ODCs

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1 OMIM reference -
2 associated genes
4 signs/symptoms

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

2 OMIM references -
2 associated genes
9 signs/symptoms

Localized epidermolysis bullosa simplex

Autosomal recessive epidermolysis bullosa simplex

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


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

Citations in the biomedical literature:

Localized epidermolysis bullosa simplex		Autosomal recessive epidermolysis bullosa simplex
	Synonym(s): - EBS-loc - Epidermolysis bullosa simplex of palms and soles - Epidermolysis bullosa simplex, Weber-Cockayne type		Synonym(s): - EBS-AR

	Classification (Orphanet): - 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: 1-9 / 1 000 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Localized epidermolysis bullosa simplex		Autosomal recessive epidermolysis bullosa simplex
	Very frequent - Autosomal dominant inheritance - Ecchymoses Frequent - Hyperhidrosis / increased sweating		Very frequent - Autosomal recessive inheritance Frequent - Abnormal erosion / resorption of teeth / odontolysis - Anaemia - Failure to thrive / difficulties for feeding in infancy / growth delay - Multiple caries - Nails anomalies - Palmoplantar hyperkeratosis / keratoderma Occasional - Ichthyosis / ichthyosiform dermatitis