ODCs

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1 OMIM reference -
1 associated gene
8 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Superficial epidermolytic ichthyosis

Aneurysm - osteoarthritis syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KRT2	(0.59)	SMAD3

Citations in the biomedical literature:

Superficial epidermolytic ichthyosis		Aneurysm - osteoarthritis syndrome
	Synonym(s): - Ichthyosis bullosa of Siemens - SEI		Synonym(s): - AOS - Loeys-Dietz syndrome with osteoarthritis

	Classification (Orphanet): - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare circulatory system disease - Rare genetic disease - Rare surgical thoracic disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal dominant		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 - 1 MeSH reference: D053560		External references: 1 OMIM reference - No MeSH references

Superficial epidermolytic ichthyosis
	Very frequent - Autosomal dominant inheritance - Cutaneous edema - Ichthyosis / ichthyosiform dermatitis - Palmoplantar hyperkeratosis / keratoderma - Positive Nikolski's sign / achantolysis - Thin skin - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Occasional - Erythema / erythematous lesions / erythroderma / polymorphous erythema
Aneurysm - osteoarthritis syndrome
(no data available)