ORPHA:675628

TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome

Synonyms: INFLTR8 · Toll-like receptor 8-associated inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome

Type: Disease
Group: Disorder
Inheritance: X-linked recessive
Status: active

Orphadata ships no English definition for this code.

Names in Orphadata languages

10 of 12 languages

Lang	Name	Synonyms
en	TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome	INFLTR8 · Toll-like receptor 8-associated inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome
fr	Syndrome d'inflammation-neutropénie sévère-insuffisance médullaire-lymphoprolifération associé à TLR8	Syndrome d'inflammation-neutropénie sévère-insuffisance médullaire-lymphoprolifération associé à Toll-like receptor 8
de	TLR8-assoziierte Inflammation-schwere Neutropenie-Knochenmarkversagen-lymphoproliferatives Syndrom	INFLTR8 · Toll-like-Rezeptor 8-assoziierte Entzündung-schwere Neutropenie-Knochenmarkversagen-lymphoproliferatives Syndrom
es	Síndrome de inflamación-neutropenia grave-insuficiencia medular-linfoproliferación asociado a TLR8	INFLTR8 · Síndrome de inflamación-neutropenia grave-insuficiencia medular-linfoproliferación asociada al receptor 8 tipo toll
it	Sindrome infiammazione-neutropenia grave-insufficienza midollare-linfoproliferazione correlata a TLR8	INFLTR8 · Sindrome infiammazione-neutropenia grave-insufficienza midollare-linfoproliferazione associata al recettore 8 toll-like · Sindrome infiammazione-neutropenia grave-insufficienza midollare-linfoproliferazione correlata al recettore toll-like 8
nl	TLR8-gerelateerd inflammatie - ernstige neutropenie - beenmergfalen - lymfoproliferatie-syndroom	INFLTR8 · Toll-like receptor 8-geassocieerd inflammatie - ernstige neutropenie - beenmergfalen - lymfoproliferatie-syndroom
pt	Síndrome de inflamação TLR8-relacionada-neutropenia grave-falência da medula óssea-linfoproliferação	INFLTR8 · Síndrome de inflamação associada a recetor 8 toll-like-neutropenia grave-falência da medula óssea-linfoproliferação
pl	Zapalenie związane z TLR8 – ciężka neutropenia – niewydolność szpiku kostnego – zespół limfoproliferacji	Zespół zapalenia związanego z TLR8 – ciężkiej neutropenii – niewydolności szpiku kostnego – limfoproliferacji
cs	TLR8 asociovaný syndrom zahrnující zánět, těžkou neutropenii, selhání kostní dřeně a lymfoproliferaci	= en
uk	TLR8-повязаний синдром запалення-тяжкої нейтропенії-недостатності кісткового мозку- лімфопроліферації	INFLTR8 · Toll-подібний рецептор 8-асоційоване запалення-тяжка нейтропенія-відмова кісткового мозку-лімфопроліферативний синдром

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	Validation
OMIM	301078	E	validated
MONDO	0024777	E	validated
MONDO	24777	E	validated
UMLS	C5676883	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:98004Rare immune disease

Parents in the classifications (2):

ORPHA:98290Immunodeficiency-associated lymphoproliferative disease
rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders
ORPHA:331184Syndrome with congenital neutropenia as a major feature
rare genetic diseases; rare immunological diseases; rare transplant-related disorders

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
TLR8	Disease-causing germline mutation(s) (gain of function) in	Assessed	HGNC:15632	ENSG00000101916	300366	Xp22.2	toll like receptor 8	33512449[PMID]

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/675628
This record as JSON: /data/d/675628.json