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Naxos disease
1 OMIM reference -
1 associated gene
86 connected diseases
14 signs/symptoms
Disease Type of connection
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Lethal acantholytic epidermolysis bullosa
Familial isolated dilated cardiomyopathy
Autosomal dominant nonsyndromic intellectual deficit
Keratosis palmoplantaris striata
Desmoid tumor
Amyotrophic lateral sclerosis
Epidermolysis bullosa simplex with pyloric atresia
APC-related attenuated familial adenomatous polyposis
Familial adenomatous polyposis due to 5q22.2 microdeletion
Familial gastric cancer
Gardner syndrome
Gastric linitis plastica
Turcot syndrome with polyposis
Diffuse palmoplantar keratoderma with painful fissures
Focal palmoplantar keratoderma with joint keratoses
Severe dermatitis-multiple allergies-metabolic wasting syndrome
Idiopathic pulmonary fibrosis
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Behavioral variant of frontotemporal dementia
Early-onset autosomal dominant Alzheimer disease
Progressive non-fluent aphasia
Semantic dementia
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
Split hand-split foot malformation
Hepatocellular carcinoma, childhood-onset
Estrogen resistance syndrome
Giant cell glioblastoma
EEM syndrome
Hypotrichosis with juvenile macular degeneration
Hereditary hypotrichosis with recurrent skin vesicles
X-linked Charcot-Marie-Tooth disease type 1
X-linked progressive cerebellar ataxia
Spinocerebellar ataxia type 12
46,XY partial gonadal dysgenesis
Aicardi-Goutières syndrome
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Autosomal recessive limb-girdle muscular dystrophy type 2T
Bruck syndrome
Cabezas syndrome
Chilblain lupus
Congenital muscular dystrophy with cerebellar involvement
Congenital muscular dystrophy with intellectual disability
Constitutional mismatch repair deficiency syndrome
Dedifferentiated liposarcoma
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial pancreatic carcinoma
Familial prostate cancer
Frontotemporal dementia with motor neuron disease
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary nonpolyposis colon cancer
Hereditary site-specific ovarian cancer syndrome
Isolated growth hormone deficiency type IA
Isolated growth hormone deficiency type IB
Isolated growth hormone deficiency type II
Muir-Torre syndrome
Muscle-eye-brain disease
Non-polyposis Turcot syndrome
Primary peritoneal carcinoma
Short stature due to growth hormone qualitative anomaly
Well-differentiated liposarcoma
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Fuchs endothelial corneal dystrophy
Pallister-Hall syndrome
Pitt-Hopkins syndrome
Primary sclerosing cholangitis
Autosomal dominant limb-girdle muscular dystrophy type 1E
Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Dubin-Johnson syndrome
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex, Ogna type
Generalized junctional epidermolysis bullosa, non-Herlitz type
Hypotrichosis simplex
Junctional epidermolysis bullosa - pyloric atresia
Localized junctional epidermolysis bullosa, non-Herlitz type
Scapuloperoneal amyotrophy
- Keratosis palmoplantaris with arrythmogenic cardiomyopathy
- Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy
- Palmoplantar keratoderma with arrythmogenic cardiomyopathy

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

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

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:
1 OMIM reference -
1 MeSH reference: C538346

Gene symbol UniProt reference OMIM reference
JUP P14923173325
Very frequent
- Abnormal hair texture / hair dysplasia
- Autosomal recessive inheritance
- Cardiac rhythm disorder / arrhythmia
- Cardiomyopathy / hypertrophic / dilated
- Dizziness
- Palmoplantar hyperkeratosis / keratoderma
- Woolly / frizzy hair

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

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