ORPHA:696894

Common variable immunodeficiency phenotype due to CD21 deficiency

Synonyms: CVID phenotype due to CD21 deficiency · Common variable immunodeficiency phenotype due to cluster of differentiation 21 deficiency

Orphadata ships no English definition for this code.

Names in Orphadata languages

9 of 12 languages

Lang	Name	Synonyms
en	Common variable immunodeficiency phenotype due to CD21 deficiency	CVID phenotype due to CD21 deficiency · Common variable immunodeficiency phenotype due to cluster of differentiation 21 deficiency
fr	Phénotype de déficit immunitaire commun variable par déficit en CD21	Phénotype d'immunodéficience commune variable par déficit en CD21 · Phénotype de CVID par déficit en CD21 · Phénotype de DICV par déficit en CD21 · Phénotype de déficit immunitaire commun variable par déficit en protéine cluster of differentiation 21
de	Variables Immundefekt-Syndrom durch CD21-Mangel	CVID durch CD21-Defizienz
es	Fenotipo de inmunodeficiencia común variable por deficiencia de CD21	Fenotipo de IDCV por deficiencia de CD21 · Fenotipo de inmunodeficiencia común variable por deficiencia del grupo de diferenciación 21
it	Fenotipo dellimmunodeficienza comune variabile da deficit di CD21	Fenotipo della CVID da deficit di CD21 · Fenotipo dellimmunodeficienza comune variabile da deficit del cluster di differenziazione 21
nl	Fenotype van gewone variabele immuundeficiëntie door CD21-deficiëntie	CVID-fenotype door CD21-deficiëntie · Fenotype van gewone variabele immuundeficiëntie door deficiëntie van cluster van differentiatie 21
pt	Common variable immunodeficiency phenotype due to CD21 deficiency
pl	Common variable immunodeficiency phenotype due to CD21 deficiency	= en
cs	Common variable immunodeficiency phenotype due to CD21 deficiency	= en

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	614699	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 (1):

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
CR2	Disease-causing germline mutation(s) in	Assessed	HGNC:2336	ENSG00000117322	120650	1q32.2	complement C3d receptor 2	38817346[PMID]_22035880[PMID]

0 records

No prevalence record in this release.

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