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Congenital factor XII deficiency
1 OMIM reference -
1 associated gene
26 connected diseases
No signs/symptoms info
Disease Type of connection
Hereditary angioedema type 3
Bernard-Soulier syndrome
Fetal and neonatal alloimmune thrombocytopenia
Von Willebrand disease, platelet type
Autosomal dominant secondary polycythemia
Multiple paragangliomas associated with polycythemia
Sporadic pheochromocytoma
Sporadic secreting paraganglioma
Congenital high-molecular-weight kininogen 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
Annular epidermolytic ichthyosis
Congenital prekallikrein deficiency
Epidermolytic ichthyosis
Epidermolytic palmoplantar keratoderma
Ichthyosis hystrix of Curth-Macklin
Keratosis palmoplantaris striata
Metaphyseal anadysplasia
Nodulosis-arthropathy-osteolysis syndrome
Spondyloepimetaphyseal dysplasia, Missouri type
Torg-Winchester syndrome
Synonym(s):
- Congenital Hageman factor deficiency
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:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
F12 P00748610619
No signs/symptoms info available.