HAE3
MCID: ANG071
MIFTS: 47

Angioedema, Hereditary, 3 (HAE3)

Categories: Bone diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Oral diseases, Rare diseases, Respiratory diseases, Skin diseases
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Aliases & Classifications for Angioedema, Hereditary, 3

MalaCards integrated aliases for Angioedema, Hereditary, 3:

Name: Angioedema, Hereditary, 3 57 73
Angioedema, Hereditary, Type Iii 57 73 12 38
Hereditary Angioedema Type Iii 11 14 71
Hereditary Angioedema Type 3 58 28 5
Angioneurotic Edema, Hereditary, with Normal C1 Inhibitor Concentration and Function 57 5
Hae with Normal C1 Inhibitor Concentration and Function 57 73
Hereditary Angioedema with Normal C1 Inhibitor Activity 57 73
Estrogen-Sensitive Hae 57 73
Estrogen-Related Hae 57 73
Hae3 57 73
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
Hae-Iii 58
Hae 3 58

Characteristics:


Inheritance:

Angioedema, Hereditary, 3: Autosomal dominant 57
F12-Related Hereditary Angioedema with Normal C1inh: Autosomal dominant 58

Age Of Onset:

F12-Related Hereditary Angioedema with Normal C1inh: Adult 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
occurs in women and is triggered by pregnancy or estrogen therapy


Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare allergic disease


External Ids:

Disease Ontology 11 DOID:0080940
OMIM® 57 610618
OMIM Phenotypic Series 57 PS106100
MeSH 43 D056828
MESH via Orphanet 44 D056828
ICD10 via Orphanet 32 D84.1
UMLS via Orphanet 72 C1857728 C1960459
Orphanet 58 ORPHA100054
MedGen 40 C1857728
UMLS 71 C1857728 C1960459

Summaries for Angioedema, Hereditary, 3

UniProtKB/Swiss-Prot: 73 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, 3, also known as angioedema, hereditary, type iii, is related to urticaria and angioedema. An important gene associated with Angioedema, Hereditary, 3 is F12 (Coagulation Factor XII), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. Affiliated tissues include skin, bone and liver, and related phenotypes are vomiting and angioedema

OMIM®: 57 Hereditary angioedema-3 (HAE3) is a rare disorder characterized clinically by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction. The disorder occurs almost exclusively in women and is often precipitated or worsened by high estrogen levels (e.g., during pregnancy or treatment with oral contraceptives). Both concentration and function of C1 inhibitor (C1NH; 606860) are normal (summary by Dewald and Bork, 2006). For a discussion of genetic heterogeneity of HAE, see 106100. (610618) (Updated 24-Oct-2022)

Disease Ontology: 11 A hereditary angioedema that is characterized clinically by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction and that has material basis in heterozygous mutation in the gene encoding coagulation factor XII (F12) on chromosome 5q35.

Orphanet: 58 Hereditary angioedema type 3 (HAE 3) is a form of hereditary angioedema (see this term) characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.

Related Diseases for Angioedema, Hereditary, 3

Diseases in the Angioedema family:

Angioedema, Hereditary, 1 Angioedema, Hereditary, 3
Angioedema, Hereditary, 4 Angioedema, Hereditary, 5
Angioedema, Hereditary, 6 Angioedema, Hereditary, 7
Angioedema, Hereditary, 8 Acquired Angioedema
Hereditary Angioedema Acquired Angioedema Type 1
Acquired Angioedema Type 2

