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8 OMIM references -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
14 signs/symptoms
Fuchs endothelial corneal dystrophy
Naxos disease

AGBL1 JUP
COL8A2
SLC4A11
TCF4
ZEB1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TCF4
(0.55)
JUP



Citations in the biomedical literature:


Fuchs endothelial corneal dystrophy
AGBL1 COL8A2 SLC4A11 TCF4 ZEB1
Naxos disease
JUP



Fuchs endothelial corneal dystrophy
Naxos disease

Synonym(s):
- Endoepithelial corneal dystrophy
- FECD
- Late hereditary endothelial dystrophy

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

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

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant
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:
8 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


Fuchs endothelial corneal dystrophy

(no data available)