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Nance-Horan syndrome

Disease Summary
Associated Targets (3)
Tdark

2

Tbio

1


GARD Rare
Mondo Description Nance-Horan syndrome (NHS) is characterized by the association in male patients of congenital cataracts with microcornea, dental anomalies and facial dysmorphism.
Uniprot Description Rare X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, mental retardation. Distinctive dental anomalies are seen in affected males, including supernumerary incisors and crown shaped permanent teeth. Characteristic facial features are anteverted pinnae, long face, and prominent nasal bridge and nose. Carrier females display milder variable symptoms of disease with lens opacities often involving the posterior Y sutures, and on occasion dental anomalies and the characteristic facial features described.
Disease Ontology Description A X-linked dominant disease that has_material_basis_in mutation in the NHS gene on chromosome Xp22 and is characterized by congenital cataract leading to profound vision loss, characteristic dysmorphic features and dental anomalies.
Mondo Term and Equivalent IDs
MONDO:0010545:  Nance-Horan syndrome
GARD:0007161: 
MESH:C538336: 
Orphanet:627: 
SCTID:445257004: 
UMLS:C0796085: