BNHS
MCID: BCH003
MIFTS: 29

Boucher-Neuhauser Syndrome (BNHS)

Categories: Endocrine diseases, Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Boucher-Neuhauser Syndrome

MalaCards integrated aliases for Boucher-Neuhauser Syndrome:

Name: Boucher-Neuhauser Syndrome 58 76 38
Boucher Neuhauser Syndrome 30 6 41
Spinocerebellar Ataxia, Hypogonadotropic Hypogonadism, and Chorioretinal Dystrophy 58 76
Bnhs 58 76
Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism 74
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome 60
Boucher-Neuhäuser Syndrome 60

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:



Summaries for Boucher-Neuhauser Syndrome

OMIM : 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.

Related Diseases for Boucher-Neuhauser Syndrome

Diseases related to Boucher-Neuhauser Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 gordon holmes syndrome 11.5
2 ataxia - hypogonadism - choroidal dystrophy 11.1
3 megalocornea-mental retardation syndrome 10.6
4 megalocornea-intellectual disability syndrome 10.6
5 hypogonadism 10.5
6 aceruloplasminemia 10.4
7 fundus dystrophy 10.4

Graphical network of the top 20 diseases related to Boucher-Neuhauser Syndrome:



Diseases related to Boucher-Neuhauser Syndrome

Symptoms & Phenotypes for Boucher-Neuhauser Syndrome

Human phenotypes related to Boucher-Neuhauser Syndrome:

60 33 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001251
2 hypogonadotrophic hypogonadism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000044
3 chorioretinal dystrophy 33 hallmark (90%) HP:0001135
4 spasticity 33 occasional (7.5%) HP:0001257
5 abnormal upper motor neuron morphology 33 occasional (7.5%) HP:0002127
6 photophobia 33 HP:0000613
7 abnormality of metabolism/homeostasis 33 HP:0001939
8 progressive visual loss 33 HP:0000529
9 intention tremor 33 HP:0002080
10 areflexia 33 HP:0001284
11 hyporeflexia 33 HP:0001265
12 cerebellar atrophy 33 HP:0001272
13 scanning speech 33 HP:0002168
14 retinal dystrophy 33 HP:0000556
15 distal amyotrophy 33 HP:0003693
16 congenital chorioretinal dystrophy 60 Very frequent (99-80%)
17 spinocerebellar atrophy 33 HP:0007263

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
intention tremor
cerebellar atrophy
scanning speech
cerebellar ataxia
spasticity (in some patients)
more
Endocrine Features:
hypogonadotropic hypogonadism
hypothalamic dysfunction
delay in secondary sexual characteristics

Genitourinary:
hypogonadism, hypogonadotropic

Laboratory Abnormalities:
decreased plasma gonadotrophin

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
sensorimotor axonal neuropathy (in some patients)

Head And Neck Eyes:
choroidal dystrophy (in most patients)
retinal dystrophy (in most patients)
visual loss, progressive (in most patients)
photophobia (in most patients)

Muscle Soft Tissue:
distal muscle wasting

Clinical features from OMIM:

215470

UMLS symptoms related to Boucher-Neuhauser Syndrome:


action tremor, scanning speech, cerebellar ataxia

Drugs & Therapeutics for Boucher-Neuhauser Syndrome

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

Genetic Tests for Boucher-Neuhauser Syndrome

Genetic tests related to Boucher-Neuhauser Syndrome:

# Genetic test Affiliating Genes
1 Boucher Neuhauser Syndrome 30 PNPLA6

Anatomical Context for Boucher-Neuhauser Syndrome

MalaCards organs/tissues related to Boucher-Neuhauser Syndrome:

42
Eye, Neutrophil

Publications for Boucher-Neuhauser Syndrome

Articles related to Boucher-Neuhauser Syndrome:

# Title Authors Year
1
CHORIORETINAL CHANGES IN A GENETICALLY CONFIRMED CASE OF BOUCHER-NEUHÄUSER SYNDROME. ( 30015775 )
2018
2
Ataxia meets chorioretinal dystrophy and hypogonadism: Boucher-Neuhauser syndrome due to PNPLA6 mutations. ( 24790214 )
2014
3
Hypogonadotrophic hypogonadism, short stature, cerebellar ataxia, rod-cone retinal dystrophy, and hypersegmented neutrophils: a novel disorder or a new variant of Boucher-Neuhauser syndrome? ( 12525550 )
2003
4
Boucher-Neuhauser syndrome associated with hypocalciuric hypercalcemia. ( 7718973 )
1995

Variations for Boucher-Neuhauser Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Boucher-Neuhauser Syndrome:

