ORPHA:714472

Inflammatory bowel disease-autoimmunity-sinopulmonary infections-lymphadenopathy syndrome

Synonyms: BACH2-related immunodeficiency-autoimmunity syndrome

Orphadata ships no English definition for this code.

Names in Orphadata languages

9 of 12 languages

Lang	Name	Synonyms
en	Inflammatory bowel disease-autoimmunity-sinopulmonary infections-lymphadenopathy syndrome	BACH2-related immunodeficiency-autoimmunity syndrome
fr	Syndrome inflammatoire de l'intestin-auto-immunité-infections sinopulmonaires-lymphadénopathie	Syndrome de déficit immunitarie-autoimmunité lié à BACH2
de	Inflammatorische Darmerkrankung-Autoimmunität-Sinopulmonale Infektionen-Lymphadenopathie-Syndrom	BRIDA · BACH2-assoziierter Immundefekt und Autoimmunität
es	Síndrome de enfermedad inflamatoria intestinal-autoinmunidad-infecciones sinopulmonares-linfadenopatía	Síndrome de inmunodeficiencia-autoinmunidad asociada al gen BACH2
it	Sindrome malattia infiammatoria intestinale-autoimmunità-infezioni sinopulmonari-linfoadenopatia	Sindrome immunodeficienza-autoimmunità correlata a BACH2 · Immunodeficienza-autoimmunità associate al gene BACH2
nl	Inflammatoire darmziekte - auto-immuniteit - sinopulmonale infecties - lymfadenopathie-syndroom	BACH2-gerelateerd immuundeficiëntie - auto-immuniteit-syndroom
pt	Inflammatory bowel disease-autoimmunity-sinopulmonary infections- lymphadenopathy syndrome
pl	Zespół z nieswoistym zapaleniem jelit, autoimmunizacją, zakażeniami zatok i płuc oraz limfadenopatią	= en
cs	Inflammatory bowel disease-autoimmunity-sinopulmonary infections-lymphadenopathy syndrome	= en

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	618394	E		validated
ICD-10	D89.8	NTBT	attributed	validated

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

Preferential parent (Orphanet linearisation):

Parents in the classifications (2):

ORPHA:169361Immune dysregulation disease with immunodeficiency
rare genetic diseases; rare immunological diseases
ORPHA:717757Rare immune disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
BACH2	Disease-causing germline mutation(s) in	Assessed	HGNC:14078	ENSG00000112182	605394	6q15	BACH transcriptional regulator 2	28530713[PMID]

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		3 cases	Worldwide	Case(s)	Validated	28530713[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	28530713[PMID]_ORPHANET

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

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