ORPHA:723161

Combined immunodeficiency due to NFATC1 deficiency

Synonyms: CID due to NFATC1 deficiency · Combined immunodeficiency due to nuclear factor of activated T-cells 1 deficiency

Orphadata ships no English definition for this code.

Names in Orphadata languages

9 of 12 languages

Lang	Name	Synonyms
en	Combined immunodeficiency due to NFATC1 deficiency	CID due to NFATC1 deficiency · Combined immunodeficiency due to nuclear factor of activated T-cells 1 deficiency
fr	Déficit immunitaire combiné par déficience en protéine NFATC1	DIC par déficit en NFATC1 · CID par déficit en NFATC1 · Déficit immunitaire combiné par déficit en protéine nuclear factor of activated T-cells 1
de	Kombinierter Immundefekt durch NFATC1-Mangel	CID durch NFATC1-Defizienz
es	Inmunodeficiencia combinada por deficiencia de NFATC1	Inmunodeficiencia combinada por deficiencia del factor nuclear de células T activadas 1 · CID por deficiencia de NFATC1 · IDC por deficiencia de NFATC1
it	Immunodeficienza combinata da deficit di NFATC1	DIC da deficit di NFATC1 · Immunodeficienza combinata da deficit del fattore nucleare delle cellule T attivate 1
nl	Gecombineerde immuundeficiëntie door NFATC1-deficiëntie	CID door NFATC1-deficiëntie · Gecombineerde immuundeficiëntie door deficiëntie van nucleaire factor van geactiveerde T-cellen 1 · Gecombineerde immuundeficiëntie door deficiëntie van 'nuclear factor of activated T-cells 1'
pt	Combined immunodeficiency due to NFATC1 deficiency
pl	Combined immunodeficiency due to NFATC1 deficiency	= en
cs	Combined immunodeficiency due to NFATC1 deficiency	= en

qualifier = Orphanet mapping relation

No cross-references in this release.

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

ORPHA:688571Combined immunodeficiency with low immunoglobulins and normal B cells
rare genetic diseases; rare immunological diseases; rare transplant-related disorders

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
NFATC1	Disease-causing germline mutation(s) in	Assessed	HGNC:7775	ENSG00000131196	600489	18q23	nuclear factor of activated T cells 1	37249233[PMID]

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		9 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.