ORPHA:537072

PLG-related hereditary angioedema with normal C1Inh

Synonyms: PLG-related HAE with normal C1 inhibitor

Orphadata ships no English definition for this code.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	PLG-related hereditary angioedema with normal C1Inh	PLG-related HAE with normal C1 inhibitor
fr	Angio-oedème héréditaire avec C1Inh normal lié à PLG	Angio-oedème héréditaire avec inhibiteur de C1 normal lié à PLG · HAE avec C1Inh normal lié à PLG
de	PLG-assoziiertes hereditäres Angioödem mit normalem C1-INH	PLG-abhängiges HAE mit normalem C1-Inhibitor
es	Angioedema hereditario con C1Inh normal asociado al gen PLG	AEH con inhibidor C1 normal asociado a PGL · AEH con inhibidor C1 normal asociado al gen PGL
it	Angioedema ereditario correlato a PLG con C1Inh normale
nl	PLG-gerelateerd erfelijk angio-oedeem met normale C1Inh	PLG-gerelateerd HAE met normale C1-inhibitor
pt	Angioedema hereditário PLG-relacionado com C1Inh normal
pl	Dziedziczny obrzęk naczynioruchowy związany z PLG z prawidłowym C1Inh	= en
cs	PLG-vázaný hereditání angioedém s normální funkcí C1Inh	PLG-vázaný HAE s normální funkcí inhibitoru C1
uk	Спадковий ангіоневротичний набряк, повязаний з PLG, з нормальним C1Inh	HAE, повязана з ПЛГ, з нормальним інгібітором С1
zh	PLG基因相关的遗传性血管性水肿伴C1Inh正常	PLG基因相关的遗传性血管性水肿伴C1抑制剂正常
tr	Normal C1Inh ile seyreden PLG-ilişkili kalıtsal anjiyoödem	Normal C1 inhibitör ile seyreden PLG-ilişkili HAE

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	619360	E		validated
ICD-10	T78.3	NTBT	attributed	validated
ICD-11	4A00.14	NTBT	attributed	validated
MONDO	0035220	E		validated
UMLS	C5680155	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
PLG	Disease-causing germline mutation(s) in	Assessed	HGNC:9071	ENSG00000122194	173350	6q26	plasminogen	28795768[PMID]

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		105 cases	Worldwide	Case(s)	Validated	30809376[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET_30809376[PMID]

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.