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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
Naxos disease

C9ORF72 JUP
CHMP2B
GRN
MAPT
PSEN1
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PSEN1
(0.86)
JUP



Citations in the biomedical literature:


Semantic dementia
C9ORF72 CHMP2B GRN MAPT PSEN1 VCP

Naxos disease
JUP



Semantic dementia
Naxos disease

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

Synonym(s):
- Keratosis palmoplantaris with arrythmogenic cardiomyopathy
- Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy
- Palmoplantar keratoderma with arrythmogenic cardiomyopathy

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare cardiac disease
- 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: unknown
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal recessive

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C538346

Naxos disease

Very frequent
- Abnormal hair texture / hair dysplasia
- Autosomal recessive inheritance
- Cardiac rhythm disorder / arrhythmia
- Cardiomyopathy / hypertrophic / dilated
- Dizziness
- Palmoplantar hyperkeratosis / keratoderma
- Woolly / frizzy hair

Frequent
- Brittle hair / distrix / trichorrhexis
- Cleft lip
- Heart / cardiac failure
- Hyperhidrosis / increased sweating
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness

Occasional
- Acanthosis nigricans
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest


Semantic dementia

(no data available)