HAE3
MCID: ANG045
MIFTS: 27

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 58 13 41
Hae with Normal C1 Inhibitor Concentration and Function 58 76
Hereditary Angioedema with Normal C1 Inhibitor Activity 58 76
Hereditary Angioedema Type Iii 45 74
Estrogen-Sensitive Hae 58 76
Estrogen-Related Hae 58 76
Hae3 58 76
Angioneurotic Edema, Hereditary, with Normal C1 Inhibitor Concentration and Function 58
Angioneurotic Edema Hereditary with Normal C1 Inhibitor Concentration and Function 76
Hereditary Angioedema with Normal C1 Esterase Inhibitor Activity 74
Inherited Estrogen-Associated Angioneurotic Edema 60
Inherited Estrogen-Dependent Angioneurotic Edema 60
Inherited Estrogen-Associated Angioedema 60
Inherited Estrogen-Dependent Angioedema 60
Hereditary Angioneurotic Edema Type 3 60
Hereditary Angioedema Type 3 60
Hereditary Angioedema 3 76
Hae Iii 58
Hae-Iii 60
Hae 3 60

Characteristics:

Orphanet epidemiological data:

60
hereditary angioedema type 3
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
angioedema, hereditary, type iii:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 610618
MeSH 45 D056828
MESH via Orphanet 46 D056828
ICD10 via Orphanet 35 D84.1
UMLS via Orphanet 75 C1857728 C1960459
Orphanet 60 ORPHA100054
MedGen 43 C1857728

Summaries for Angioedema, Hereditary, Type Iii

UniProtKB/Swiss-Prot : 76 Hereditary angioedema 3: An 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 and bone, and related phenotypes are vomiting and episodic abdominal pain

OMIM : 58 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 hereditary angioedema with normal c1inh 10.2
4 thrombophilia due to thrombin defect 10.0
5 thrombosis 10.0

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:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 vomiting 33 HP:0002013
2 episodic abdominal pain 33 HP:0002574
3 angioedema 33 HP:0100665
4 facial edema 33 HP:0000282
5 intestinal edema 33 HP:0005225
6 pharyngeal edema 33 HP:0011855
7 episodic upper airway obstruction 33 HP:0012271

Symptoms via clinical synopsis from OMIM:

58
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

Search Clinical Trials , 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:

42
Skin, Bone

Publications for Angioedema, Hereditary, Type Iii

Articles related to Angioedema, Hereditary, Type Iii:

# Title Authors Year
1
Hereditary angioedema with normal C1 inhibitor activity including hereditary angioedema with coagulation factor XII gene mutations. ( 17085286 )
2006
2
Hereditary angioedema with normal C1-inhibitor activity in women. ( 10963200 )
2000

Variations for Angioedema, Hereditary, Type Iii

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

76
# Symbol AA change Variation ID SNP ID
1 F12 p.Thr328Lys VAR_031501 rs118204456
2 F12 p.Thr328Arg VAR_031502 rs118204456

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 F12 NM_000505.3(F12): c.983C> A (p.Thr328Lys) single nucleotide variant Pathogenic rs118204456 GRCh37 Chromosome 5, 176831232: 176831232
2 F12 NM_000505.3(F12): c.983C> A (p.Thr328Lys) single nucleotide variant Pathogenic rs118204456 GRCh38 Chromosome 5, 177404231: 177404231
3 F12 NM_000505.3(F12): c.983C> G (p.Thr328Arg) single nucleotide variant Pathogenic rs118204456 GRCh37 Chromosome 5, 176831232: 176831232
4 F12 NM_000505.3(F12): c.983C> G (p.Thr328Arg) single nucleotide variant Pathogenic rs118204456 GRCh38 Chromosome 5, 177404231: 177404231
5 F12 NM_000505.3(F12): c.894_911dup (p.Thr305_Pro306insGlnAlaAlaProProThr) duplication Pathogenic rs774034606 GRCh37 Chromosome 5, 176831304: 176831321
6 F12 NM_000505.3(F12): c.894_911dup (p.Thr305_Pro306insGlnAlaAlaProProThr) duplication Pathogenic rs774034606 GRCh38 Chromosome 5, 177404303: 177404320
7 F12 NM_000505.3(F12): c.971_1018+24del deletion Pathogenic rs1554097246 GRCh37 Chromosome 5, 176831173: 176831244
8 F12 NM_000505.3(F12): c.971_1018+24del deletion Pathogenic rs1554097246 GRCh38 Chromosome 5, 177404172: 177404243

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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