Angioedema, Hereditary, Type Iii disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

HAE3 MCID: ANG045 MIFTS: 30	Angioedema, Hereditary, Type Iii (HAE3) Categories: Bone diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Oral diseases, Rare diseases, Respiratory diseases, Skin diseases
Genes Variations Related diseases Publications Symptoms & Phenotypes Expand all tables

Sources

Aliases & Classifications for Angioedema, Hereditary, Type Iii

MalaCards integrated aliases for Angioedema, Hereditary, Type Iii:

Name: Angioedema, Hereditary, Type Iii ⁵⁷ ¹³ ³⁹

Hereditary Angioedema Type 3 ⁵⁸ ²⁹ ⁶

Angioneurotic Edema, Hereditary, with Normal C1 Inhibitor Concentration and Function ⁵⁷ ⁶

Hae with Normal C1 Inhibitor Concentration and Function ⁵⁷ ⁷³

Hereditary Angioedema with Normal C1 Inhibitor Activity ⁵⁷ ⁷³

Hereditary Angioedema Type Iii ⁴⁴ ⁷¹

Estrogen-Sensitive Hae ⁵⁷ ⁷³

Estrogen-Related Hae ⁵⁷ ⁷³

Hae3 ⁵⁷ ⁷³

Angioneurotic Edema Hereditary with Normal C1 Inhibitor Concentration and Function ⁷³

Hereditary Angioedema with Normal C1 Esterase Inhibitor Activity ⁷¹

F12-Related Hereditary Angioedema with Normal C1inh ⁵⁸

Inherited Estrogen-Associated Angioneurotic Edema ⁵⁸

Inherited Estrogen-Dependent Angioneurotic Edema ⁵⁸

F12-Related Hae with Normal C1 Inhibitor ⁵⁸

Inherited Estrogen-Associated Angioedema ⁵⁸

Inherited Estrogen-Dependent Angioedema ⁵⁸

Hereditary Angioneurotic Edema Type 3 ⁵⁸

Hereditary Angioedema 3 ⁷³

Hae Iii ⁵⁷

Hae-Iii ⁵⁸

Hae 3 ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

f12-related hereditary angioedema with normal c1inh
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal dominant

Miscellaneous:
occurs in women and is triggered by pregnancy or estrogen therapy

HPO:

³¹

angioedema, hereditary, type iii:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Bone diseases Immune diseases Skin diseases Oral diseases Gastrointestinal diseases Respiratory diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Certain disorders involving the immune mechanism

Other immunodeficiencies

Defects in the complement system

Orphanet: ⁵⁸

Rare systemic and rhumatological diseases

Rare allergic disease

External Ids:

OMIM® ⁵⁷ 610618

MeSH ⁴⁴ D056828

MESH via Orphanet ⁴⁵ D056828

ICD10 via Orphanet ³³ D84.1

UMLS via Orphanet ⁷² C1857728 C1960459

Orphanet ⁵⁸ ORPHA100054

MedGen ⁴¹ C1857728

SNOMED-CT via HPO ⁶⁸ 2129002 249497008 263681008 more

UMLS ⁷¹ C1857728 C1960459

Sources

Summaries for Angioedema, Hereditary, Type Iii

UniProtKB/Swiss-Prot : ⁷³ Hereditary angioedema 3: A hereditary angioedema occurring only in women. Hereditary angioedema is an autosomal dominant disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. Hereditary angioedema type 3 differs from types 1 and 2 in that both concentration and function of C1 esterase inhibitor are normal. Hereditary angioedema type 3 is precipitated or worsened by high estrogen levels (e.g., during pregnancy or treatment with oral contraceptives).

MalaCards based summary : Angioedema, Hereditary, Type Iii, also known as hereditary angioedema type 3, is related to hereditary angioedema and angioedema. An important gene associated with Angioedema, Hereditary, Type Iii is F12 (Coagulation Factor XII). Related phenotypes are vomiting and angioedema

OMIM® : ⁵⁷ Hereditary angioedema type III is a rare disorder characterized clinically by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction. HAE III occurs almost exclusively in women and is often precipitated or worsened by high estrogen levels (e.g., during pregnancy or treatment with oral contraceptives). It differs from HAE types I and II (106100) in that both concentration and function of C1 inhibitor (C1NH; 606860) are normal (summary by Dewald and Bork, 2006). (610618) (Updated 05-Mar-2021)

Sources

Related Diseases for Angioedema, Hereditary, Type Iii

Diseases in the Angioedema family:

Angioedema, Hereditary, Type I	Angioedema, Hereditary, Type Iii
Hereditary Angioedema	Acquired Angioedema
Acquired Angioedema Type 1	Acquired Angioedema Type 2

Diseases related to Angioedema, Hereditary, Type Iii via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	hereditary angioedema	10.4
2	angioedema	10.4
3	complement component 4, partial deficiency of	10.3
4	c1 inhibitor deficiency	10.3
5	urticaria	10.3
6	thrombosis	10.0
7	acute pancreatitis	10.0
8	pancreatitis	10.0

Graphical network of the top 20 diseases related to Angioedema, Hereditary, Type Iii:

Sources

Symptoms & Phenotypes for Angioedema, Hereditary, Type Iii

Human phenotypes related to Angioedema, Hereditary, Type Iii:

³¹ (show all 7)

#	Description	HPO Source Accession
1	vomiting ³¹	HP:0002013
2	angioedema ³¹	HP:0100665
3	facial edema ³¹	HP:0000282
4	intestinal edema ³¹	HP:0005225
5	episodic abdominal pain ³¹	HP:0002574
6	pharyngeal edema ³¹	HP:0011855
7	episodic upper airway obstruction ³¹	HP:0012271

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Abdomen Gastrointestinal:
vomiting, episodic
intestinal edema, episodic
abdominal pain, episodic

Respiratory:
respiratory compromise due to swelling, episodic

Muscle Soft Tissue:
episodic, nonerythematous, nonpruritic, nontender edema, episodic
swelling of the hands and feet, episodic

Head And Neck Face:
facial swelling, episodic

Respiratory Larynx:
laryngeal swelling, episodic
throat swelling, episodic

Clinical features from OMIM®:

610618 (Updated 05-Mar-2021)

Sources

Drugs & Therapeutics for Angioedema, Hereditary, Type Iii

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Biomarker for Hereditary AngioEdema Disease: An International, Multicenter, Longitudinal Monitoring Protocol	Recruiting	NCT03029728

Search NIH Clinical Center for Angioedema, Hereditary, Type Iii

Cochrane evidence based reviews: hereditary angioedema type iii

Sources

Genetic Tests for Angioedema, Hereditary, Type Iii

Genetic tests related to Angioedema, Hereditary, Type Iii:

#	Genetic test	Affiliating Genes
1	Hereditary Angioedema Type 3 ²⁹	F12

Sources

Anatomical Context for Angioedema, Hereditary, Type Iii

Sources

Publications for Angioedema, Hereditary, Type Iii

Articles related to Angioedema, Hereditary, Type Iii:

#	Title	Authors	PMID	Year
1	Genetic analysis of Factor XII and bradykinin catabolic enzymes in a family with estrogen-dependent inherited angioedema. ⁶ ⁵⁷	Duan QL...Rouleau GA	19178938	2009
2	Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III. ⁶ ⁵⁷	Cichon S...Nothen MM	17186468	2006
3	Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor. ⁶ ⁵⁷	Dewald G...Bork K	16638441	2006
4	Clinical, biochemical, and genetic characterization of a novel estrogen-dependent inherited form of angioedema. ⁶ ⁵⁷	Binkley KE...Davis A	10984376	2000
5	Hereditary angioedema with normal C1-inhibitor activity in women. ⁶¹ ⁵⁷	Bork K...Traupe H	10963200	2000
6	Hereditary angioedema and normal C1-inhibitor activity in women. ⁵⁷	Kranke B...Aberer W	11052609	2000
7	[Recurrent attacks of angioedema ascribed to the use of estrogen preparations and a pregnancy (hereditary angioedema type 3)]. ⁶¹	van der Klooster JM...Zweers PG	12224485	2002

