Nance-Horan Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases, Oral diseases
Aliases & Descriptions for Nance-Horan Syndrome:
Orphanet epidemiological data:52
Inheritance: X-linked dominant; Age of onset: Neonatal; Age of death: normal life expectancy
Inheritance: x-linked dominant inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Eye diseases, Oral diseases
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis
Rare odontological diseases
NIH Rare Diseases:46 Nance-horan syndrome is a rare genetic disorder that may be evident at birth. it is characterized by teeth abnormalities and cataracts, resulting in poor vision. additional eye abnormalities are also often present, including a very small cornea and nystagmus. in some cases, the condition may also be associated with physical abnormalities and/or intellectual disability. the range and severity of symptoms may vary greatly from one person to another, even among affected members of the same family. nance-horan syndrome is caused by a mutation in the nhs gene and is inherited as an x-linked dominant trait, which means that both males and females can be affected, but males often have more severe symptoms.the treatment is directed toward the specific symptoms that are apparent in the individual. last updated: 9/15/2015
MalaCards based summary: Nance-Horan Syndrome, also known as cataract-dental syndrome, is related to cataract and melioidosis, and has symptoms including long face, mandibular prognathia and prominent nasal bridge. An important gene associated with Nance-Horan Syndrome is NHS (NHS Actin Remodeling Regulator). Affiliated tissues include eye and bone.
OMIM:50 Nance-Horan syndrome is an X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic... (302350) more...
UniProtKB/Swiss-Prot:68 Nance-Horan syndrome: 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.
Diseases related to Nance-Horan Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of diseases related to Nance-Horan Syndrome:
Symptoms by clinical synopsis from OMIM:302350
Clinical features from OMIM:302350
Symptoms:52 (show all 19)
HPO human phenotypes related to Nance-Horan Syndrome:(show all 35)
MalaCards organs/tissues related to Nance-Horan Syndrome:34
Articles related to Nance-Horan Syndrome:(show all 35)
Clinvar genetic disease variations for Nance-Horan Syndrome:5
Search GEO for disease gene expression data for Nance-Horan Syndrome.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet