Boucher-Neuhauser Syndrome (BNHS)

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Disease Ontology 12 DOID:0111265 OMIM 56 215470 KEGG 36 H02140 MeSH 43 C565850 D007006 D013132 D058499 more SNOMED-CT 67 715984007 ICD10 via Orphanet 33 G11.8

UMLS via Orphanet 72 C1859093 Orphanet 58 ORPHA1180 MedGen 41 C1859093 SNOMED-CT via HPO 68 102935005 129609000 221360009 246622003 25136009 252157006 255314001 258211005 30721006 314407005 33927004 349006 37280007 397790002 405946002 409668002 77420001 85102008 86765009 95646004 more UMLS 71 C1859093

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. PNPLA6 Ataxia describes difficulty with coordination and balance. In Boucher-Neuhäuser syndrome, it arises from a loss of cells (atrophy) in the part of the brain involved in coordinating movements (the cerebellum). Affected individuals have an unsteady walking style (gait) and frequent falls. Another key feature of Boucher-Neuhäuser syndrome is hypogonadotropic hypogonadism, which is a condition affecting the production of hormones that direct sexual development. Affected individuals have a delay in development of the typical signs of puberty, such as the growth of facial hair and deepening of the voice in males, and the start of monthly periods (menstruation) and breast development in females. Other hormone abnormalities lead to short stature in some affected individuals. The third characteristic feature of Boucher-Neuhäuser syndrome is eye abnormalities, most commonly chorioretinal dystrophy. Chorioretinal dystrophy refers to problems with the light-sensitive tissue that lines the back of the eye (the retina) and a nearby tissue layer called the choroid. These eye abnormalities lead to impaired vision. People with Boucher-Neuhäuser syndrome can also have abnormal eye movements, including involuntary side-to-side movements of the eyes (nystagmus). The key features of Boucher-Neuhäuser syndrome can begin anytime from infancy to adulthood, although at least one feature usually occurs by adolescence. Ataxia is often the initial symptom of the disorder, but vision problems or delayed puberty can be the earliest finding. Vision and movement problems worsen slowly throughout life and can result in blindness or the need for a wheelchair for mobility in the most severely affected individuals. People with Boucher-Neuhäuser syndrome can have additional medical problems, including muscle stiffness (spasticity); impaired speech (dysarthria); and difficulty processing, learning, or remembering information (cognitive impairment).

MalaCards based summary : Boucher-Neuhauser Syndrome, also known as ataxia-hypogonadism-choroidal dystrophy syndrome, is related to gordon holmes syndrome and pnpla6-related disorders, and has symptoms including scanning speech, action tremor 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, cerebellum and brain, and related phenotypes are ataxia and chorioretinal dystrophy

Disease Ontology : ¹² A syndrome characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy that has material basis in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2.

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1180 Definition A very rare autosomal recessive , slowly progressive neurodegenerative disorder characterized by the triad of cerebellar ataxia (that generally manifests at adolescence or early adulthood), chorioretinal dystrophy, which may have a later onset (up to the fifth-sixth decade) leading to variable degrees of visual impairment, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Ataxia-hypogonadism-choroidal dystrophy syndrome belongs to a clinical continuum of neurodegenerative disorders along with the clinically overlapping cerebellar ataxia-hypogonadism syndrome (see this term). Visit the Orphanet disease page for more resources.

OMIM : ⁵⁶ 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)

KEGG : ³⁶ Boucher-Neuhauser syndrome (BNS) is a rare syndrome characterized by the triad of early-onset autosomal-recessive cerebellar ataxia (ARCA), hypogonadotropic hypogonadism, and chorioretinal dystrophy. Gait ataxia in BNS has been typically reported between the first and third decades of life; later ages of onset are rare. BNS has recently been linked to autosomal-recessive mutations in the PNPLA6 gene.

UniProtKB/Swiss-Prot : ⁷³ 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.