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1 OMIM reference -
1 associated gene
8 signs/symptoms
PROTEIN INTERACTIONS: 1
Epidermolysis bullosa simplex, Ogna type
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

PLEC ISG15


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Epidermolysis bullosa simplex, Ogna type
PLEC
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ISG15



Epidermolysis bullosa simplex, Ogna type
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency

Synonym(s):
- EBS-O

Synonym(s):
- MSMD due to complete ISG15 deficiency

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

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

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

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

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)