ORPHA:60032

Recurrent respiratory papillomatosis

Type: Disease
Group: Disorder
Inheritance: Not applicable
Age of onset: Adolescent, Adult, Childhood, Infancy
Status: active

A rare respiratory disease characterized by the development of exophytic papillomas, affecting the mucosa of the upper aero-digestive tract (with a strong predilection for the larynx), caused by an infection with human papilloma virus. Symptoms at presentation vary with the age of patients and the extent of lesions and include dysphonia, chronic cough and recurrent respiratory infections.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Recurrent respiratory papillomatosis
fr	Papillomatose respiratoire récurrente
de	Papillomatose, rekurrente respiratorische
es	Papilomatosis respiratoria recurrente
it	Papillomatosi respiratoria ricorrente
nl	Recidiverende respiratoire papillomatose	Larynxpapilloom · RRP
pt	Papilomatose respiratória recorrente
pl	Nawrotowa brodawczakowatość dróg oddechowych
cs	Rekurentní respirační papilomatóza
uk	Рецидивуючий респіраторний папіломатоз
zh	复发性呼吸道乳头状瘤病
tr	Tekrarlayan solunum papillomatozu

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	D14.4	NTBT	attributed	validated
ICD-11	2F00.1	E	specific	validated
MONDO	0018955	E		validated
MeSH	C535297	E		validated
UMLS	C1168198	E		validated
GARD	111	E		validated
MedDRA	10059314	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:97955Rare respiratory disease

Parents in the classifications (2):

ORPHA:98036Rare otorhinolaryngologic disease
rare otorhinolaryngological diseases
ORPHA:101944Rare pulmonary disease
rare respiratory diseases

No children.

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

6 records

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	1-9 / 100 000	4 / 100 000	Netherlands	Value and class	Validated	EXPERT_ORPHANET
Annual incidence	1-9 / 1 000 000	0.16 / 100 000	Netherlands	Value and class	Validated	EXPERT_ORPHANET
Annual incidence	1-9 / 100 000	2.34 / 100 000	United States	Value and class	Validated	7488368[PMID]_20553527[PMID]
Annual incidence	1-9 / 1 000 000	0.76 / 100 000	Denmark	Value and class	Validated	2350888[PMID]_20553527[PMID]
Point prevalence	1-9 / 100 000	1.42 / 100 000	United Kingdom	Value and class	Validated	27208548[PMID]
Point prevalence	1-9 / 100 000	—	Europe	Class only	Validated	ORPHANET_27208548[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

23 annotations · validated 2019-05-28

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0001609	Hoarse voice
Frequent (79-30%)
HP:0002778	Abnormal trachea morphology
HP:0001618	Dysphonia
HP:0002098	Respiratory distress
Occasional (29-5%)
HP:0002015	Dysphagia
HP:0002094	Dyspnea
HP:0001508	Failure to thrive
HP:0002105	Hemoptysis
HP:0031246	Nonproductive cough
HP:0006532	Recurrent pneumonia
HP:0002788	Recurrent upper respiratory tract infections
HP:0002093	Respiratory insufficiency
HP:0010307	Stridor
HP:0002789	Tachypnea
HP:0002781	Upper airway obstruction
HP:0030828	Wheezing
Very rare (<4-1%)
HP:0002088	Abnormal lung morphology
HP:0100750	Atelectasis
HP:0030842	Choking episodes
HP:0001945	Fever
HP:0002860	Squamous cell carcinoma
HP:0001279	Syncope
HP:0002779	Tracheomalacia

Run the differential on the 1 obligate / very frequent terms

Annotation source: 25999724[PMID]_29605367[PMID]_29800325[PMID]_30406011[PMID]_28427542[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/60032
This record as JSON: /data/d/60032.json