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HAE3
MCID: ANG045
MIFTS: 27
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Angioedema, Hereditary, Type Iii (HAE3)
Categories:
Bone diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Oral diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Angioedema, Hereditary, Type Iii:
Characteristics:Orphanet epidemiological data:60
hereditary angioedema type 3
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:33Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Bone diseases Immune diseases Oral diseases Gastrointestinal diseases Skin diseases
ICD10:
35
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UniProtKB/Swiss-Prot
:
76
Hereditary angioedema 3: An 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) |
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:
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Human phenotypes related to Angioedema, Hereditary, Type Iii:33 (show all 7)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:610618 |
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Cochrane evidence based reviews: hereditary angioedema type iii |
MalaCards organs/tissues related to Angioedema, Hereditary, Type Iii:42
Skin,
Bone
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Articles related to Angioedema, Hereditary, Type Iii:
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Genes related to Angioedema, Hereditary, Type Iii (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Angioedema, Hereditary, Type Iii:76
ClinVar genetic disease variations for Angioedema, Hereditary, Type Iii:6
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Search
GEO
for disease gene expression data for Angioedema, Hereditary, Type Iii.
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