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1 OMIM reference -
1 associated gene
14 signs/symptoms
PROTEIN INTERACTIONS: 1
3 OMIM references -
3 associated genes
No signs/symptoms info
Naxos disease
Frontotemporal dementia with motor neuron disease

JUP C9ORF72
FUS
TARDBP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
JUP
(0.63)
TARDBP



Citations in the biomedical literature:


Naxos disease
JUP
Frontotemporal dementia with motor neuron disease
C9ORF72 FUS TARDBP



Naxos disease
Frontotemporal dementia with motor neuron disease

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

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

Classification (Orphanet):
- Rare cardiac disease
- 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: no data available
Type of inheritance: autosomal recessive
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: C538346
External references:
3 OMIM references -
No MeSH references

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


Frontotemporal dementia with motor neuron disease

(no data available)