Diseases related to Angioedema, Hereditary, 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
# Related Disease Score Top Affiliating Genes
1 urticaria 29.6 SLC34A1 SERPING1 F12 C1S
2 angioedema 29.4 SLC34A1 SERPING1 KNG1 F12 C1S
3 factor xii deficiency 29.3 SLC34A1 KNG1 KLK4 F3 F12
4 c1 inhibitor deficiency 29.1 SERPING1 KNG1 KLK4 F12 C1S
5 hereditary angioedema 29.0 SLC34A1 SERPING1 KNG1 KLK4 F12 C1S
6 angioedema, hereditary, 1 28.8 SLC34A1 SERPING1 KNG1 F12 C1S
7 hereditary angioedema with normal c1inh 10.4
8 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.3
9 49, xxxxy syndrome 10.3
10 49,xxxxx syndrome 10.3
11 49,xyyyy syndrome 10.3
12 shwartzman phenomenon 10.0 F3 F12
13 thrombophilia due to thrombin defect 10.0
14 thrombosis 10.0
15 acute pancreatitis 10.0
16 pancreatitis 10.0
17 allergic urticaria 10.0 SERPING1 KNG1
18 chronic inducible urticaria 10.0 SERPING1 KNG1
19 dermatographia 9.9 SERPING1 KNG1
20 cholinergic urticaria 9.9 SERPING1 KNG1
21 epiglottitis 9.9 SERPING1 KNG1
22 physical urticaria 9.9 SERPING1 KNG1
23 alpha-2-plasmin inhibitor deficiency 9.9 SERPING1 F3
24 pericoronitis 9.9 KNG1 F3
25 chronic spontaneous urticaria 9.9 SERPING1 KNG1
26 cecal disease 9.9 SERPING1 F3
27 akinetopsia 9.9 KNG1 KLK4
28 congenital nonspherocytic hemolytic anemia 9.9 KNG1 KLK4
29 occlusion precerebral artery 9.9 KNG1 F3
30 combined oxidative phosphorylation deficiency 33 9.9 KNG1 KLK4
31 louse-borne relapsing fever 9.9 SERPING1 C1S
32 pyruvate kinase deficiency of red cells 9.9 KNG1 KLK4
33 coronary artery vasospasm 9.8 KNG1 F3
34 vulvar angiokeratoma 9.8 F3 C1S
35 bilirubin metabolic disorder 9.8 SLC34A1 F3 F12
36 renovascular hypertension 9.8 KNG1 KLK4
37 angina pectoris 9.8 KNG1 F3
38 factor xi deficiency 9.7 KNG1 F3 F12
39 renal hypertension 9.7 KNG1 KLK4
40 capillary leak syndrome 9.7 SERPING1 C1S
41 covid-19 9.7 SERPING1 KNG1 F3
42 hemolytic uremic syndrome, atypical 1 9.6 SERPING1 F3 C1S
43 laryngeal small cell carcinoma 9.6 SERPING1 KNG1 C1S
44 complement deficiency 9.6 SERPING1 KNG1 C1S
45 high molecular weight kininogen deficiency 9.5 KNG1 KLK4 F3 F12
46 hemolytic-uremic syndrome 9.5 F3 C1S
47 hypertension, essential 9.3 SLC34A1 KNG1 KLK4 F3 F12
48 acquired angioedema 9.1 SERPING1 KNG1 KLK4 F12 C1S
49 myocardial infarction 9.0 SERPING1 KNG1 F3 C1S

Graphical network of the top 20 diseases related to Angioedema, Hereditary, 3:



Diseases related to Angioedema, Hereditary, 3

Symptoms & Phenotypes for Angioedema, Hereditary, 3

Human phenotypes related to Angioedema, Hereditary, 3:

30 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 vomiting 30 HP:0002013
2 angioedema 30 HP:0100665
3 facial edema 30 HP:0000282
4 episodic abdominal pain 30 HP:0002574
5 intestinal edema 30 HP:0005225
6 pharyngeal edema 30 HP:0011855
7 episodic upper airway obstruction 30 HP:0012271

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Abdomen Gastrointestinal:
abdominal pain, episodic
vomiting, episodic
intestinal edema, 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 (Updated 24-Oct-2022)

Drugs & Therapeutics for Angioedema, Hereditary, 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Biomarker for Hereditary AngioEdema Disease: An International, Multicenter, Longitudinal Monitoring Protocol Completed NCT03029728

Search NIH Clinical Center for Angioedema, Hereditary, 3

Genetic Tests for Angioedema, Hereditary, 3

Genetic tests related to Angioedema, Hereditary, 3:

# Genetic test Affiliating Genes
1 Hereditary Angioedema Type 3 28 F12

Anatomical Context for Angioedema, Hereditary, 3

Organs/tissues related to Angioedema, Hereditary, 3:

