Nance-Horan Syndrome (NHS)

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Disease Ontology 12 DOID:0060599 OMIM 58 302350 KEGG 38 H01292 MeSH 45 C538336 MESH via Orphanet 46 C538336 ICD10 via Orphanet 35 Q87.0

UMLS via Orphanet 75 C0796085 Orphanet 60 ORPHA627 MedGen 43 C0796085 SNOMED-CT via HPO 70 109436001 109504005 128306009 128602000 193570009 204108000 22066006 22810007 228156007 23986001 247053007 247578003 249311009 25786006 26098002 266414008 275478007 275480001 277843001 35591002 367534004 408856003 408857007 42059000 43614003 563001 609587005 61142002 61152003 69056000 79410001 7973008 8666004 91138005 more UMLS 74 C0796085

NIH Rare Diseases : ⁵⁴ 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 hemochromatosis, neonatal and epidermolysis bullosa, junctional, non-herlitz type. An important gene associated with Nance-Horan Syndrome is NHS (NHS Actin Remodeling Regulator), and among its related pathways/superpathways are RhoGDI Pathway and Cytoskeleton remodeling_RalA regulation pathway. Affiliated tissues include testes, eye and prostate, and related phenotypes are nystagmus and mandibular prognathia

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 : ⁵⁸ 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 : ⁷⁶ 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 : ⁷⁷ 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.