Sources

Genes for Angioedema, Hereditary, Type Iii

Genes related to Angioedema, Hereditary, Type Iii (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	F12	Coagulation Factor XII	Protein Coding	1650	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (gain of function) ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹	16638441 17186468 10984376 (more) 19178938

Sources

Variations for Angioedema, Hereditary, Type Iii

ClinVar genetic disease variations for Angioedema, Hereditary, Type Iii:

⁶ (show top 50) (show all 71)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	F12	NM_000505.3(F12):c.894_911dup (p.Gln300_Thr305dup)	Duplication	Pathogenic	403709	rs774034606	5:176831303-176831304	5:177404302-177404303
2	F12	NM_000505.3(F12):c.971_1018+24del	Deletion	Pathogenic	441533	rs1554097246	5:176831173-176831244	5:177404172-177404243
3	F12	NM_000505.3(F12):c.983C>G (p.Thr328Arg)	SNV	Pathogenic	1170	rs118204456	5:176831232-176831232	5:177404231-177404231
4	F12	NM_000505.4(F12):c.983C>A (p.Thr328Lys)	SNV	Pathogenic	1169	rs118204456	5:176831232-176831232	5:177404231-177404231
5	F12	NM_000505.4(F12):c.983C>A (p.Thr328Lys)	SNV	Pathogenic	1169	rs118204456	5:176831232-176831232	5:177404231-177404231
6	F12	NM_000505.4(F12):c.1530G>C (p.Glu510Asp)	SNV	Uncertain significance	983440		5:176830256-176830256	5:177403255-177403255
7	F12	NM_000505.4(F12):c.1768T>G (p.Cys590Gly)	SNV	Uncertain significance	983441		5:176829373-176829373	5:177402372-177402372
8	F12	NM_000505.4(F12):c.286+6A>G	SNV	Uncertain significance	907867		5:176832730-176832730	5:177405729-177405729
9	F12	NM_000505.4(F12):c.1599A>G (p.Ser533=)	SNV	Uncertain significance	983443		5:176829632-176829632	5:177402631-177402631
10	F12	NM_000505.3(F12):c.158A>G (p.Tyr53Cys)	SNV	Uncertain significance	1168	rs118204455	5:176833020-176833020	5:177406019-177406019
11	F12	NM_000505.4(F12):c.*9G>A	SNV	Uncertain significance	904429		5:176829284-176829284	5:177402283-177402283
12	F12	NM_000505.3(F12):c.630C>T (p.Asp210=)	SNV	Uncertain significance	353000	rs886060471	5:176831815-176831815	5:177404814-177404814
13	F12	NM_000505.3(F12):c.-25G>A	SNV	Uncertain significance	353006	rs886060472	5:176836553-176836553	5:177409552-177409552
14	F12	NM_000505.3(F12):c.1212C>G (p.Pro404=)	SNV	Uncertain significance	352991	rs756802257	5:176830898-176830898	5:177403897-177403897
15	F12	NM_000505.3(F12):c.1251-12C>A	SNV	Uncertain significance	352990	rs747726864	5:176830630-176830630	5:177403629-177403629
16	F12	NM_000505.3(F12):c.928A>T (p.Arg310Trp)	SNV	Uncertain significance	352997	rs749549919	5:176831287-176831287	5:177404286-177404286
17	F12	NM_000505.4(F12):c.957G>C (p.Gln319His)	SNV	Uncertain significance	904494		5:176831258-176831258	5:177404257-177404257
18	F12	NM_000505.4(F12):c.30G>A (p.Leu10=)	SNV	Uncertain significance	904552		5:176836499-176836499	5:177409498-177409498
19	F12	NM_000505.4(F12):c.1142G>A (p.Arg381His)	SNV	Uncertain significance	906814		5:176830968-176830968	5:177403967-177403967
20	F12	NM_000505.4(F12):c.*86C>T	SNV	Uncertain significance	907757		5:176829207-176829207	5:177402206-177402206
21	F12	NM_000505.4(F12):c.1018+14G>T	SNV	Uncertain significance	907810		5:176831183-176831183	5:177404182-177404182
22	ANGPT1	NM_001146.5(ANGPT1):c.1110G>C (p.Gln370His)	SNV	Uncertain significance	979220		8:108297005-108297005	8:107284777-107284777
