raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:599418

Hereditary angioedema with normal C1Inh not related to F12 or PLG variant

Type
Clinical subtype
Group
Subtype of disorder
Inheritance
Autosomal dominant
Status
active

Orphadata ships no English definition for this code.

1

Names in Orphadata languages

12 of 12 languages
LangNameSynonyms
enHereditary angioedema with normal C1Inh not related to F12 or PLG variant
frAngio-oedème héréditaire avec C1Inh normal non associé à F12 ni PLG
deAngioödem, hereditäres, mit normalen C1-INH, nicht assoziiert mit F12- oder PLG-Variante
esAngioedema hereditario con C1Inh normal no asociado a variantes en los genes F12 o PLG
itAngioedema ereditario con C1Inh normale non correlato a varianti in F12 o PLG
nlHereditair angio-oedeem met normale C1Inh niet gerelateerd aan F12- of PLG-variant
ptAngioedema hereditário com C1Inh normal não relacionado com F12 ou PLG
plDziedziczny obrzęk naczynioruchowy z prawidłowym C1Inh niezwiązany z wariantem F12 lub PLG
csDědičný angioedém s normálním C1Inh nesouvisející s variantou F12 nebo PLG
ukСпадковий ангіоневротичний набряк з нормальним C1Inh, не повязаний з варіантом F12 або PLG
zhHereditary angioedema with normal C1Inh not related to F12 or PLG variant
trHereditary angioedema with normal C1Inh not related to F12 or PLG variant
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
OMIM619367BTNTvalidated
ICD-10T78.3NTBTattributedvalidated
ICD-114A00.14NTBTattributedvalidated
MONDO0035734Evalidated
UMLSC5681601Evalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

No children.

Codes that Orphanet moved or referred to this one:

4

Genes

4 direct
GeneAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
ANGPT1Disease-causing germline mutation(s) inAssessedHGNC:484ENSG000001541886016678q23.1angiopoietin 128601681[PMID]
HS3ST6Disease-causing germline mutation(s) inAssessedHGNC:14178ENSG0000016204061921016p13.3heparan sulfate-glucosamine 3-sulfotransferase 633799813[PMID]
KNG1Disease-causing germline mutation(s) inAssessedHGNC:6383ENSG000001138896123583q27.3kininogen 133059692[PMID]
MYOFDisease-causing germline mutation(s) inAssessedHGNC:3656ENSG0000013811960460310q23.33myoferlin33508266[PMID]
5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

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

7

Sources for this card