ORPHA:696942

Childhood-onset common variable immunodeficiency phenotype due to ARHGEF1 deficiency

Synonyms: Childhood-onset CVID phenotype due to ARHGEF1 deficiency · Childhood-onset common variable immunodeficiency phenotype due to Rho guanine nucleotide exchange factor 1 deficiency

Type: Disease
Group: Disorder
Inheritance: Autosomal recessive
Age of onset: Childhood
Status: active

Orphadata ships no English definition for this code.

Names in Orphadata languages

9 of 12 languages

Lang	Name	Synonyms
en	Childhood-onset common variable immunodeficiency phenotype due to ARHGEF1 deficiency	Childhood-onset CVID phenotype due to ARHGEF1 deficiency · Childhood-onset common variable immunodeficiency phenotype due to Rho guanine nucleotide exchange factor 1 deficiency
fr	Phénotype de déficit immunitaire commun variable de l'enfance par déficit en ARGHGEF1	Phénotype de CVID de l'enfance par déficit en ARHGEF1 · Phénotype de DICV de l'enfance par déficit en ARHGEF1 · Phénotype de déficit immunitaire commun variable de l'enfance par déficit en Rho guanine exchange factor 1
de	Variables Immundefekt-Syndrom durch ARHGEF1-Mangel mit Beginn im Kindesalter	CVID durch ARHGEF1-Defizienz
es	Fenotipo de inmunodeficiencia común variable por deficiencia de ARHGEF1 de inicio en la infancia	Fenotipo de CVID por deficiencia de ARHGEF1 de inicio en la infancia · Fenotipo de IDCV por deficiencia de ARHGEF1 de inicio en la infancia · Fenotipo de inmunodeficiencia común variable por deficiencia del factor de intercambio de nucleótidos de guanina Rho 1 de inicio en la infancia
it	Fenotipo dell'immunodeficienza comune variabile ad esordio infantile da deficit di ARHGEF1	Fenotipo della CVID ad esordio infantile da deficit di ARHGEF1 · Fenotipo dellimmunodeficienza comune variabile ad esordio infantile da deficit del fattore 1 di scambio guanina nucleotide Rho · Fenotipo dell'immunodeficienza comune variabile ad esordio infantile da deficit del fattore 1 di scambio del nucleotide guanina Rho
nl	Fenotype van gewone variabele immuundeficiëntie door ARHGEF1-deficiëntie met aanvang in de kindertijd	Fenotype van gewone variabele immuundeficiëntie door deficiëntie van Rho-guaninenucleotide-uitwisselingsfactor 1 met aanvang in de kindertijd · CVID-fenotype door ARHGEF1-deficiëntie met aanvang in de kindertijd
pt	Childhood-onset common variable immunodeficiency due to ARHGEF1 deficiency
pl	Childhood-onset common variable immunodeficiency phenotype due to ARHGEF1 deficiency	= en
cs	Childhood-onset common variable immunodeficiency phenotype due to ARHGEF1 deficiency	= en

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	618459	E		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 (1):

ORPHA:696870Common variable immunodeficiency phenotype due to germinal monogenic mutation
rare genetic diseases; rare immunological diseases

No children.

Genes

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
ARHGEF1	Disease-causing germline mutation(s) in	Assessed	HGNC:681	ENSG00000076928	601855	19q13.2	Rho guanine nucleotide exchange factor 1	30521495[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		2 cases	Worldwide	Case(s)	Validated	30521495[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	30521495[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/696942
This record as JSON: /data/d/696942.json