Angioedema, Hereditary, Type I; Hae1

Description

Hereditary angioedema (HAE) is an autosomal dominant disorder characterized by episodic local subcutaneous edema and submucosal edema involving the upper respiratory and gastrointestinal tracts. There are 2 classic types of the disorder. In type I, representing 85% of patients, serum levels of C1NH are less than 35% of normal (Cicardi and Agostoni, 1996; Bowen et al., 2001). In type II, the levels are normal or elevated, but the protein is nonfunctional. The 2 types are clinically indistinguishable.See {300145} for a discussion of angioedema induced by ACE inhibitors.Zuraw (2008) provided a detailed review of the clinical features, management, and pathogenesis of hereditary angioedema.

Clinical Features

Top most frequent phenotypes and symptoms related to Angioedema, Hereditary, Type I; Hae1

  • Peripheral neuropathy
  • Pain
  • Edema
  • Dysphagia
  • Abnormality of metabolism/homeostasis
  • Diarrhea
  • Vomiting
  • Respiratory distress
  • Erythema
  • Abdominal pain
And another 37 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Angioedema, Hereditary, Type I; Hae1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary angioedema type 1-3.

By Institute of Human Genetics Universitätsmedizin Greifswald in Germany.

F12, SERPING1
Specificity
50 %
Genes
100 %
C1NH (SERPING1) mutation analysis.

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam in Netherlands.

SERPING1
Specificity
100 %
Genes
100 %
SERPING1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

SERPING1
Specificity
100 %
Genes
100 %
Hereditary angioedema type 1 (sequence analysis of SERPING1 gene).

By CGC Genetics in Portugal.

SERPING1
Specificity
100 %
Genes
100 %
Hereditary angioedema type 1 (deletion/duplication analysis of SERPING1 gene).

By CGC Genetics in Portugal.

SERPING1
Specificity
100 %
Genes
100 %
Hereditary Angioedema via SERPING1 /C1NH Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

SERPING1
Specificity
100 %
Genes
100 %
Angioedema, hereditary.

By Centogene AG - the Rare Disease Company in Germany.

SERPING1
Specificity
100 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
Vascular and lymphatic disorders Panel.

By CeGaT GmbH in Germany.

GJC2, GATA2, ENG, KRIT1, CCM2, PDCD10, TREX1, FOXC2, FAT4, RASA1, SOX18, CCBE1, ACVRL1, GDF2, VEGFC, KIF11, FLT4, SERPING1
Specificity
6 %
Genes
100 %
Single gene testing SERPING1.

By CeGaT GmbH in Germany.

SERPING1
Specificity
100 %
Genes
100 %
Complement deficiencies Panel.

By CeGaT GmbH in Germany.

PIGA, CFB, CFI, CFH, CD46, C3, THBD, C1S, C1R, CFHR1, CFHR3, DGKE, MASP1, C7, FCN3, CFD, C2, SERPING1, C1QC, C1QA , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Hereditary angioneurotic edema (SERPING1).

By Center for Human Genetics Cliniques Universitaires Saint Luc in Belgium.

SERPING1
Specificity
100 %
Genes
100 %
Angioedema, hereditary.

By Praxis fuer Humangenetik Wien in Austria.

SERPING1
Specificity
100 %
Genes
100 %
Complement component 4, partial deficiency of.

By Praxis fuer Humangenetik Wien in Austria.

SERPING1
Specificity
100 %
Genes
100 %
Hereditary angioedema.

By Department of Clinical Genetics St. Elisabeth Cancer Institute in Slovakia.

SERPING1
Specificity
100 %
Genes
100 %
Angioedema, hereditary.

By MedGene in Slovakia.

SERPING1
Specificity
100 %
Genes
100 %
Complement component 4, partial deficiency of.

By MedGene in Slovakia.

SERPING1
Specificity
100 %
Genes
100 %
Angioedema type 1 and 2, Hereditary: SERPING1 gene sequence analysis.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases in Spain.

SERPING1
Specificity
100 %
Genes
100 %
SERPING1.

By Fulgent Genetics Fulgent Genetics in United States.

SERPING1
Specificity
100 %
Genes
100 %
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
100 %
Complement System Disorder Panel.

By Blueprint Genetics in Finland.

CCDC39, PIGA, OFD1, CCNO, SPAG1, CCDC65, DNAAF4, RSPH1, ARMC4, ZMYND10, DRC1, CCDC114, LRRC6, DNAAF5, CCDC103, DNAAF3, DNAL1, CCDC40, DNAAF1, RSPH9 , (...)

View the complete list with 55 more genes
Specificity
2 %
Genes
100 %
Hereditary angioedema.

By Bioarray in Spain.

SERPING1
Specificity
100 %
Genes
100 %
HEREDITARY ANGIOEDEMA, TYPE 1 (QUINCKE'S EDEMA).

By Laboratorio de Genetica Clinica SL in Spain.

SERPING1
Specificity
100 %
Genes
100 %
Hereditary Angioedema Type 1 and 2, Sequencing SERPING1 Gene.

By Reference Laboratory Genetics in Spain.

SERPING1
Specificity
100 %
Genes
100 %
Hereditary Angioedema Types 1 and 2 , Deletions-Duplications (MLPA) SERPING1 Gene.

By Reference Laboratory Genetics in Spain.

SERPING1
Specificity
100 %
Genes
100 %

Alternate names

Angioedema, Hereditary, Type I; Hae1 Is also known as angioneurotic edema, hereditary;hane, c1 esterase inhibitor, deficiency of;hae 1; hae-i; hereditary angioneurotic edema type 1.



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