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Corneal intraepithelial dyskeratosis with palmoplantar hyperkeratosis and laryngeal dyskeratosis
1 OMIM reference -
1 associated gene
9 connected diseases
No signs/symptoms info
Disease Type of connection
Vitiligo-associated autoimmune disease
Follicular lymphoma
Intravascular large B-cell lymphoma
Apolipoprotein A-I deficiency
Familial renal amyloidosis due to Apolipoprotein AI variant
Primary systemic amyloidosis
Behçet disease
Blau syndrome
Pseudohypoaldosteronism type 2E
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: variable
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
NLRP1 Q9C000606636
No signs/symptoms info available.