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1 OMIM reference -
1 associated gene
14 signs/symptoms
PROTEIN INTERACTIONS: 1
4 OMIM references -
4 associated genes
No signs/symptoms info
Naxos disease
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis

JUP ARHGDIA
PLCE1
PTPRO
WT1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Naxos disease
JUP
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
ARHGDIA PLCE1 PTPRO WT1



Naxos disease
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis

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

Synonym(s):
(no synonyms)

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

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

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:
(no data available)

External references:
1 OMIM reference -
1 MeSH reference: C538346
External references:
4 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


Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis

(no data available)