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6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
14 signs/symptoms
Semantic dementia
Epidermolysis bullosa simplex with muscular dystrophy

C9ORF72 PLEC
CHMP2B
GRN
MAPT
PSEN1
VCP


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Semantic dementia
C9ORF72 CHMP2B GRN MAPT PSEN1 VCP

Epidermolysis bullosa simplex with muscular dystrophy
PLEC



Semantic dementia
Epidermolysis bullosa simplex with muscular dystrophy

Synonym(s):
- Semantic primary progressive aphasia
- Semantic variant PPA

Synonym(s):
- EBS-MD
- Limb girdle dystrophy with epidermolysis bullosa simplex

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare skin disease

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

Epidemiological data:
Class of prevalence: -
Average age onset: adulthood
Average age of death: -
Type of inheritance: multigenic/multifactorial
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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

Epidermolysis bullosa simplex with muscular dystrophy

Very frequent
- Alopecia
- Autosomal recessive inheritance
- Muscle weakness / flaccidity
- Myopathy
- Ophthalmoplegia / ophthalmoparesis / oculomotor palsy
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Thin / hypoplastic / hyperconvex fingernails
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Frequent
- Enamel anomaly
- Follicular / erythematous / edematous papules / milium
- Ptosis
- Skin hypoplasia / aplasia / atrophy

Occasional
- Asthenia / fatigue / weakness
- Myasthenia


Semantic dementia

(no data available)