities : Increased serum TNF-alpha; Abnormal activation of the inflammasome; Increased serum IL1RA; No evidence of infection with HPV6 or HPV11; Increased serum IL18;

Prefixed ID : #618803;

Détails

Origin ID

618803;

UMLS CUI

C5394112;

Genes related to phenotype
- Nlr family, pyrin domain-containing 1 [OMIM gene]
HPO term(s)
- Atrophodermia vermiculata [HPO term]
- Autosomal recessive inheritance [HPO term]
- Hoarse voice [HPO term]
- Keratosis pilaris [HPO term]
- Laryngeal papilloma [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Position du mot-clé dans l'(les) arborescence(s) :

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