MCID: ANG045
MIFTS: 25

Angioedema, Hereditary, Type Iii

Categories: Genetic diseases, Bone diseases, Immune 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 57 13 40
Hae with Normal C1 Inhibitor Concentration and Function 57 75
Hereditary Angioedema with Normal C1 Inhibitor Activity 57 75
Hereditary Angioedema Type Iii 44 73
Estrogen-Sensitive Hae 57 75
Estrogen-Related Hae 57 75
Hae3 57 75
Angioneurotic Edema, Hereditary, with Normal C1 Inhibitor Concentration and Function 57
Angioneurotic Edema Hereditary with Normal C1 Inhibitor Concentration and Function 75
Hereditary Angioedema with Normal C1 Esterase Inhibitor Activity 73
Inherited Estrogen-Associated Angioneurotic Edema 59
Inherited Estrogen-Dependent Angioneurotic Edema 59
Inherited Estrogen-Associated Angioedema 59
Inherited Estrogen-Dependent Angioedema 59
Hereditary Angioneurotic Edema Type 3 59
Hereditary Angioedema Type 3 59
Hereditary Angioedema 3 75
Hae Iii 57
Hae-Iii 59
Hae 3 59

Characteristics:

Orphanet epidemiological data:

59
hereditary angioedema type 3
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
angioedema, hereditary, type iii:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 610618
Orphanet 59 ORPHA100054
UMLS via Orphanet 74 C1857728 C1960459
MESH via Orphanet 45 D056828
ICD10 via Orphanet 34 D84.1
MedGen 42 C1857728
MeSH 44 D056828

Summaries for Angioedema, Hereditary, Type Iii

UniProtKB/Swiss-Prot : 75 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 facial edema and vomiting

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)

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 10.1
2 angioedema 10.1
3 thrombophilia due to thrombin defect 9.9
4 thrombosis 9.9

Symptoms & Phenotypes for Angioedema, Hereditary, Type Iii

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
facial swelling, episodic

Respiratory Larynx:
laryngeal swelling, episodic
throat swelling, episodic

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

Respiratory:
respiratory compromise due to swelling, episodic

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


Clinical features from OMIM:

610618

Human phenotypes related to Angioedema, Hereditary, Type Iii:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 facial edema 32 HP:0000282
2 vomiting 32 HP:0002013
3 episodic abdominal pain 32 HP:0002574
4 intestinal edema 32 HP:0005225
5 pharyngeal edema 32 HP:0011855
6 episodic upper airway obstruction 32 HP:0012271
7 angioedema 32 HP:0100665

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:

41
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

Variations for Angioedema, Hereditary, Type Iii

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

75
# 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_911dup18 (p.Thr305_Pro306insGlnAlaAlaProProThr) duplication Pathogenic rs774034606 GRCh37 Chromosome 5, 176831304: 176831321
6 F12 NM_000505.3(F12): c.894_911dup18 (p.Thr305_Pro306insGlnAlaAlaProProThr) duplication Pathogenic rs774034606 GRCh38 Chromosome 5, 177404303: 177404320
7 F12 NM_000505.3(F12): c.971_1018+24del deletion Pathogenic GRCh37 Chromosome 5, 176831173: 176831244
8 F12 NM_000505.3(F12): c.971_1018+24del deletion Pathogenic 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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