Angioedema, Hereditary, Type Iii; Hae3

Description

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 (OMIM ) in that both concentration and function of C1 inhibitor (C1NH ) are normal (summary by Dewald and Bork, 2006).

Genes related to Angioedema, Hereditary, Type Iii; Hae3

Clinical Features

Top most frequent phenotypes and symptoms related to Angioedema, Hereditary, Type Iii; Hae3

Pain
Tics
Edema
Vomiting
Abdominal pain
Urticaria
Episodic abdominal pain
Upper airway obstruction
Angioedema
Facial edema

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Incidence and onset information

— Not enough data available about incidence and published cases.

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Angioedema, Hereditary, Type Iii; Hae3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
FXII deficiency. By Institute of Human Genetics Universitätsmedizin Greifswald in Germany. F12 Specificity 100 % Genes 100 %
Hereditary angioedema type 1-3. By Institute of Human Genetics Universitätsmedizin Greifswald in Germany. F12, SERPING1 Specificity 50 % Genes 100 %
F12 Select Exons Sequencing. By GeneDx in United States. F12 Specificity 100 % Genes 100 %
F12 mutation analysis. By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands. F12 Specificity 100 % Genes 100 %
F12. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. F12 Specificity 100 % Genes 100 %
F12. Sequencing of the exons 9. By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain. F12 Specificity 100 % Genes 100 %
Factor XII deficiency (sequence analysis of F12 gene). By CGC Genetics in Portugal. F12 Specificity 100 % Genes 100 %
Hereditary angioedema type 3 (sequence analysis of F12 gene). By CGC Genetics in Portugal. F12 Specificity 100 % Genes 100 %
Bleeding Disorders Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. F2, F5, RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, AP3B1, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, F11, VWF , (...) View the complete list with 41 more genes Panel GTR000512341 complete gene list F2, F5, RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, AP3B1, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, F11, VWF, F9, F8, ADAMTS13, ABCG5, ABCG8, GP1BA, ANO6, GP6, FGA, FGB, GGCX, TBXA2R, FGG, P2RX1, P2RY12, TBXAS1, PLAU, NBEAL2, ITGA2, HOXA11, GFI1B, CD36, ITGB3, ITGA2B, MASTL, SERPINE1, GP1BB, VKORC1, F7, PRKACG, FLI1, ACTN1, TUBB1, GP9, F10, F12, F13A1, F13B, MCFD2, SERPINF2, LMAN1 Specificity 2 % Genes 100 %
Coagulation Factor Deficiency Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. F2, F5, F11, VWF, F9, F8, FGA, FGB, GGCX, FGG, SERPINE1, VKORC1, F7, F10, F12, F13A1, F13B, MCFD2, SERPINF2, LMAN1 Specificity 5 % Genes 100 %
Factor XII Deficiency. By Medical Genetics Laboratory Diagenom GmbH in Germany. F12 Specificity 100 % Genes 100 %
Factor XII deficiency. By bio.logis Center for Human Genetics Diagnosticum in Germany. F12 Specificity 100 % Genes 100 %
Single gene testing F12. By CeGaT GmbH in Germany. F12 Specificity 100 % Genes 100 %
Platelets, Coagulation disorders Panel. By CeGaT GmbH in Germany. F2, F5, VHL, ENTPD1, F11, VWF, F8, ADAMTS13, SERPINE1, TET2, ETV6, PDGFRB, F10, F12, DSG1, F13A1, SERPINC1 Specificity 6 % Genes 100 %
Hereditary Angioedema Type III. By Labor-MVZ Westmecklenburg Laboratory for Molecular Diagnostics in Germany. F12 Specificity 100 % Genes 100 %
Angioedema, hereditary, type III. By Praxis fuer Humangenetik Wien in Austria. F12 Specificity 100 % Genes 100 %
Factor 12 deficiency. By Praxis fuer Humangenetik Wien in Austria. F12 Specificity 100 % Genes 100 %
Angioedema, hereditary, type III. By MedGene in Slovakia. F12 Specificity 100 % Genes 100 %
Factor 12 deficiency. By MedGene in Slovakia. F12 Specificity 100 % Genes 100 %
Angioedema type 3, Hereditary: F12 gene mutation analysis (p.Thr309Lys). By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. F12 Specificity 100 % Genes 100 %
Factor XII deficiency: F12 gene sequence analysis. By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain. F12 Specificity 100 % Genes 100 %
F12. By Fulgent Genetics Fulgent Genetics in United States. F12 Specificity 100 % Genes 100 %
