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Naegeli-Franceschetti-Jadassohn syndrome
1 OMIM reference -
1 associated gene
44 connected diseases
6 signs/symptoms
Disease Type of connection
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex, Dowling-Meara type
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
Localized epidermolysis bullosa simplex
Autosomal recessive epidermolysis bullosa simplex
Dermatopathia pigmentosa reticularis
Epidermolysis bullosa simplex due to plakophilin deficiency
Congenital analbuminemia
Dedifferentiated liposarcoma
Richieri Costa-Pereira syndrome
Well-differentiated liposarcoma
Dowling-Degos disease
Epidermolysis bullosa simplex with circinate migratory erythema
Spinocerebellar ataxia type 12
APC-related attenuated familial adenomatous polyposis
B-cell chronic lymphocytic leukemia
Bannayan-Riley-Ruvalcaba syndrome
Cabezas syndrome
Cowden syndrome
Desmoid tumor
Familial adenomatous polyposis due to 5q22.2 microdeletion
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Gardner syndrome
Giant cell glioblastoma
Gliosarcoma
Hereditary breast and ovarian cancer syndrome
Juvenile myelomonocytic leukemia
Juvenile polyposis of infancy
Leber congenital amaurosis
Lhermitte-Duclos disease
Macrocephaly-autism syndrome
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Opsismodysplasia
Proteus syndrome
Proteus-like syndrome
Pseudohypoaldosteronism type 2E
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Senior-Loken syndrome
Squamous cell carcinoma of head and neck
Turcot syndrome with polyposis
Meesmann corneal dystrophy
Synonym(s):
- NFJ syndrome
- Naegeli syndrome
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
KRT14 P02533148066
Very frequent
- Autosomal dominant inheritance
- Dysplastic / thick / grooved fingernails
- Dysplastic / thick / grooved toenails
- Enamel anomaly
- Irregular / in bands / reticular skin hyperpigmentation
- Palmoplantar hyperkeratosis / keratoderma