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 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

F12-Related Hereditary Angioedema with Normal C1inh ⁶⁰

Inherited Estrogen-Associated Angioneurotic Edema ⁶⁰

Inherited Estrogen-Dependent Angioneurotic Edema ⁶⁰

F12-Related Hae with Normal C1 Inhibitor 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

f12-related hereditary angioedema with normal c1inh
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:

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: ³⁵

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: ⁶⁰

Rare systemic and rhumatological diseases

Rare allergic disease

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

SNOMED-CT via HPO ⁷⁰ 2129002 249497008 263681008 more

UMLS ⁷⁴ C1857728 C1960459

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Summaries for Angioedema, Hereditary, Type Iii

UniProtKB/Swiss-Prot : ⁷⁶ 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 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)

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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	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:

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Symptoms & Phenotypes for Angioedema, Hereditary, Type Iii

Human phenotypes related to Angioedema, Hereditary, Type Iii:

³³ (show all 7)

#	Description	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

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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

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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:

⁴²

Skin, Bone

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Publications for Angioedema, Hereditary, Type Iii

Articles related to Angioedema, Hereditary, Type Iii:

#	Title	Authors	Year
1	Genetic analysis of Factor XII and bradykinin catabolic enzymes in a family with estrogen-dependent inherited angioedema. ( 19178938 )	Duan QL...Rouleau GA	2009
2	Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor. ( 16638441 )	Dewald G...Bork K	2006
3	Hereditary angioedema with normal C1 inhibitor activity including hereditary angioedema with coagulation factor XII gene mutations. ( 17085286 )	Bork K	2006
4	Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III. ( 17186468 )	Cichon S...N?then MM	2006
5	Hereditary angioedema with normal C1-inhibitor activity in women. ( 10963200 )	Bork K...Traupe H	2000
6	Clinical, biochemical, and genetic characterization of a novel estrogen-dependent inherited form of angioedema. ( 10984376 )	Binkley KE...Davis A	2000

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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 ⁵⁸ Pathogenic ⁶ Causative germline mutation (gain of function) ⁶⁰ Causative variation ⁷⁶	16638441 17186468 10984376 (more) 19178938

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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

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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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⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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

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

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

ClinVar 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