ORPHA:692812

RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome

Synonyms: Combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome related to Rac family small GTPase 2 · RAC2-related CID

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant, Autosomal recessive
Age of onset: Infancy
Status: active

Orphadata ships no English definition for this code.

Names in Orphadata languages

9 of 12 languages

Lang	Name	Synonyms
en	RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome	Combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome related to Rac family small GTPase 2 · RAC2-related CID
fr	Syndrome de bronchectasie-déficit immunitaire combiné-prédisposition aux cancers associé à RAC2	CID liée à RAC2 · DIC lié à RAC2 · Déficit immunitaire combiné lié à RAC2 · Immunodéficience combinée liée à RAC2
de	RAC2-assoziierter syndromaler Immundefekt mit Bronchiektasie und Krebs-Prädispositionssyndrom	Kombinierte Immundefizienz-Bronchiektasie-Krebsprädispositionssyndrom in Assoziation mit der kleinen GTPase 2 der Rac-Familie · Kombinierter Immundefekt durch RAC2-Defekt
es	Síndrome de inmunodeficiencia combinada-bronquiectasias-predisposición al cáncer asociado a RAC2	IDC relacionada con RAC2 · Síndrome de inmunodeficiencia combinada-bronquiectasias-predisposición al cáncer asociado a la GTPasa 2 pequeña de la familia Rac
it	Combined immunodeficiency-bronchiectasis-cancer predisposing syndrome
nl	RAC2-gerelateerd gecombineerde immuundeficiëntie - bronchiëctasie - kankerpredispositie-syndroom	Gecombineerde immuundeficiëntie - bronchiëctasie - kankerpredispositie-syndroom gerelateerd aan Rac-familie klein GTPase 2 · RAC2-gerelateerde CID
pt	Síndrome de imunodeficiência combinada-bronquiectasia-predisposição para o cancro RAC2-relacionada	CID RAC2-relacionado · Síndrome de imunodeficiência combinada-bronquiectasia-predisposição para o cancro relacionada com a GTPase 2 pequena da família Rac
pl	Złożony zespół niedoboru odporności, rozstrzenii oskrzeli i predyspozycji do nowotworów związany z RAC2	= en
cs	Syndrom zahrnující kombinovanou imunodeficienci, bronchiektázii a predispozici k rakovině	= en

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	618986	BTNT		validated
OMIM	618987	BTNT		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 (5):

ORPHA:688571Combined immunodeficiency with low immunoglobulins and normal B cells
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
ORPHA:140162Inherited cancer-predisposing syndrome
rare genetic diseases; rare neoplastic diseases
ORPHA:506222Rare disorder potentially indicated for lung transplant
rare transplant-related disorders
ORPHA:156610Rare genetic respiratory disease
rare genetic diseases
ORPHA:101944Rare pulmonary disease
rare respiratory diseases

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
RAC2	Disease-causing germline mutation(s) in	Assessed	HGNC:9802	ENSG00000128340	602049	22q13.1	Rac family small GTPase 2	38410820[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		37 families	Worldwide	Family(ies)	Validated	35596857[PMID]_25512081[PMID]_38194689[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	35596857[PMID]_25512081[PMID]_38194689[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.

HPO phenotypes

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

Sources for this card

Orphanet page: orpha.net/en/disease/detail/692812
This record as JSON: /data/d/692812.json