MalaCards : Skin, Bone, Liver, Bone Marrow, Heart, Breast, Adipocyte

Publications for Angioedema, Hereditary, 3

Articles related to Angioedema, Hereditary, 3:

(show top 50) (show all 499)
# Title Authors PMID Year
1
Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III. 62 57 5
17186468 2006
2
Genetic analysis of Factor XII and bradykinin catabolic enzymes in a family with estrogen-dependent inherited angioedema. 57 5
19178938 2009
3
Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor. 57 5
16638441 2006
4
Clinical, biochemical, and genetic characterization of a novel estrogen-dependent inherited form of angioedema. 57 5
10984376 2000
5
Hereditary angioedema with normal C1-inhibitor activity in women. 62 57
10963200 2000
6
Hereditary angioedema and normal C1-inhibitor activity in women. 57
11052609 2000
7
Characterization, mRNA expression profile, subcellular distribution and association analysis with piglet diarrhea of porcine matrix metallopeptidase 7 (pMMP7). 62
35182673 2022
8
[Typing of Leishmania Species Causing Cutaneous Leishmaniasis by Sybr Green Based ITS-1 Real Time Polymerase Chain Reaction Method]. 62
35477234 2022
9
High-density genetic map and genome-wide association studies of aesthetic traits in Phalaenopsis orchids. 62
35228611 2022
10
PCR-RLFP characterization of Leishmania spp. in domestic animals from the south-western border of Brazil. 62
35858013 2022
11
Detection of Pintomyia fischeri (Diptera: Psychodidae) With Leishmania infantum (Trypanosomatida: Trypanosomatidae) Promastigotes in a Focus of Visceral Leishmaniasis in Brazil. 62
33047129 2021
12
A Novel Genotyping Method for Detection of the Muscarinic Receptor M1 Gene rs2067477 Polymorphism and Its Genotype/Allele Frequencies in a Turkish Population. 62
33389966 2020
13
Hereditary angioedema type III, recurrent pregnancy loss and heterozygous MTHFR mutation. 62
33188583 2020
14
Genotypes diversity of env gene of Bovine leukemia virus in Western Siberia. 62
33092552 2020
15
Ingenious Electrochemiluminescence Bioaptasensor Based on Synergistic Effects and Enzyme-Driven Programmable 3D DNA Nanoflowers for Ultrasensitive Detection of Aflatoxin B1. 62
32954718 2020
16
Molecular identification of Leishmania in free-ranging black and gold howler monkeys (Alouatta caraya) in northeastern Argentina. 62
32450135 2020
17
Predominant yeasts in the sourdoughs collected from some parts of Turkey. 62
32445425 2020
18
Identification of bloodmeal sources of triatomines captured in the Paraguayan Chaco region of South America by means of molecular biology analysis. 62
31973639 2020
19
Phenolic profiling and in vitro bioactivity of Moringa oleifera leaves as affected by different extraction solvents. 62
31882101 2020
20
Isolation and genetic characterization of mutans streptococci associated with dental caries in rural field practice of a dental institution: In vivo study. 62
31939366 2019
21
Prevalence and Zoonotic Potential of Giardia intestinalis in Dogs of the Central Region of Mexico. 62
31174344 2019
22
An RND transporter in the monoterpene metabolism of Castellaniella defragrans. 62
30334144 2019
23
CpaA Is a Glycan-Specific Adamalysin-like Protease Secreted by Acinetobacter baumannii That Inactivates Coagulation Factor XII. 62
30563903 2018
24
Repeated attacks of type III hereditary angioedema with factor XII mutation during pregnancy. 62
30131260 2018
25
Implications of the use of serological and molecular methods to detect infection by Leishmania spp. in urban pet dogs. 62
