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1 OMIM reference -
1 associated gene
8 signs/symptoms
PROTEIN INTERACTIONS: 1
3 OMIM references -
3 associated genes
No signs/symptoms info
Epidermolysis bullosa simplex, Ogna type
Frontotemporal dementia with motor neuron disease

PLEC C9ORF72
FUS
TARDBP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PLEC
(0.59)
FUS



Citations in the biomedical literature:


Epidermolysis bullosa simplex, Ogna type
PLEC
Frontotemporal dementia with motor neuron disease
C9ORF72 FUS TARDBP



Epidermolysis bullosa simplex, Ogna type
Frontotemporal dementia with motor neuron disease

Synonym(s):
- EBS-O

Synonym(s):
- FTD-ALS
- FTD-MND
- Frontotemporal dementia with amyotrophic lateral sclerosis

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):
(no data available)

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: unknown
Average age onset: adulthood
Average age of death: adult
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: C535962
External references:
3 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



Frontotemporal dementia with motor neuron disease

(no data available)