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Congenital high-molecular-weight kininogen deficiency
1 OMIM reference -
1 associated gene
32 connected diseases
No signs/symptoms info
Disease Type of connection
Congenital factor XI deficiency
Congenital prekallikrein deficiency
Genetic hyperferritinemia without iron overload
Hereditary hyperferritinemia with congenital cataracts
Neuroferritinopathy
Leukocyte adhesion deficiency type I
Annular epidermolytic ichthyosis
Epidermolytic ichthyosis
Epidermolytic palmoplantar keratoderma
Hypoplasminogenemia
Ichthyosis hystrix of Curth-Macklin
Keratosis palmoplantaris striata
Ligneous conjunctivitis
Autosomal dominant severe congenital neutropenia
Cyclic neutropenia
Congenital factor XII deficiency
Hereditary angioedema type 3
Pycnodysostosis
Bernard-Soulier syndrome
Fetal and neonatal alloimmune thrombocytopenia
Von Willebrand disease, platelet type
Cerebral sinovenous thrombosis
Congenital factor II deficiency
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Hirschsprung disease
Renal tubular dysgenesis of genetic origin
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
KNG1 P01042612358
No signs/symptoms info available.