29545151 2018
26
Concomitant visceral and localized cutaneous leishmaniasis in two Moroccan infants. 62
29642944 2018
27
Factor XII Contact Activation. 62
28346966 2017
28
The clinical burden of human cystic echinococcosis in Palestine, 2010-2015. 62
28672021 2017
29
Molecular epidemiology of human cutaneous leishmaniasis in Jericho and its vicinity in Palestine from 1994 to 2015. 62
27268151 2017
30
Angioedema. 62
28291095 2017
31
Determination of genotypic varieties and genotyping of multiple drug-resistant tuberculosis by the RFLP and spoligotyping methods. 62
27966321 2016
32
Disrupting ER-associated protein degradation suppresses the abscission defect of a weak hae hsl2 mutant in Arabidopsis. 62
27566817 2016
33
Association of HaeIII single nucleotide polymorphisms in the SLC2A1 gene with risk of diabetic nephropathy; evidence from Kurdish patients with type 2 diabetes mellitus. 62
26337659 2016
34
[Interaction between polymorphisms of TLR4 gene 
G11367C in 3' untranslated region and IκB-α Hae III in 
acute pancreatitis and the degree of severity]. 62
27033791 2016
35
Cold active hydrolytic enzymes production by psychrotrophic Bacilli isolated from three sub-glacial lakes of NW Indian Himalayas. 62
26933936 2016
36
Exploring Glycan Markers for Immunotyping and Precision-targeting of Breast Circulating Tumor Cells. 62
26657044 2015
37
Defective glycosylation of coagulation factor XII underlies hereditary angioedema type III. 62
26193639 2015
38
Prospecting cold deserts of north western Himalayas for microbial diversity and plant growth promoting attributes. 62
25575970 2015
39
Incidence of Echinococcus granulosus in Domestic Dogs in Palestine as Revealed by Copro-PCR. 62
26181591 2015
40
Carbohydrate Microarrays Identify Blood Group Precursor Cryptic Epitopes as Potential Immunological Targets of Breast Cancer. 62
26539555 2015
41
Highly sensitive analysis of nucleic acids using capillary gel electrophoresis with ultraviolet detection based on the combination of matrix field-amplified and head-column field-amplified stacking injection. 62
25531868 2015
42
Restriction Profiling of 23S Microheterogenic Ribosomal Repeats for Detection and Characterizing of E. coli and Their Clonal, Pathogenic, and Phylogroups. 62
26885397 2015
43
[Effect of different treatment on endophytic bacterial communities in continuous cropping of Chrysanthemum morifoliu]. 62
25898574 2014
44
[Intestinal fungal diversity of sub-adult giant panda]. 62
25752141 2014
45
[Prophylactic use of icatibant before tracheal intubation of a patient with hereditary angioedema type III. (A literature review of perioperative management of patients with hereditary angioedema type III)]. 62
24931134 2014
46
Molecular typing of methicillin-resistant and methicillin-susceptible Staphylococcus aureus isolates from Shiraz teaching hospitals by PCR-RFLP of coagulase gene. 62
25802708 2014
47
Association of renin-angiotensin system genes polymorphism with progression of diabetic nephropathy in patients with type 1 diabetes mellitus. 62
25109108 2014
48
[Genetic diversity and phylogeny of soybean rhizobia isolated from the Hilly area of Central Sichuan in China]. 62
25272809 2014
49
Identification of blood meal sources of Lutzomyia longipalpis using polymerase chain reaction-restriction fragment length polymorphism analysis of the cytochrome B gene. 62
24821056 2014
50
[Management of angioedema. Guidelines of the Angiology Section of Slovak Medical Chamber (2013)]. 62
24974754 2014

