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Nance-Horan syndrome
1 OMIM reference -
1 associated gene
7 connected diseases
18 signs/symptoms
Disease Type of connection
Nuclear cataract
Total congenital cataract
Congenital bilateral absence of vas deferens
Cystic fibrosis
Hereditary chronic pancreatitis
Idiopathic bronchiectasis
Male infertility with normal virilization due to meiosis defect
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare odontologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: x-linked dominant
External references:
1 OMIM reference -
1 MeSH reference: C538336
Gene symbol UniProt reference OMIM reference
NHS Q6T4R5300457
Very frequent
- Anomalies of teeth and dentition
- Cataract / lens opacification
- High nasal bridge
- Long face
- Long / large / bulbous nose
- Microcornea
- Nystagmus
- Prognathism / prognathia
- Visual loss / blindness / amblyopia

Frequent
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Metacarpal anomalies / Archibald's sign
- Prominent / bat ears
- Strabismus / squint
- Supernumerary teeth / polyodontia

Occasional
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Glaucoma
- Psychic / behavioural troubles
- Retinal detachment