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

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KRT2	(0.63)	CBL

Citations in the biomedical literature:

Superficial epidermolytic ichthyosis		Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
	Synonym(s): - Ichthyosis bullosa of Siemens - SEI		Synonym(s): - CBL syndrome - Noonan syndrome-like disorder with JMML

	Classification (Orphanet): - Rare genetic disease - Rare skin disease		Classification (Orphanet): - Rare cardiac disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare oncologic 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: no data available Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

	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
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
(no data available)