ORPHA:714496

Immunodeficiency-congenital thrombocytopenia-hypereosinophilia-colitis-vasculitis syndrome

Synonyms: ARPC1B-related hypereosinophilia-congenital thrombocytopenia-colitis-vasculitis syndrome

Orphadata ships no English definition for this code.

Names in Orphadata languages

9 of 12 languages

Lang	Name	Synonyms
en	Immunodeficiency-congenital thrombocytopenia-hypereosinophilia-colitis-vasculitis syndrome	ARPC1B-related hypereosinophilia-congenital thrombocytopenia-colitis-vasculitis syndrome
fr	Syndrome de déficit immunitaire-thrombocytopénie congénitale- hyperéosinophilie-colite-vascularite	Syndrome de déficit immunitaire-thrombocytopénie congénitale- hyperéosinophilie-colite-vascularite associé à ARPC1B
de	Immundefekt-kongenitale Thrombozytopenie-Hypereosinophilie-Kolitis-Vaskulitis-Syndrom	ARPC1B-Defizienz
es	Síndrome de inmunodeficiencia-trombocitopenia congénita-hipereosinofilia-colitis-vasculitis	Síndrome de hipereosinofilia-trombocitopenia congénita-colitis-vasculitis asociado a ARPC1B
it	Sindrome immunodeficienza-trombocitopenia congenita-ipereosinofilia-colite-vasculite	Sindrome ipereosinofilia-trombocitopenia congenita-colite-vasculite correlata ad ARPC1B
nl	Immuundeficiëntie - congenitale trombocytopenie - hypereosinofilie - colitis - vasculitis-syndroom	ARPC1B-gerelateerd hypereosinofilie - congenitale trombocytopenie - colitis - vasculitis-syndroom
pt	Immunodeficiency-congenital thrombocytopenia-hypereosinophilia-colitis-vasculitis syndrome
pl	Zespół niedoboru odporności, wrodzonej małopłytkowości, hipereozynofilii, zapalenia jelita grubego i zapalenia naczyń	= en
cs	Immunodeficiency-congenital thrombocytopenia-hypereosinophilia-colitis-vasculitis syndrome	= en

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	617718	E		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:477794Syndromic constitutional thrombocytopenia
rare genetic diseases; rare hematological diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
ARPC1B	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:704	ENSG00000130429	604223	7q22.1	actin related protein 2/3 complex subunit 1B	28368018[PMID]

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		15 cases	Worldwide	Case(s)	Validated	ORPHANET
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	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.