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6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 3
1 OMIM reference -
2 associated genes
10 signs/symptoms
Semantic dementia
Lethal acantholytic epidermolysis bullosa

C9ORF72 DSP
CHMP2B JUP
GRN
MAPT
PSEN1
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PSEN1
VCP
PSEN1
(0.86)
(0.73)
(0.49)
JUP
DSP
DSP



Citations in the biomedical literature:


Semantic dementia
C9ORF72 CHMP2B GRN MAPT PSEN1 VCP

Lethal acantholytic epidermolysis bullosa
DSP JUP



Semantic dementia
Lethal acantholytic epidermolysis bullosa

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

Synonym(s):
- LAEB

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic 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: before age 5
Type of inheritance: autosomal recessive

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C535493

Lethal acantholytic epidermolysis bullosa

Very frequent
- Absent / small fingernails / anonychia of hands
- Alopecia
- Autosomal recessive inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Early death / lethality
- Enanthema / aphtosa / aphta / leukoplakia
- Premature eruption of teeth / natal teeth
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment

Occasional
- Cardiomyopathy / hypertrophic / dilated
- Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis


Semantic dementia

(no data available)