ORPHA:730318

ITPR3-related combined immunodeficiency-ectodermal dysplasia syndrome

Orphadata ships no English definition for this code.

Names in Orphadata languages

9 of 12 languages

Lang	Name	Synonyms
en	ITPR3-related combined immunodeficiency-ectodermal dysplasia syndrome
fr	Syndrome d'immunodéficience combiné-dysplasie ectodermale associé à ITPR3	Syndrome de déficit immunitaire combiné-dysplasie ectodermale associé à ITPR3
de	Kombinierter Immundefekt-ektodermale Dysplasie-Syndrom, ITPR3-assoziiert
es	Síndrome de inmunodeficiencia combinada-displasia ectodérmica asociado al gen ITPR3
it	Sindrome immunodeficienza combinata-displasia ectodermica correlata a ITPR3
nl	ITPR3-gerelateerde gecombineerde immuundeficiëntie - ectodermale dysplasie-syndroom
pt	ITPR3-related combined immunodeficiency-ectodermal dysplasia syndrome
pl	ITPR3-related combined immunodeficiency-ectodermal dysplasia syndrome
cs	ITPR3-related combined immunodeficiency-ectodermal dysplasia syndrome

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	621254	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 (2):

ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases
ORPHA:331217Syndrome with combined immunodeficiency
rare genetic diseases; rare immunological diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
ITPR3	Disease-causing germline mutation(s) in	Assessed	HGNC:6182			6p21.31	inositol 1,4,5-trisphosphate receptor type 3	36302985[PMID]_39270020[PMID]_39560673[PMID]

0 records

No prevalence record in this release.

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