23	ANGPT1	NM_001146.5(ANGPT1):c.1151G>A (p.Arg384Gln)	SNV	Uncertain significance	778400	rs146465357	8:108296964-108296964	8:107284736-107284736
24	F12	NM_000505.4(F12):c.293G>A (p.Cys98Tyr)	SNV	Likely benign	907866		5:176832428-176832428	5:177405427-177405427
25	F12	NM_000505.4(F12):c.129C>T (p.Thr43=)	SNV	Likely benign	904550		5:176833049-176833049	5:177406048-177406048
26	F12	NM_000505.3(F12):c.-8C>T	SNV	Likely benign	353005	rs369991760	5:176836536-176836536	5:177409535-177409535
27	F12	NM_000505.3(F12):c.-3G>A	SNV	Likely benign	353004	rs201346142	5:176836531-176836531	5:177409530-177409530
28	F12	NM_000505.4(F12):c.1387+4C>G	SNV	Likely benign	904431		5:176830478-176830478	5:177403477-177403477
29	F12	NM_000505.3(F12):c.1272G>C (p.Thr424=)	SNV	Likely benign	352988	rs61737766	5:176830597-176830597	5:177403596-177403596
30	F12	NM_000505.3(F12):c.1251-7C>T	SNV	Likely benign	352989	rs375340260	5:176830625-176830625	5:177403624-177403624
31	F12	NM_000505.4(F12):c.41T>C (p.Leu14Ser)	SNV	Likely benign	983442		5:176836488-176836488	5:177409487-177409487
32	F12	NM_000505.3(F12):c.1025C>T (p.Pro342Leu)	SNV	Benign/Likely benign	352993	rs2230939	5:176831085-176831085	5:177404084-177404084
33	F12	NM_000505.3(F12):c.1107G>C (p.Ser369=)	SNV	Benign	352992	rs141473119	5:176831003-176831003	5:177404002-177404002
34	F12	NM_000505.4(F12):c.530C>T (p.Ala177Val)	SNV	Benign	983439		5:176831915-176831915	5:177404914-177404914
35	F12	NM_000505.4(F12):c.1251-9C>T	SNV	Benign	256309	rs17876032	5:176830627-176830627	5:177403626-177403626
36	F12	NM_000505.3(F12):c.1342C>T (p.Arg448Cys)	SNV	Benign	352986	rs115119084	5:176830527-176830527	5:177403526-177403526
37	F12	NM_000505.3(F12):c.1299C>T (p.Asn433=)	SNV	Benign	352987	rs17876033	5:176830570-176830570	5:177403569-177403569
38	F12	NM_000505.4(F12):c.1018+11G>T	SNV	Benign	904493		5:176831186-176831186	5:177404185-177404185
39	F12	NM_000505.3(F12):c.1018+13G>C	SNV	Benign	352994	rs552424629	5:176831184-176831184	5:177404183-177404183
40	F12	NM_000505.4(F12):c.1704G>A (p.Val568=)	SNV	Benign	904430		5:176829437-176829437	5:177402436-177402436
41	F12	NM_000505.3(F12):c.398-12C>T	SNV	Benign	353002	rs56285942	5:176832198-176832198	5:177405197-177405197
42	F12	NM_000505.3(F12):c.348C>A (p.Gly116=)	SNV	Benign	353003	rs140243617	5:176832373-176832373	5:177405372-177405372
43	F12	NM_000505.3(F12):c.1018+12G>C	SNV	Benign	352995	rs758462343	5:176831185-176831185	5:177404184-177404184
44	F12	NM_000505.4(F12):c.120C>T (p.Leu40=)	SNV	Benign	904551		5:176833058-176833058	5:177406057-177406057
45	F12	NM_000505.4(F12):c.1251-9C>A	SNV	Benign	905230		5:176830627-176830627	5:177403626-177403626
46	F12	NM_000505.3(F12):c.930G>C (p.Arg310Ser)	SNV	Benign	352996	rs77098327	5:176831285-176831285	5:177404284-177404284
47	F12	NM_000505.4(F12):c.619G>C (p.Ala207Pro)	SNV	Benign	256310	rs17876030	5:176831826-176831826	5:177404825-177404825
48	F12	NM_000505.4(F12):c.-4T>C	SNV	Benign	1167	rs1801020	5:176836532-176836532	5:177409531-177409531
49	F12	NM_000505.3(F12):c.418C>G (p.Leu140Val)	SNV	Benign	353001	rs35515200	5:176832166-176832166	5:177405165-177405165
50	F12	NM_000505.3(F12):c.711C>T (p.Pro237=)	SNV	Benign	352999	rs17876047	5:176831589-176831589	5:177404588-177404588