76
# Symbol AA change Variation ID SNP ID
1 PNPLA6 p.Gly578Trp VAR_071092 rs587777615
2 PNPLA6 p.Ser1045Leu VAR_071094 rs541098659
3 PNPLA6 p.Thr1058Ile VAR_071095 rs587777181
4 PNPLA6 p.Phe1066Ser VAR_071096 rs587777183
5 PNPLA6 p.Val1110Met VAR_071098 rs587777182
6 PNPLA6 p.Pro1122Leu VAR_071099 rs748506175
7 PNPLA6 p.Arg1147Cys VAR_073412 rs587777854
8 PNPLA6 p.Ser1175Cys VAR_073413
9 PNPLA6 p.Arg1359Trp VAR_073416 rs374434303

ClinVar genetic disease variations for Boucher-Neuhauser Syndrome:

6 (show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 PNPLA6 NM_006702.4(PNPLA6): c.3029C> T (p.Thr1010Ile) single nucleotide variant Pathogenic rs587777181 GRCh38 Chromosome 19, 7556502: 7556502
2 PNPLA6 NM_006702.4(PNPLA6): c.3029C> T (p.Thr1010Ile) single nucleotide variant Pathogenic rs587777181 GRCh37 Chromosome 19, 7621388: 7621388
3 PNPLA6 NM_001166111.1(PNPLA6): c.2212-1G> C single nucleotide variant Pathogenic rs606231249 GRCh38 Chromosome 19, 7551361: 7551361
4 PNPLA6 NM_001166111.1(PNPLA6): c.2212-1G> C single nucleotide variant Pathogenic rs606231249 GRCh37 Chromosome 19, 7616247: 7616247
5 PNPLA6 NM_006702.4(PNPLA6): c.3184G> A (p.Val1062Met) single nucleotide variant Pathogenic rs587777182 GRCh38 Chromosome 19, 7557185: 7557185
6 PNPLA6 NM_006702.4(PNPLA6): c.3184G> A (p.Val1062Met) single nucleotide variant Pathogenic rs587777182 GRCh37 Chromosome 19, 7622071: 7622071
7 PNPLA6 NM_006702.4(PNPLA6): c.3053T> C (p.Phe1018Ser) single nucleotide variant Pathogenic rs587777183 GRCh38 Chromosome 19, 7556526: 7556526
8 PNPLA6 NM_006702.4(PNPLA6): c.3053T> C (p.Phe1018Ser) single nucleotide variant Pathogenic rs587777183 GRCh37 Chromosome 19, 7621412: 7621412
9 PNPLA6 NM_001166111.1(PNPLA6): c.1732G> T (p.Gly578Trp) single nucleotide variant Pathogenic rs587777615 GRCh38 Chromosome 19, 7550003: 7550003
10 PNPLA6 NM_001166111.1(PNPLA6): c.1732G> T (p.Gly578Trp) single nucleotide variant Pathogenic rs587777615 GRCh37 Chromosome 19, 7614889: 7614889
11 PNPLA6 NM_006702.4(PNPLA6): c.1126dupG (p.Asp376Glyfs) duplication Pathogenic rs587777853 GRCh38 Chromosome 19, 7542058: 7542058
12 PNPLA6 NM_006702.4(PNPLA6): c.1126dupG (p.Asp376Glyfs) duplication Pathogenic rs587777853 GRCh37 Chromosome 19, 7606944: 7606944
13 PNPLA6 NM_006702.4(PNPLA6): c.3295C> T (p.Arg1099Cys) single nucleotide variant Pathogenic rs587777854 GRCh38 Chromosome 19, 7558861: 7558861
14 PNPLA6 NM_006702.4(PNPLA6): c.3295C> T (p.Arg1099Cys) single nucleotide variant Pathogenic rs587777854 GRCh37 Chromosome 19, 7623747: 7623747
15 PNPLA6 NM_001166111.1(PNPLA6): c.1519G> A (p.Ala507Thr) single nucleotide variant Uncertain significance rs375397452 GRCh37 Chromosome 19, 7607776: 7607776
16 PNPLA6 NM_001166111.1(PNPLA6): c.1519G> A (p.Ala507Thr) single nucleotide variant Uncertain significance rs375397452 GRCh38 Chromosome 19, 7542890: 7542890

Expression for Boucher-Neuhauser Syndrome

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

Pathways for Boucher-Neuhauser Syndrome

Pathways related to Boucher-Neuhauser Syndrome according to KEGG:

38
# Name Kegg Source Accession
1 Glycerophospholipid metabolism hsa00564

GO Terms for Boucher-Neuhauser Syndrome

Sources for Boucher-Neuhauser Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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