ORPHA:714423

Infantile-onset inflammatory bowel disease-hearing loss-recurrent infections syndrome

Orphadata ships no English definition for this code.

Names in Orphadata languages

9 of 12 languages

Lang	Name	Synonyms
en	Infantile-onset inflammatory bowel disease-hearing loss-recurrent infections syndrome
fr	Syndrome inflammatoire de l'intestin-surdité-infections récurrentes à début infantile
de	Sehr früh einsetzende entzündliche Darmerkrankung mit Hörverlust und Immundefekt	VEOIBD mit Schwerhörigkeit und rekurrenten Infektionen
es	Síndrome de enfermedad inflamatoria intestinal-hipoacusia-infecciones recurrentes de inicio infantil
it	Sindrome malattia infiammatoria dellintestino ad esordio infantile-sordità-infezioni ricorrenti
nl	Infantiel optredend inflammatoire darmziekte - gehoorverlies - recidiverende infecties-syndroom	Inflammatoire darmziekte - gehoorverlies - recidiverende infecties-syndroom beginnend op zuigelingenleeftijd
pt	Infantile-onset inflammatory bowel disease-hearing loss-recurrent infections syndrome
pl	Zespół z nieswoistym zapaleniem jelit o początku w wieku niemowlęcym, niedosłuchem i nawracającymi zakażeniami
cs	Infantile-onset inflammatory bowel disease-hearing loss-recurrent infections syndrome

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	K52.8	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 (3):

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
ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
STXBP3	Disease-causing germline mutation(s) in	Assessed	HGNC:11446	ENSG00000116266	608339	1p13.3	syntaxin binding protein 3	33891011[PMID]

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		10 cases	Worldwide	Case(s)	Validated	33891011[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	33891011[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.