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BNHS
MCID: BCH003
MIFTS: 31
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Boucher-Neuhauser Syndrome (BNHS)
Categories:
Endocrine diseases, Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases, Reproductive diseases
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MalaCards integrated aliases for Boucher-Neuhauser Syndrome:
Characteristics:Orphanet epidemiological data:60
ataxia-hypogonadism-choroidal dystrophy syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood; OMIM:58
Inheritance:
autosomal recessive
Miscellaneous:
progressive disorder some features are variable, even within families neurologic signs onset during adolescence or young adulthood ophthalmologic signs onset in first to sixth decade some patients become wheelchair-bound HPO:33
boucher-neuhauser syndrome:
Onset and clinical course juvenile onset progressive Inheritance autosomal recessive inheritance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Eye diseases Reproductive diseases Endocrine diseases
ICD10:
35
Orphanet: 60
Rare neurological diseases
Rare eye diseases
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases
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OMIM
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58
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 boucher neuhauser syndrome, is related to gordon holmes syndrome and ataxia - hypogonadism - choroidal dystrophy, 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 : 26 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 : 76 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. |
Diseases related to Boucher-Neuhauser Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:(show all 13)
Graphical network of the top 20 diseases related to Boucher-Neuhauser Syndrome:
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Human phenotypes related to Boucher-Neuhauser Syndrome:60 33 (show all 19)
Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:215470UMLS symptoms related to Boucher-Neuhauser Syndrome:action tremor, scanning speech, cerebellar ataxia |
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MalaCards organs/tissues related to Boucher-Neuhauser Syndrome:42
Eye,
Neutrophil
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Articles related to Boucher-Neuhauser Syndrome:(show all 19)
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Genes related to Boucher-Neuhauser Syndrome (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Boucher-Neuhauser Syndrome:76
ClinVar genetic disease variations for Boucher-Neuhauser Syndrome:6 (show all 18)
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Search
GEO
for disease gene expression data for Boucher-Neuhauser Syndrome.
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Pathways related to Boucher-Neuhauser Syndrome according to KEGG:38
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