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

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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Bone diseases Immune diseases Skin diseases Oral 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 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)

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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	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

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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

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

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Anatomical Context for Angioedema, Hereditary, Type Iii

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

⁴⁰

Skin, Bone, Breast, Prostate

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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	Duan QL...Rouleau GA	19178938	2009
2	Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III. ⁵⁶ ⁶	Cichon S...Nothen MM	17186468	2006
3	Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor. ⁵⁶ ⁶	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 and normal C1-inhibitor activity in women. ⁵⁶	Kranke B...Aberer W	11052609	2000
6	Hereditary angioedema with normal C1-inhibitor activity in women. ⁵⁶	Bork K...Traupe H	10963200	2000
7	An RND transporter in the monoterpene metabolism of Castellaniella defragrans. ⁶¹	Puentes-Cala E...Harder J	30334144	2019
8	Exploring Glycan Markers for Immunotyping and Precision-targeting of Breast Circulating Tumor Cells. ⁶¹	Wang D...Sambucetti L	26657044	2015
9	Carbohydrate Microarrays Identify Blood Group Precursor Cryptic Epitopes as Potential Immunological Targets of Breast Cancer. ⁶¹	Wang D...Huang J	26539555	2015
10	Frequent expression of human carcinoma-associated antigen, a mucin-type glycoprotein, in cells of prostatic carcinoma. ⁶¹	Li R...Huang J	15578886	2004
11	Overexpression of human carcinoma-associated antigen in esophageal adenocarcinoma and its precursor lesions. ⁶¹	Liang S...Lei JY	15491971	2004
12	Overexpression of human carcinoma-associated antigen in urothelial carcinoma of the bladder. ⁶¹	Yao JL...Huang J	15214822	2004
13	The RND permease superfamily: an ancient, ubiquitous and diverse family that includes human disease and development proteins. ⁶¹	Tseng TT...Saier MH	10941792	1999
14	Comparison of the cytotoxic activity of the immunotoxins with different internalization rate. ⁶¹	Tonevitsky AG...Pfueller U	8193589	1993
15	Cytotoxic effect of ricin A-chain conjugates containing monoclonal antibodies against human erythroid cells. ⁶¹	Tonevitsky AG...Mechetner EB	8468120	1993
16	[Determination of erythroid variants of human leukemias using monoclonal antibodies]. ⁶¹	Tupitsyn NN...Rozinova EN	3479320	1987
17	[Human leukemias studied with monoclonal antibodies to erythroid cells]. ⁶¹	Ievleva ES...Rozinova EN	3512238	1986

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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	1550	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative germline mutation (gain of function) ⁵⁸ Causative variation ⁷³	10984376 19178938 16638441 (more) 17186468

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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+24del	deletion	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

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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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⁷⁴ Wikipedia

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

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