Variations for Angioedema, Hereditary, 3

ClinVar genetic disease variations for Angioedema, Hereditary, 3:

5 (show top 50) (show all 70)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 F12, SLC34A1 NM_000505.4(F12):c.983C>G (p.Thr328Arg) SNV Pathogenic
Pathogenic
Pathogenic
1170 rs118204456 GRCh37: 5:176831232-176831232
GRCh38: 5:177404231-177404231
2 F12, SLC34A1 NM_000505.4(F12):c.894_911dup (p.Gln300_Thr305dup) DUP Pathogenic
403709 rs774034606 GRCh37: 5:176831303-176831304
GRCh38: 5:177404302-177404303
3 F12, SLC34A1 NM_000505.4(F12):c.971_1018+24del DEL Likely Pathogenic
441533 rs1554097246 GRCh37: 5:176831173-176831244
GRCh38: 5:177404172-177404243
4 ANGPT1 NM_001146.5(ANGPT1):c.1151G>A (p.Arg384Gln) SNV Uncertain Significance
778400 rs146465357 GRCh37: 8:108296964-108296964
GRCh38: 8:107284736-107284736
5 F12, SLC34A1 NM_000505.4(F12):c.*9G>A SNV Uncertain Significance
904429 rs1763150862 GRCh37: 5:176829284-176829284
GRCh38: 5:177402283-177402283
6 F12, SLC34A1 NM_000505.4(F12):c.158A>G (p.Tyr53Cys) SNV Uncertain Significance
1168 rs118204455 GRCh37: 5:176833020-176833020
GRCh38: 5:177406019-177406019
7 F12, SLC34A1 NM_000505.4(F12):c.286+6A>G SNV Uncertain Significance
907867 rs1763273226 GRCh37: 5:176832730-176832730
GRCh38: 5:177405729-177405729
8 F12, SLC34A1 NM_000505.4(F12):c.1018+14G>T SNV Uncertain Significance
907810 rs779057710 GRCh37: 5:176831183-176831183
GRCh38: 5:177404182-177404182
9 F12, SLC34A1 NM_000505.4(F12):c.*86C>T SNV Uncertain Significance
907757 rs777897437 GRCh37: 5:176829207-176829207
GRCh38: 5:177402206-177402206
10 F12, SLC34A1 NM_000505.4(F12):c.1142G>A (p.Arg381His) SNV Uncertain Significance
906814 rs1763214147 GRCh37: 5:176830968-176830968
GRCh38: 5:177403967-177403967
11 ANGPT1 NM_001146.5(ANGPT1):c.1110G>C (p.Gln370His) SNV Uncertain Significance
979220 rs200226727 GRCh37: 8:108297005-108297005
GRCh38: 8:107284777-107284777
12 F12, SLC34A1 NM_000505.4(F12):c.30G>A (p.Leu10=) SNV Uncertain Significance
904552 rs745617919 GRCh37: 5:176836499-176836499
GRCh38: 5:177409498-177409498
13 F12, SLC34A1 NM_000505.4(F12):c.957G>C (p.Gln319His) SNV Uncertain Significance
904494 rs1763225226 GRCh37: 5:176831258-176831258
GRCh38: 5:177404257-177404257
14 F12, SLC34A1 NM_000505.4(F12):c.928A>T (p.Arg310Trp) SNV Uncertain Significance
352997 rs749549919 GRCh37: 5:176831287-176831287
GRCh38: 5:177404286-177404286
15 F12, SLC34A1 NM_000505.4(F12):c.-25G>A SNV Uncertain Significance
353006 rs886060472 GRCh37: 5:176836553-176836553
GRCh38: 5:177409552-177409552
16 F12, SLC34A1 NM_000505.4(F12):c.1212C>G (p.Pro404=) SNV Uncertain Significance
352991 rs756802257 GRCh37: 5:176830898-176830898
GRCh38: 5:177403897-177403897
17 F12, SLC34A1 NM_000505.4(F12):c.1251-12C>A SNV Uncertain Significance
352990 rs747726864 GRCh37: 5:176830630-176830630
GRCh38: 5:177403629-177403629
18 F12, SLC34A1 NM_000505.4(F12):c.1530G>C (p.Glu510Asp) SNV Uncertain Significance
983440 rs1763185944 GRCh37: 5:176830256-176830256
GRCh38: 5:177403255-177403255
19 F12, SLC34A1 NM_000505.4(F12):c.1768T>G (p.Cys590Gly) SNV Uncertain Significance
983441 rs1157280571 GRCh37: 5:176829373-176829373
GRCh38: 5:177402372-177402372
20 F12, SLC34A1 NM_000505.4(F12):c.1599A>G (p.Ser533=) SNV Uncertain Significance
983443 rs1424350386 GRCh37: 5:176829632-176829632
GRCh38: 5:177402631-177402631
21 F12, SLC34A1 NM_000505.4(F12):c.630C>T (p.Asp210=) SNV Uncertain Significance
353000 rs886060471 GRCh37: 5:176831815-176831815
GRCh38: 5:177404814-177404814
22 F12, SLC34A1 NM_000505.4(F12):c.-8C>T SNV Likely Benign
353005 rs369991760 GRCh37: 5:176836536-176836536
GRCh38: 5:177409535-177409535
23 F12, SLC34A1 NM_000505.4(F12):c.-3G>A SNV Likely Benign
353004 rs201346142 GRCh37: 5:176836531-176836531
GRCh38: 5:177409530-177409530
