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

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Aliases & Classifications for Angioedema, Hereditary, Type Iii

MalaCards integrated aliases for Angioedema, Hereditary, Type Iii:

Name: Angioedema, Hereditary, Type Iii ⁵⁶ ¹³ ³⁹

Hereditary Angioedema Type 3 ⁵⁸ ²⁹ ⁶

Hae with Normal C1 Inhibitor Concentration and Function ⁵⁶ ⁷³

Hereditary Angioedema with Normal C1 Inhibitor Activity ⁵⁶ ⁷³

Hereditary Angioedema Type Iii ⁴³ ⁷¹

Estrogen-Sensitive Hae ⁵⁶ ⁷³

Estrogen-Related Hae ⁵⁶ ⁷³

Hae3 ⁵⁶ ⁷³

Angioneurotic Edema, Hereditary, with Normal C1 Inhibitor Concentration and Function ⁵⁶

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 ⁵⁶

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:

⁵⁶

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 Oral diseases Skin diseases Gastrointestinal 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 ⁵⁶ 610618

MeSH ⁴³ D056828

MESH via Orphanet ⁴⁴ 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

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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). Affiliated tissues include skin and bone, and related phenotypes are vomiting and angioedema

OMIM : ⁵⁶ 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)

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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	10.2
2	angioedema	10.2
3	thrombophilia due to thrombin defect	10.1
4	thrombosis	10.1
5	acute pancreatitis	10.1

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

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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:

⁵⁶

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

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Drugs & Therapeutics for Angioedema, Hereditary, Type Iii

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Clinical Characteristics and Prognostic Factors of Mitochondrial nt3243 A>G Mutation in Taiwan	Unknown status	NCT02114554
2	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

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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

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Anatomical Context for Angioedema, Hereditary, Type Iii

MalaCards organs/tissues related to Angioedema, Hereditary, Type Iii:

⁴⁰

Skin, Bone

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. ⁵⁶ ⁶	Duan QL...Rouleau GA	19178938	2009
2	Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III. ⁶ ⁵⁶	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 ⁵⁶	Dewald G...Bork K	16638441	2006
4	Clinical, biochemical, and genetic characterization of a novel estrogen-dependent inherited form of angioedema. ⁵⁶ ⁶	Binkley KE...Davis A	10984376	2000
5	Hereditary angioedema with normal C1-inhibitor activity in women. ⁵⁶ ⁶¹	Bork K...Traupe H	10963200	2000
6	Hereditary angioedema and normal C1-inhibitor activity in women. ⁵⁶	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

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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	PubmedIds
1	F12	Coagulation Factor XII	Protein Coding	1650	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation (gain of function) ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁹	17186468 10984376 16638441 (more) 19178938

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Variations for Angioedema, Hereditary, Type Iii

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

⁶ (show all 43) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	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_000505.4(F12):c.983C>A (p.Thr328Lys)	SNV	Pathogenic	1169	rs118204456	5:176831232-176831232	5:177404231-177404231
4	F12	NM_000505.3(F12):c.983C>G (p.Thr328Arg)	SNV	Pathogenic	1170	rs118204456	5:176831232-176831232	5:177404231-177404231
5	F12	NM_000505.4(F12):c.1704G>A (p.Val568=)	SNV	Conflicting interpretations of pathogenicity	904430		5:176829437-176829437	5:177402436-177402436
6	F12	NM_000505.4(F12):c.1387+4C>G	SNV	Conflicting interpretations of pathogenicity	904431		5:176830478-176830478	5:177403477-177403477
7	F12	NM_000505.4(F12):c.1251-9C>A	SNV	Conflicting interpretations of pathogenicity	905230		5:176830627-176830627	5:177403626-177403626
8	F12	NM_000505.4(F12):c.293G>A (p.Cys98Tyr)	SNV	Conflicting interpretations of pathogenicity	907866		5:176832428-176832428	5:177405427-177405427
9	F12	NM_000505.4(F12):c.129C>T (p.Thr43=)	SNV	Conflicting interpretations of pathogenicity	904550		5:176833049-176833049	5:177406048-177406048
10	F12	NM_000505.4(F12):c.120C>T (p.Leu40=)	SNV	Conflicting interpretations of pathogenicity	904551		5:176833058-176833058	5:177406057-177406057
11	F12	NM_000505.4(F12):c.1018+11G>T	SNV	Conflicting interpretations of pathogenicity	904493		5:176831186-176831186	5:177404185-177404185
12	F12	NM_000505.3(F12):c.1018+12G>C	SNV	Conflicting interpretations of pathogenicity	352995	rs758462343	5:176831185-176831185	5:177404184-177404184
13	F12	NM_000505.3(F12):c.1025C>T (p.Pro342Leu)	SNV	Conflicting interpretations of pathogenicity	352993	rs2230939	5:176831085-176831085	5:177404084-177404084
14	F12	NM_000505.3(F12):c.1018+13G>C	SNV	Conflicting interpretations of pathogenicity	352994	rs552424629	5:176831184-176831184	5:177404183-177404183
15	F12	NM_000505.3(F12):c.348C>A (p.Gly116=)	SNV	Conflicting interpretations of pathogenicity	353003	rs140243617	5:176832373-176832373	5:177405372-177405372
16	F12	NM_000505.3(F12):c.-3G>A	SNV	Conflicting interpretations of pathogenicity	353004	rs201346142	5:176836531-176836531	5:177409530-177409530
17	F12	NM_000505.3(F12):c.1107G>C (p.Ser369=)	SNV	Conflicting interpretations of pathogenicity	352992	rs141473119	5:176831003-176831003	5:177404002-177404002
18	F12	NM_000505.3(F12):c.1251-12C>A	SNV	Uncertain significance	352990	rs747726864	5:176830630-176830630	5:177403629-177403629
19	F12	NM_000505.3(F12):c.1212C>G (p.Pro404=)	SNV	Uncertain significance	352991	rs756802257	5:176830898-176830898	5:177403897-177403897
20	F12	NM_000505.3(F12):c.928A>T (p.Arg310Trp)	SNV	Uncertain significance	352997	rs749549919	5:176831287-176831287	5:177404286-177404286
21	F12	NM_000505.3(F12):c.630C>T (p.Asp210=)	SNV	Uncertain significance	353000	rs886060471	5:176831815-176831815	5:177404814-177404814
22	F12	NM_000505.4(F12):c.286+6A>G	SNV	Uncertain significance	907867		5:176832730-176832730	5:177405729-177405729
23	F12	NM_000505.3(F12):c.-25G>A	SNV	Uncertain significance	353006	rs886060472	5:176836553-176836553	5:177409552-177409552
24	F12	NM_000505.3(F12):c.158A>G (p.Tyr53Cys)	SNV	Uncertain significance	1168	rs118204455	5:176833020-176833020	5:177406019-177406019
25	F12	NM_000505.4(F12):c.30G>A (p.Leu10=)	SNV	Uncertain significance	904552		5:176836499-176836499	5:177409498-177409498
26	F12	NM_000505.4(F12):c.*86C>T	SNV	Uncertain significance	907757		5:176829207-176829207	5:177402206-177402206
27	F12	NM_000505.4(F12):c.*9G>A	SNV	Uncertain significance	904429		5:176829284-176829284	5:177402283-177402283
28	F12	NM_000505.4(F12):c.1018+14G>T	SNV	Uncertain significance	907810		5:176831183-176831183	5:177404182-177404182
29	F12	NM_000505.4(F12):c.1142G>A (p.Arg381His)	SNV	Uncertain significance	906814		5:176830968-176830968	5:177403967-177403967
30	F12	NM_000505.4(F12):c.957G>C (p.Gln319His)	SNV	Uncertain significance	904494		5:176831258-176831258	5:177404257-177404257
31	F12 , SLC34A1	NM_000505.3(F12):c.1251-7C>T	SNV	Likely benign	352989	rs375340260	5:176830625-176830625	5:177403624-177403624
32	F12	NM_000505.3(F12):c.-8C>T	SNV	Likely benign	353005	rs369991760	5:176836536-176836536	5:177409535-177409535
33	F12	NM_000505.3(F12):c.930G>C (p.Arg310Ser)	SNV	Benign/Likely benign	352996	rs77098327	5:176831285-176831285	5:177404284-177404284
34	F12 , SLC34A1	NM_000505.3(F12):c.1299C>T (p.Asn433=)	SNV	Benign/Likely benign	352987	rs17876033	5:176830570-176830570	5:177403569-177403569
35	F12	NM_000505.3(F12):c.398-12C>T	SNV	Benign/Likely benign	353002	rs56285942	5:176832198-176832198	5:177405197-177405197
36	F12	NM_000505.3(F12):c.418C>G (p.Leu140Val)	SNV	Benign/Likely benign	353001	rs35515200	5:176832166-176832166	5:177405165-177405165
37	F12 , SLC34A1	NM_000505.3(F12):c.1342C>T (p.Arg448Cys)	SNV	Benign/Likely benign	352986	rs115119084	5:176830527-176830527	5:177403526-177403526
38	F12 , SLC34A1	NM_000505.3(F12):c.1272G>C (p.Thr424=)	SNV	Benign/Likely benign	352988	rs61737766	5:176830597-176830597	5:177403596-177403596
39	F12	NM_000505.3(F12):c.756C>T (p.Ala252=)	SNV	Benign	352998	rs41309752	5:176831544-176831544	5:177404543-177404543
40	F12	NM_000505.4(F12):c.-4T>C	SNV	Benign	1167	rs1801020	5:176836532-176836532	5:177409531-177409531
41	F12 , SLC34A1	NM_000505.4(F12):c.1251-9C>T	SNV	Benign	256309	rs17876032	5:176830627-176830627	5:177403626-177403626
42	F12	NM_000505.4(F12):c.619G>C (p.Ala207Pro)	SNV	Benign	256310	rs17876030	5:176831826-176831826	5:177404825-177404825
43	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

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Expression for Angioedema, Hereditary, Type Iii

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

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Pathways for Angioedema, Hereditary, Type Iii

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GO Terms for Angioedema, Hereditary, Type Iii

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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

MalaCards organs/tissues related to 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