NHS
MCID: NNC002
MIFTS: 44
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Nance-Horan Syndrome (NHS)
Categories:
Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Oral diseases, Rare diseases
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MalaCards integrated aliases for Nance-Horan Syndrome:
Characteristics:Orphanet epidemiological data:58
nance-horan syndrome
Inheritance: X-linked dominant; Age of onset: Neonatal; Age of death: normal life expectancy; HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Oral diseases
ICD10:
33
Orphanet: 58
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NIH Rare Diseases :
52
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.
MalaCards based summary : Nance-Horan Syndrome, also known as cataract-dental syndrome, is related to decubitus ulcer and chronic ulcer of skin. An important gene associated with Nance-Horan Syndrome is NHS (NHS Actin Remodeling Regulator). Affiliated tissues include eye, and related phenotypes are cataract and mandibular prognathia Disease Ontology : 12 A syndrome 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. OMIM : 56 Nance-Horan syndrome is an X-linked disorder characterized by congenital cataracts, dental anomalies, dysmorphic features, and, in some cases, mental retardation (summary by Burdon et al., 2003). (302350) KEGG : 36 Nance-Horan syndrome (NHS) is an X-linked developmental disorder characterized by congenital cataract, dental anomalies, facial dysmorphism and, in some cases, mental retardation. Mutations in NHS gene have been identified in patients with this syndrome. UniProtKB/Swiss-Prot : 73 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. Wikipedia : 74 Nance-Horan syndrome is a rare X linked syndrome characterized by congenital cataract leading to... more... |
Human phenotypes related to Nance-Horan Syndrome:58 31 (show all 31)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:302350 |
Cochrane evidence based reviews: nance-horan syndrome |
MalaCards organs/tissues related to Nance-Horan Syndrome:40
Eye
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Articles related to Nance-Horan Syndrome:(show top 50) (show all 67)
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ClinVar genetic disease variations for Nance-Horan Syndrome:6 (show top 50) (show all 57)
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Search
GEO
for disease gene expression data for Nance-Horan Syndrome.
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Cellular components related to Nance-Horan Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Nance-Horan Syndrome according to GeneCards Suite gene sharing:
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