24 F12, SLC34A1 NM_000505.4(F12):c.41T>C (p.Leu14Ser) SNV Likely Benign
983442 rs143809932 GRCh37: 5:176836488-176836488
GRCh38: 5:177409487-177409487
25 F12, SLC34A1 NM_000505.4(F12):c.1251-7C>T SNV Likely Benign
352989 rs375340260 GRCh37: 5:176830625-176830625
GRCh38: 5:177403624-177403624
26 F12, SLC34A1 NM_000505.4(F12):c.293G>A (p.Cys98Tyr) SNV Likely Benign
907866 rs770412757 GRCh37: 5:176832428-176832428
GRCh38: 5:177405427-177405427
27 F12, SLC34A1 NM_000505.4(F12):c.129C>T (p.Thr43=) SNV Likely Benign
904550 rs201546796 GRCh37: 5:176833049-176833049
GRCh38: 5:177406048-177406048
28 F12, SLC34A1 NM_000505.4(F12):c.1387+4C>G SNV Likely Benign
904431 rs761161412 GRCh37: 5:176830478-176830478
GRCh38: 5:177403477-177403477
29 F12, SLC34A1 NM_000505.4(F12):c.1272G>C (p.Thr424=) SNV Likely Benign
352988 rs61737766 GRCh37: 5:176830597-176830597
GRCh38: 5:177403596-177403596
30 F12, SLC34A1 NM_000505.4(F12):c.1025C>T (p.Pro342Leu) SNV Benign/Likely Benign
352993 rs2230939 GRCh37: 5:176831085-176831085
GRCh38: 5:177404084-177404084
31 F12, SLC34A1 NM_000505.4(F12):c.1107G>C (p.Ser369=) SNV Benign
352992 rs141473119 GRCh37: 5:176831003-176831003
GRCh38: 5:177404002-177404002
32 F12, SLC34A1 NM_000505.4(F12):c.930G>C (p.Arg310Ser) SNV Benign
352996 rs77098327 GRCh37: 5:176831285-176831285
GRCh38: 5:177404284-177404284
33 F12, SLC34A1 NM_000505.4(F12):c.398-12C>T SNV Benign
353002 rs56285942 GRCh37: 5:176832198-176832198
GRCh38: 5:177405197-177405197
34 F12, SLC34A1 NM_000505.4(F12):c.418C>G (p.Leu140Val) SNV Benign
353001 rs35515200 GRCh37: 5:176832166-176832166
GRCh38: 5:177405165-177405165
35 F12, SLC34A1 NM_000505.4(F12):c.711C>T (p.Pro237=) SNV Benign
352999 rs17876047 GRCh37: 5:176831589-176831589
GRCh38: 5:177404588-177404588
36 F12, SLC34A1 NM_000505.4(F12):c.756C>T (p.Ala252=) SNV Benign
352998 rs41309752 GRCh37: 5:176831544-176831544
GRCh38: 5:177404543-177404543
37 F12, SLC34A1 NM_000505.4(F12):c.1019-28T>C SNV Benign
1181607 GRCh37: 5:176831119-176831119
GRCh38: 5:177404118-177404118
38 F12, SLC34A1 NM_000505.4(F12):c.-4T>C SNV Benign
1167 rs1801020 GRCh37: 5:176836532-176836532
GRCh38: 5:177409531-177409531
39 F12, SLC34A1 NM_000505.4(F12):c.619G>C (p.Ala207Pro) SNV Benign
256310 rs17876030 GRCh37: 5:176831826-176831826
GRCh38: 5:177404825-177404825
40 F12, SLC34A1 NM_000505.4(F12):c.1018+13G>C SNV Benign
352994 rs552424629 GRCh37: 5:176831184-176831184
GRCh38: 5:177404183-177404183
41 F12, SLC34A1 NM_000505.4(F12):c.348C>A (p.Gly116=) SNV Benign
353003 rs140243617 GRCh37: 5:176832373-176832373
GRCh38: 5:177405372-177405372
42 F12, SLC34A1 NM_000505.4(F12):c.1018+12G>C SNV Benign
352995 rs758462343 GRCh37: 5:176831185-176831185
GRCh38: 5:177404184-177404184
43 F12, SLC34A1 NM_000505.4(F12):c.1299C>T (p.Asn433=) SNV Benign
352987 rs17876033 GRCh37: 5:176830570-176830570
GRCh38: 5:177403569-177403569
44 F12, SLC34A1 NM_000505.4(F12):c.1342C>T (p.Arg448Cys) SNV Benign
352986 rs115119084 GRCh37: 5:176830527-176830527
GRCh38: 5:177403526-177403526
45 F12, SLC34A1 NM_000505.4(F12):c.1251-9C>T SNV Benign
Benign
256309 rs17876032 GRCh37: 5:176830627-176830627
GRCh38: 5:177403626-177403626
46 F12, SLC34A1 NM_000505.4(F12):c.1704G>A (p.Val568=) SNV Benign
904430 rs536390950 GRCh37: 5:176829437-176829437
GRCh38: 5:177402436-177402436
47 F12, SLC34A1 NM_000505.4(F12):c.1018+19del DEL Benign
1230000 GRCh37: 5:176831178-176831178
GRCh38: 5:177404177-177404177
48 F12, SLC34A1 NM_000505.4(F12):c.530C>T (p.Ala177Val) SNV Benign
983439 rs144821595 GRCh37: 5:176831915-176831915
GRCh38: 5:177404914-177404914
49 F12, SLC34A1 NM_000505.4(F12):c.1018+11G>T SNV Benign
904493 rs570973405 GRCh37: 5:176831186-176831186
GRCh38: 5:177404185-177404185
50 F12, SLC34A1 NM_000505.4(F12):c.120C>T (p.Leu40=) SNV Benign
904551 rs149368999 GRCh37: 5:176833058-176833058
GRCh38: 5:177406057-177406057

