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:51
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:45 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 40, x-linked and cataract, and has symptoms including abnormal nasal morphology, nystagmus and cataract. An important gene associated with Nance-Horan Syndrome is NHS (NHS Actin Remodeling Regulator). Affiliated tissues include eye, bone and lung.
OMIM:49 Nance-Horan syndrome is an X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic... (302350) more...
UniProtKB/Swiss-Prot:67 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.
Symptoms by clinical synopsis from OMIM:302350
Clinical features from OMIM:302350
Symptoms:51 (show all 18)
HPO human phenotypes related to Nance-Horan Syndrome:(show all 35)
MalaCards organs/tissues related to Nance-Horan Syndrome:33
Eye, Bone, Lung, Cerebellum, Liver, Prostate, Thyroid
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.
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet