HAE3
MCID: ANG045
MIFTS: 29

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
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 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 hae with normal c1 inhibitor concentration and function, 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, bone and breast, and related phenotypes are vomiting and episodic abdominal pain

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 episodic abdominal pain 31 HP:0002574
3 angioedema 31 HP:0100665
4 facial edema 31 HP:0000282
5 intestinal edema 31 HP:0005225
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

Search NIH Clinical Center for Angioedema, Hereditary, Type Iii

Cochrane evidence based reviews: hereditary angioedema type iii

Genetic Tests for Angioedema, Hereditary, Type Iii

Anatomical Context for Angioedema, Hereditary, Type Iii

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

40
Skin, Bone, Breast, Prostate

Publications for Angioedema, Hereditary, Type Iii

Articles related to Angioedema, Hereditary, Type Iii:

(show all 17)
# 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. 56 6
17186468 2006
3
Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor. 56 6
16638441 2006
4
Clinical, biochemical, and genetic characterization of a novel estrogen-dependent inherited form of angioedema. 56 6
10984376 2000
5
Hereditary angioedema and normal C1-inhibitor activity in women. 56
11052609 2000
6
Hereditary angioedema with normal C1-inhibitor activity in women. 56
10963200 2000
7
An RND transporter in the monoterpene metabolism of Castellaniella defragrans. 61
30334144 2019
8
Exploring Glycan Markers for Immunotyping and Precision-targeting of Breast Circulating Tumor Cells. 61
26657044 2015
9
Carbohydrate Microarrays Identify Blood Group Precursor Cryptic Epitopes as Potential Immunological Targets of Breast Cancer. 61
26539555 2015
10
Frequent expression of human carcinoma-associated antigen, a mucin-type glycoprotein, in cells of prostatic carcinoma. 61
15578886 2004
11
Overexpression of human carcinoma-associated antigen in esophageal adenocarcinoma and its precursor lesions. 61
15491971 2004
12
Overexpression of human carcinoma-associated antigen in urothelial carcinoma of the bladder. 61
15214822 2004
13
The RND permease superfamily: an ancient, ubiquitous and diverse family that includes human disease and development proteins. 61
10941792 1999
14
Comparison of the cytotoxic activity of the immunotoxins with different internalization rate. 61
8193589 1993
15
Cytotoxic effect of ricin A-chain conjugates containing monoclonal antibodies against human erythroid cells. 61
8468120 1993
16
[Determination of erythroid variants of human leukemias using monoclonal antibodies]. 61
3479320 1987
17
[Human leukemias studied with monoclonal antibodies to erythroid cells]. 61
3512238 1986

Variations for Angioedema, Hereditary, Type Iii

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

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 F12 NM_000505.3(F12):c.983C>A (p.Thr328Lys)SNV Pathogenic 1169 rs118204456 5:176831232-176831232 5:177404231-177404231
2 F12 NM_000505.3(F12):c.983C>G (p.Thr328Arg)SNV Pathogenic 1170 rs118204456 5:176831232-176831232 5:177404231-177404231
3 F12 NM_000505.3(F12):c.894_911dup (p.Gln300_Thr305dup)duplication Pathogenic 403709 rs774034606 5:176831303-176831304 5:177404302-177404303
4 F12 NM_000505.3(F12):c.971_1018+24deldeletion Pathogenic 441533 rs1554097246 5:176831173-176831244 5:177404172-177404243

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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