Boucher-Neuhauser Syndrome (BNHS)

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OMIM 57 215470 Orphanet 59 ORPHA1180 ICD10 via Orphanet 34 G11.8 UMLS via Orphanet 74 C1859093 MedGen 42 C1859093

MeSH 44 D007006 D013132 D058499 KEGG 37 H02140 SNOMED-CT via HPO 69 258211005 33927004 314407005 246622003 409668002 85102008 221360009 397790002 405946002 95646004 349006 37280007 30721006 102935005 77420001 252157006 255314001 129609000 more UMLS 73 C1859093

OMIM : ⁵⁷ Boucher-Neuhauser syndrome is an autosomal recessive disorder characterized classically by the triad of spinocerebellar ataxia, hypogonadotropic hypogonadism, and visual impairment due to chorioretinal dystrophy. The age at onset is variable, but most patients develop one or more symptoms in the first decade of life. Chorioretinal dystrophy may not always be present. BNHS is part of a spectrum of neurodegenerative diseases associated with mutations in the PNPLA6 gene that also includes spastic paraplegia-39 (SPG39; 612020) (summary by Synofzik et al., 2014). See also Gordon Holmes syndrome (GDHS; 212840), caused by mutation in the RNF216 gene (609948), which is also characterized by the combination of cerebellar ataxia and hypogonadotropic hypogonadism. (215470)

MalaCards based summary : Boucher-Neuhauser Syndrome, also known as spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy, is related to ataxia - hypogonadism - choroidal dystrophy and gordon holmes syndrome, and has symptoms including action tremor, scanning speech and cerebellar ataxia. An important gene associated with Boucher-Neuhauser Syndrome is PNPLA6 (Patatin Like Phospholipase Domain Containing 6), and among its related pathways/superpathways is Glycerophospholipid metabolism. Affiliated tissues include eye and neutrophil, and related phenotypes are ataxia and hypogonadotrophic hypogonadism

Genetics Home Reference : ²⁵ Boucher-Neuhäuser syndrome is a rare disorder that affects movement, vision, and sexual development. It is part of a continuous spectrum of neurological conditions, known as PNPLA6-related disorders, that share a genetic cause and have a combination of overlapping features. Boucher-Neuhäuser syndrome is characterized by three specific features: ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy.

UniProtKB/Swiss-Prot : ⁷⁵ Boucher-Neuhauser syndrome: An autosomal recessive disorder characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and visual impairment due to chorioretinal dystrophy. The age at onset is variable, but most patients develop 1 or more symptoms in the first decade of life. Chorioretinal dystrophy may not always be present.

Clinical features from OMIM:

215470

Search Clinical Trials , NIH Clinical Center for Boucher-Neuhauser Syndrome

Search GEO for disease gene expression data for Boucher-Neuhauser Syndrome.