UniProtKB/Swiss-Prot genetic disease variations for Angioedema, Hereditary, 3:

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, 3

Search GEO for disease gene expression data for Angioedema, Hereditary, 3.

Pathways for Angioedema, Hereditary, 3

Pathways related to Angioedema, Hereditary, 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.73 SERPING1 KNG1 F3 F12
2
Show member pathways
12.16 KNG1 KLK4 F3 F12
3
Show member pathways
11.48 SERPING1 KNG1 F3 F12 C1S
4
Show member pathways
11.44 SERPING1 C1S
5
Show member pathways
11.19 SERPING1 KNG1 F12
6 11.01 SERPING1 F12
7 10.94 KLK4 F12

GO Terms for Angioedema, Hereditary, 3

Cellular components related to Angioedema, Hereditary, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.9 SERPING1 KNG1 KLK4 F3 F12 C1S
2 blood microparticle GO:0072562 9.43 SERPING1 KNG1 C1S
3 collagen-containing extracellular matrix GO:0062023 9.23 SERPING1 KNG1 F3 F12

Biological processes related to Angioedema, Hereditary, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.56 SERPING1 KNG1 F3 F12
2 fibrinolysis GO:0042730 9.46 SERPING1 F12
3 hemostasis GO:0007599 8.92 SERPING1 KNG1 F3 F12

Molecular functions related to Angioedema, Hereditary, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.33 KLK4 F12 C1S
2 serine-type peptidase activity GO:0008236 9.26 C1S F12 KLK4
3 serine-type endopeptidase activity GO:0004252 9.23 KLK4 F3 F12 C1S

Sources for Angioedema, Hereditary, 3

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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