Bleeding Disorder/Coagulopathy Panel. By Blueprint Genetics in Finland. F2, F5, RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, AP3B1, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, BLOC1S6, F11 , (...) View the complete list with 42 more genes Panel GTR000552647 complete gene list F2, F5, RUNX1, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, CYCS, AP3B1, ANKRD26, MPL, WAS, FLNA, MYH9, GATA1, BLOC1S6, F11, VWF, THBD, F9, F8, ADAMTS13, ABCG5, ABCG8, GP1BA, FGA, FGB, GGCX, TBXA2R, FGG, P2RY12, NBEAL2, HOXA11, GFI1B, ITGB3, ITGA2B, MASTL, ETV6, GP1BB, RBM8A, PROS1, PROC, VKORC1, F7, SRC, SLFN14, PRKACG, FYB1, FLI1, ACTN1, TUBB1, GP9, F10, F12, F13A1, SERPINC1, MECOM, MCFD2, LMAN1 Specificity 2 % Genes 100 %
Coagulation Factor Deficiency Panel. By Blueprint Genetics in Finland. F2, F5, F11, VWF, F9, F8, FGA, FGB, GGCX, FGG, VKORC1, F7, F10, F12, F13A1, LMAN1 Specificity 7 % Genes 100 %
Comprehensive Hematology Panel. By Blueprint Genetics in Finland. BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2 , (...) View the complete list with 219 more genes Panel GTR000552666 complete gene list BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2, MTR, TYR, SLC37A4, GPR143, CLCN7, DTNBP1, ALAS2, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, GPI, RPL35A, CYCS, HAX1, AP3B1, PUS1, PDHA1, ABCB7, TCN2, AK2, NT5C3A, CUBN, CYB5R3, SLC25A38, ANKRD26, PDHX, FANCC, BLM, BRAF, HRAS, KRAS, MAP2K1, NRAS, PTPN11, RPS19, SOS1, TINF2, RIT1, MAP2K2, CBL, ATM, NBN, PALB2, CDKN2A, BRIP1, GATA2, PAX5, SBDS, CEBPA, PRF1, RAD51C, HBA1, G6PD, HBA2, MPL, RTEL1, WAS, NF1, FLNA, ATRX, VPS13B, ACTB, SLC19A2, MYH9, PIEZO1, GATA1, KLF1, RPS26, RPS10, RPL11, RPL5, RPS24, PKLR, CDAN1, SEC23B, MAGT1, FANCB, DKC1, ATR, CTSC, BLOC1S6, LYST, TERC, TERT, PARN, CSF2RA, ABCA3, SFTPC, SFTPB, SH2D1A, F11, VWF, THBD, CTC1, WRAP53, NHP2, NOP10, F9, F8, ADAMTS13, FANCA, FANCG, FANCF, FANCE, ABCG5, ABCG8, SLX4, FANCM, FANCL, FANCI, FANCD2, XRCC2, ERCC4, SRP72, THPO, RPS7, USB1, SLC46A1, GP1BA, FGA, FGB, GGCX, MYO5A, RAB27A, TBXA2R, FGG, P2RY12, NBEAL2, ITGA2, HOXA11, GFI1B, ITGB3, ITGA2B, MASTL, JAK2, IKZF1, ETV6, CSF3R, IFNGR2, SLC4A1, GP1BB, UNC13D, FAS, STX11, ELANE, XIAP, FASLG, STXBP2, ITK, RPL15, G6PC3, VPS45, RBM8A, GFI1, LAMTOR2, RAC2, CXCR4, EPB41, SPTB, SPTA1, ANK1, EPB42, RHAG, TPI1, GSS, C15orf41, LPIN2, PROS1, FADD, WIPF1, PROC, JAGN1, VKORC1, F7, ACD, EPOR, PGM3, EPAS1, DNAJC21, SAMD9, SAMD9L, SRC, SLFN14, PRKACG, FYB1, FLI1, ACTN1, TUBB1, GP9, REN, DDX41, EGLN1, CLPB, RNF168, TRNT1, F10, F12, TF, F13A1, DHFR, SERPINC1, F13B, TMPRSS6, MECOM, RPS29, MCFD2, LMAN1, WDR1, SMARCD2, AP3D1, MTHFD1, ERCC6L2, DCLRE1B, GINS1, MRTFA, ARPC1B Specificity 1 % Genes 100 %
Genetic Study of Hereditary Thrombophilia (11 genes). By HeartGenetics, Genetics and Biotechnology, SA in Portugal. F2, F5, MTHFR, GP1BA, SERPINE1, PROS1, F12, F13A1, SERPINC1, PROCR Specificity 10 % Genes 100 %
Hereditary angioedema. By Bioarray in Spain. F12 Specificity 100 % Genes 100 %
Factor XII, deficiency. By Bioarray in Spain. F12 Specificity 100 % Genes 100 %
HEREDITARY ANGIOEDEMA, TYPE 3. By Laboratorio de Genetica Clinica SL in Spain. F12 Specificity 100 % Genes 100 %
FACTOR XII DEFICIENCY. By Laboratorio de Genetica Clinica SL in Spain. F12 Specificity 100 % Genes 100 %
Congenital Factor XII Deficiency , Sequencing F12 Gene. By Reference Laboratory Genetics in Spain. F12 Specificity 100 % Genes 100 %
Bleeding Disorders , Panel Massive Sequencing (NGS) 23 Genes. By Reference Laboratory Genetics in Spain. F2, F5, MTHFR, F11, VWF, F9, F8, ADAMTS13, GP1BA, FGA, FGB, FGG, ITGB3, ITGA2B, GP1BB, F7, GP9, F10, F12, F13A1 , (...) View the complete list with 2 more genes Panel GTR000559800 complete gene list F2, F5, MTHFR, F11, VWF, F9, F8, ADAMTS13, GP1BA, FGA, FGB, FGG, ITGB3, ITGA2B, GP1BB, F7, GP9, F10, F12, F13A1, MCFD2, LMAN1 Specificity 5 % Genes 100 %

Alternate names

Angioedema, Hereditary, Type Iii; Hae3 Is also known as hae iii, estrogen-related hae, estrogen-sensitive hae, angioneurotic edema, hereditary, with normal c1 inhibitor concentration and function, hae with normal c1 inhibitor concentration and function, hereditary angioedema with normal c1 inhibitor activity;hae 3; hae-iii; hereditary angioneurotic edema type 3; inherited estrogen-associated angioedema; inherited estrogen-associated angioneurotic edema; inherited estrogen-dependent angioedema; inherited estrogen-dependent angioneurotic edema.

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