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1 OMIM reference -
1 associated gene
14 signs/symptoms
PROTEIN INTERACTIONS: 1
3 associated genes
4 signs/symptoms
Naxos disease
Well-differentiated liposarcoma

JUP CDK4
HMGA2
MDM2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
JUP
(0.63)
MDM2



Citations in the biomedical literature:


Naxos disease
JUP
Well-differentiated liposarcoma
CDK4 HMGA2 MDM2



Naxos disease
Well-differentiated liposarcoma

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

Synonym(s):
- ALT
- Atypical lipoma
- Atypical lipomatous tumor
- WDLS

Classification (Orphanet):
- Rare cardiac disease
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare oncologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Neoplasms -

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: sporadic

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

Naxos disease
Well-differentiated liposarcoma

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


Very frequent
- Soft tissue sarcoma / cancer / tumor / liposarcoma / myosarcoma
- Subcutaneous nodules / lipomas / tumefaction / swelling

Occasional
- Functional anomalies of the kidney and the urinary tract
- Intestinal transit disorder