HAE3
MCID: ANG045
MIFTS: 31

Angioedema, Hereditary, Type Iii (HAE3)

Categories: Bone diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Oral diseases, Rare diseases, Skin diseases

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:

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
UMLS 71 C1857728 C1960459

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)

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 Top Affiliating Genes
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:



Diseases related to Angioedema, Hereditary, Type Iii

Symptoms & Phenotypes for Angioedema, Hereditary, Type Iii

Human phenotypes related to Angioedema, Hereditary, Type Iii:

31 (show all 7)
# Description HPO Frequency 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

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

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

Anatomical Context for Angioedema, Hereditary, Type Iii

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

40
Skin, Bone

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
19178938 2009
2
Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III. 6 56
17186468 2006
3
Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor. 6 56
16638441 2006
4
Clinical, biochemical, and genetic characterization of a novel estrogen-dependent inherited form of angioedema. 56 6
10984376 2000
5
Hereditary angioedema with normal C1-inhibitor activity in women. 56 61
10963200 2000
6
Hereditary angioedema and normal C1-inhibitor activity in women. 56
11052609 2000
7
[Recurrent attacks of angioedema ascribed to the use of estrogen preparations and a pregnancy (hereditary angioedema type 3)]. 61
12224485 2002

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+24deldeletion 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>GSNV Conflicting interpretations of pathogenicity 904431 5:176830478-176830478 5:177403477-177403477
7 F12 NM_000505.4(F12):c.1251-9C>ASNV 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>TSNV Conflicting interpretations of pathogenicity 904493 5:176831186-176831186 5:177404185-177404185
12 F12 NM_000505.3(F12):c.1018+12G>CSNV 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>CSNV 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>ASNV 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>ASNV 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>GSNV Uncertain significance 907867 5:176832730-176832730 5:177405729-177405729
23 F12 NM_000505.3(F12):c.-25G>ASNV 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>TSNV Uncertain significance 907757 5:176829207-176829207 5:177402206-177402206
27 F12 NM_000505.4(F12):c.*9G>ASNV Uncertain significance 904429 5:176829284-176829284 5:177402283-177402283
28 F12 NM_000505.4(F12):c.1018+14G>TSNV 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>TSNV Likely benign 352989 rs375340260 5:176830625-176830625 5:177403624-177403624
32 F12 NM_000505.3(F12):c.-8C>TSNV 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>TSNV 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>CSNV Benign 1167 rs1801020 5:176836532-176836532 5:177409531-177409531
41 F12 , SLC34A1 NM_000505.4(F12):c.1251-9C>TSNV 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

Expression for Angioedema, Hereditary, Type Iii

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

Pathways for Angioedema, Hereditary, Type Iii

GO Terms for Angioedema, Hereditary, Type Iii

Sources for Angioedema, Hereditary, Type Iii

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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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