High Molecular Weight Kininogen Deficiency (HMWK DEFICIENCY)

Alias:
Congenital High-Molecular-Weight Kininogen Deficiency
Hmwk Deficiency
Fitzgerald Trait
High-Molecular-Weight Kininogen Deficiency, Congenital
Kininogen Deficiency, High Molecular Weight
Flaujeac Factor Deficiency
Kininogen Deficiency
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
High Molecular Weight Kininogen Deficiency, also known as congenital high-molecular-weight kininogen deficiency, is related to prekallikrein deficiency and angioedema. An important gene associated with High Molecular Weight Kininogen Deficiency is KNG1 (Kininogen 1), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. Affiliated tissues include endothelial and skeletal muscle, and related phenotypes are prolonged partial thromboplastin time and reduced kininogen activity
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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7
46
17

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Mutations
No data available

Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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