ODCs

Click node...

1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
8 signs/symptoms

Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

Epidermolysis bullosa simplex, Ogna type


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ISG15	(0.63)	PLEC

Citations in the biomedical literature:

Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency		Epidermolysis bullosa simplex, Ogna type
	Synonym(s): - MSMD due to complete ISG15 deficiency		Synonym(s): - EBS-O

	Classification (Orphanet): - Rare genetic disease - Rare immune disease		Classification (Orphanet): - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C535962

Epidermolysis bullosa simplex, Ogna type
	Very frequent - Autosomal dominant inheritance - Bruisability - Ecchymoses - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment Frequent - Follicular / erythematous / edematous papules / milium - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Nails anomalies - Skin hypoplasia / aplasia / atrophy
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
(no data available)