ODCs

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1 OMIM reference -
1 associated gene
6 signs/symptoms

COMMON GENES: 1
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

1 OMIM reference -
2 associated genes
10 signs/symptoms

Naegeli-Franceschetti-Jadassohn syndrome

Epidermolysis bullosa simplex with mottled pigmentation

KRT14	(UniProt - OMIM)		KRT14	(UniProt - OMIM)
			KRT5	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KRT14	(0.69)	KRT5

Citations in the biomedical literature:

Naegeli-Franceschetti-Jadassohn syndrome		Epidermolysis bullosa simplex with mottled pigmentation
	Synonym(s): - NFJ syndrome - Naegeli syndrome		Synonym(s): - EBS-MP

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		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		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C535959


COMMON SIGNS	- Autosomal dominant inheritance - Palmoplantar hyperkeratosis / keratoderma

Naegeli-Franceschetti-Jadassohn syndrome		Epidermolysis bullosa simplex with mottled pigmentation
	Very frequent - Dysplastic / thick / grooved fingernails - Dysplastic / thick / grooved toenails - Enamel anomaly - Irregular / in bands / reticular skin hyperpigmentation		Very frequent - Abnormal pigmentary skin changes / skin pigmentation anomalies - Follicular / erythematous / edematous papules / milium - Irregular / patchy skin hypopigmentation - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Abnormal fingernails - Bruisability - Nails anomalies - Premature ageing