ODCs

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

PROTEIN INTERACTIONS: 2

1 OMIM reference -
2 associated genes
17 signs/symptoms

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

Generalized epidermolysis bullosa simplex, non-Dowling-Meara type

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


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CBL CBL	(0.63) (0.63)	KRT14 KRT5

Citations in the biomedical literature:

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia		Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
	Synonym(s): - CBL syndrome - Noonan syndrome-like disorder with JMML		Synonym(s): - Epidermolysis bullosa simplex, Koebner type - Epidermolysis bullosa simplex, KÃ¶bner type - Generalized EBS, non-Dowling-Meara type

	Classification (Orphanet): - Rare cardiac disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare oncologic 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: (no data available)		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: C535961

Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
	Very frequent - Autosomal recessive inheritance - Enanthema / aphtosa / aphta / leukoplakia - Mucosal / cutaneous hemorrhage - Muscle weakness / flaccidity - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Enamel anomaly - Follicular / erythematous / edematous papules / milium - Hyperhidrosis / increased sweating - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Nails anomalies - Ophthalmoplegia / ophthalmoparesis / oculomotor palsy - Palmoplantar hyperkeratosis / keratoderma - Ptosis - Respiratory rhythm disorder Occasional - Failure to thrive / difficulties for feeding in infancy / growth delay - Myasthenia - Respiratory distress / dyspnea / respiratory failure / lung volume reduction
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
(no data available)