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1 OMIM reference -
1 associated gene
8 signs/symptoms
PROTEIN INTERACTIONS: 1
14 OMIM references -
13 associated genes
No signs/symptoms info
Epidermolysis bullosa simplex, Ogna type
Young adult-onset Parkinsonism

PLEC EIF4G1
GBA
GIGYF2
HTRA2
LRRK2
NR4A2
PACRG
PARK2
PARK7
PINK1
SNCA
UCHL1
VPS35


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PLEC
(0.63)
LRRK2



Citations in the biomedical literature:


Epidermolysis bullosa simplex, Ogna type
PLEC
Young adult-onset Parkinsonism
EIF4G1 GBA GIGYF2 HTRA2 LRRK2 NR4A2
PACRG PARK2 PARK7 PINK1 SNCA UCHL1
VPS35



Epidermolysis bullosa simplex, Ogna type
Young adult-onset Parkinsonism

Synonym(s):
- EBS-O

Synonym(s):
- Early-onset Parkinson disease
- Familial Parkinson disease
- Hereditary Parkinson disease
- Young-onset Parkinson disease

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -

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: 1-5 / 10 000
Average age onset: adulthood
Average age of death: elderly
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: C535962
External references:
14 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



Young adult-onset Parkinsonism

(no data available)