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1 OMIM reference -
1 associated gene
8 signs/symptoms
PROTEIN INTERACTIONS: 4
16 OMIM references -
26 associated genes
No signs/symptoms info
Epidermolysis bullosa simplex, Ogna type
Amyotrophic lateral sclerosis

PLEC ANG
ATXN2
C9ORF72
CHMP2B
DAO
DCTN1
DPYSL3
ERBB4
FIG4
FUS
HNRNPA1
NEFH
OPTN
PFN1
PON1
PON2
PON3
PPARGC1A
PRPH
SOD1
SQSTM1
TAF15
TARDBP
UBQLN2
VAPB
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PLEC
PLEC
PLEC
PLEC
(0.63)
(0.63)
(0.59)
(0.56)
SQSTM1
VCP
FUS
TAF15



Citations in the biomedical literature:


Epidermolysis bullosa simplex, Ogna type
PLEC
Amyotrophic lateral sclerosis
ANG ATXN2 C9ORF72 CHMP2B DAO DCTN1
DPYSL3 ERBB4 FIG4 FUS HNRNPA1 NEFH
OPTN PFN1 PON1 PON2 PON3 PPARGC1A
PRPH SOD1 SQSTM1 TAF15 TARDBP UBQLN2
VAPB VCP



Epidermolysis bullosa simplex, Ogna type
Amyotrophic lateral sclerosis

Synonym(s):
- EBS-O

Synonym(s):
- ALS
- Charcot disease
- Lou Gehrig disease

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- 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: 1-9 / 100 000
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:
16 OMIM references -
1 MeSH reference: D000690

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



Amyotrophic lateral sclerosis

(no data available)