UniProtKB/Swiss-Prot genetic disease variations for Angioedema, Hereditary, Type Iii:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	F12	p.Thr328Lys	VAR_031501	rs118204456
2	F12	p.Thr328Arg	VAR_031502	rs118204456

Sources

Expression for Angioedema, Hereditary, Type Iii

Search GEO for disease gene expression data for Angioedema, Hereditary, Type Iii.

Sources

Pathways for Angioedema, Hereditary, Type Iii

Sources

GO Terms for Angioedema, Hereditary, Type Iii

Sources

Sources for Angioedema, Hereditary, Type Iii

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Angioedema, Hereditary, Type Iii (HAE3)

Aliases & Classifications for Angioedema, Hereditary, Type Iii

MalaCards integrated aliases for Angioedema, Hereditary, Type Iii:

Characteristics:

Orphanet epidemiological data:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Angioedema, Hereditary, Type Iii

Related Diseases for Angioedema, Hereditary, Type Iii

Diseases in the Angioedema family:

Diseases related to Angioedema, Hereditary, Type Iii via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Angioedema, Hereditary, Type Iii:

Symptoms & Phenotypes for Angioedema, Hereditary, Type Iii

Human phenotypes related to Angioedema, Hereditary, Type Iii:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Angioedema, Hereditary, Type Iii

Interventional clinical trials:

Cochrane evidence based reviews: hereditary angioedema type iii

Genetic Tests for Angioedema, Hereditary, Type Iii

Genetic tests related to Angioedema, Hereditary, Type Iii:

Anatomical Context for Angioedema, Hereditary, Type Iii

Publications for Angioedema, Hereditary, Type Iii

Articles related to Angioedema, Hereditary, Type Iii:

Genes for Angioedema, Hereditary, Type Iii

Genes related to Angioedema, Hereditary, Type Iii (1 elite genes):

Variations for Angioedema, Hereditary, Type Iii

ClinVar genetic disease variations for Angioedema, Hereditary, Type Iii:

UniProtKB/Swiss-Prot genetic disease variations for Angioedema, Hereditary, Type Iii:

Expression for Angioedema, Hereditary, Type Iii

Pathways for Angioedema, Hereditary, Type Iii

GO Terms for Angioedema, Hereditary, Type Iii

Sources for Angioedema, Hereditary, Type Iii