Nance-Horan Syndrome (NHS)

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OMIM 57 302350 Disease Ontology 12 DOID:0060599 MeSH 44 C538336 Orphanet 59 ORPHA627 MESH via Orphanet 45 C538336 UMLS via Orphanet 74 C0796085

ICD10 via Orphanet 34 Q87.0 MedGen 42 C0796085 KEGG 37 H01292 SNOMED-CT via HPO 69 109504005 22810007 275480001 69056000 275478007 249311009 26098002 128602000 22066006 23986001 128306009 193570009 247053007 609587005 79410001 42059000 204108000 61142002 7973008 563001 35591002 25786006 277843001 408856003 408857007 43614003 228156007 247578003 91138005 61152003 266414008 367534004 8666004 more UMLS 73 C0796085

NIH Rare Diseases : ⁵³ 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 cataract 40 and hemochromatosis, neonatal. An important gene associated with Nance-Horan Syndrome is NHS (NHS Actin Remodeling Regulator), and among its related pathways/superpathways is Cytoskeleton remodeling_RalA regulation pathway. Affiliated tissues include eye, brain and kidney, and related phenotypes are nystagmus and intellectual disability

Disease Ontology : ¹² 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.

OMIM : ⁵⁷ 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)

UniProtKB/Swiss-Prot : ⁷⁵ 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 : ⁷⁶ Nance�??Horan syndrome is a rare X linked syndrome characterized by congenital cataract leading to... more...

Clinical features from OMIM:

302350

Search Clinical Trials , NIH Clinical Center for Nance-Horan Syndrome

Search GEO for disease gene expression data for Nance-Horan Syndrome.