ORPHA:100050

Hereditary angioedema type 1

Synonyms: Hereditary angioneurotic edema type 1 · HAE 1 · HAE-I

A form of hereditary angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Hereditary angioedema type 1	Hereditary angioneurotic edema type 1 · HAE 1 · HAE-I
fr	Angio-oedème héréditaire type I	Angio-oedème bradykinique héréditaire de type I · HAE 1 · HAE-I · Oedème angioneurotique héréditaire type I
de	Angioödem, hereditäres, Typ 1
es	Angioedema hereditario tipo 1
it	Angioedema ereditario, tipo 1	Edema angioneurotico ereditario, tipo 1 · HAE-1
nl	Erfelijk angio-oedeem type 1	Erfelijk angioneurotisch oedeem type 1 · HAE-I · Hereditair angio-oedeem type 1
pt	Angioedema hereditário tipo 1	Angioedema hereditário tipo I
pl	Dziedziczny obrzęk naczynioruchowy typu 1	Dziedziczny obrzęk angioneurotyczny typu 1 · HAE-I
cs	Hereditární angioedém, typ 1	HAE-I · Hereditární angioneurotický edém, typ 1
uk	Спадковий ангіоневротичний набряк, тип 1	САН 1 · САН-I · Спадковий ангіоневротичний набряк типу 1
zh	遗传性血管性水肿1型	遗传性血管神经性水肿1型
tr	Kalıtsal anjiyoödem tip 1	HAE 1 · HAE-I · Kalıtsal anjiyonörotik ödem tip 1

Definition in:

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	106100	E		validated
ICD-10	D84.1	NTBT	attributed	validated
ICD-11	4A00.14	NTBT	index	validated
MONDO	0015053	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
SERPING1	Disease-causing germline mutation(s) in	Assessed	HGNC:1228	ENSG00000149131	606860	11q12.1	serpin family G member 1	24456027[PMID]

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	1-9 / 100 000	1.54 / 100 000	Italy	Value and class	Validated	25758562[PMID]_[EXPERT]
Point prevalence	1-9 / 100 000	—	Europe	Class only	Not yet 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.

26 annotations · validated 2017-07-04

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0002027	Abdominal pain
HP:0012252	Abnormal respiratory system morphology
HP:0001939	Abnormality of metabolism/homeostasis
HP:0011971	Dermatographic urticaria
HP:0007514	Edema of the dorsum of hands
HP:0000282	Facial edema
HP:0005225	Intestinal edema
HP:0012027	Laryngeal edema
HP:0025349	Limbal edema
HP:0003401	Paresthesia
HP:0040315	Tongue edema
HP:0001025	Urticaria
Frequent (79-30%)
HP:0100755	Abnormality of salivation
HP:0002014	Diarrhea
HP:0002015	Dysphagia
HP:0002094	Dyspnea
HP:0002018	Nausea
HP:0002013	Vomiting
Occasional (29-5%)
HP:0005483	Abnormal epiglottis morphology
HP:0100736	Abnormality of the soft palate
HP:0000172	Abnormality of the uvula
HP:0001609	Hoarse voice
HP:0002615	Hypotension
HP:0005348	Inspiratory stridor
HP:0011855	Pharyngeal edema
HP:0002098	Respiratory distress

Annotation source: 26661330[PMID]_22299312[PMID]_23283143[PMID]