MCID: BCH003
MIFTS: 28

Boucher-Neuhauser Syndrome

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

Aliases & Classifications for Boucher-Neuhauser Syndrome

MalaCards integrated aliases for Boucher-Neuhauser Syndrome:

Name: Boucher-Neuhauser Syndrome 57 75 59
Boucher Neuhauser Syndrome 29 6 40
Spinocerebellar Ataxia, Hypogonadotropic Hypogonadism, and Chorioretinal Dystrophy 57 75
Bnhs 57 75
Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism 73
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
ataxia-hypogonadism-choroidal dystrophy syndrome
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
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:

32
boucher-neuhauser syndrome:
Onset and clinical course juvenile onset progressive
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Boucher-Neuhauser Syndrome

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 boucher neuhauser syndrome, is related to ataxia - hypogonadism - choroidal dystrophy and megalocornea-mental retardation syndrome, and has symptoms including cerebellar ataxia, action tremor and scanning speech. An important gene associated with Boucher-Neuhauser Syndrome is PNPLA6 (Patatin Like Phospholipase Domain Containing 6). Affiliated tissues include neutrophil, and related phenotypes are ataxia and hypogonadotrophic hypogonadism

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.

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.

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 ataxia - hypogonadism - choroidal dystrophy 10.9
2 megalocornea-mental retardation syndrome 10.4
3 megalocornea-intellectual disability syndrome 10.4
4 hypogonadism 10.3
5 aceruloplasminemia 10.2
6 ataxia-oculomotor apraxia 3 10.2
7 retinitis 10.2
8 fundus dystrophy 10.2
9 chorioretinitis 10.2

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



Diseases related to Boucher-Neuhauser Syndrome

Symptoms & Phenotypes for Boucher-Neuhauser Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Boucher-Neuhauser Syndrome:

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 59 32 Very frequent (99-80%) HP:0001251
2 hypogonadotrophic hypogonadism 59 32 Very frequent (99-80%) HP:0000044
3 spasticity 32 occasional (7.5%) HP:0001257
4 photophobia 32 HP:0000613
5 abnormality of metabolism/homeostasis 32 HP:0001939
6 progressive visual loss 32 HP:0000529
7 intention tremor 32 HP:0002080
8 areflexia 32 HP:0001284
9 hyporeflexia 32 HP:0001265
10 cerebellar atrophy 32 HP:0001272
11 scanning speech 32 HP:0002168
12 retinal dystrophy 32 HP:0000556
13 distal amyotrophy 32 HP:0003693
14 congenital chorioretinal dystrophy 59 Very frequent (99-80%)
15 abnormal upper motor neuron morphology 32 occasional (7.5%) HP:0002127
16 chorioretinal dystrophy 32 HP:0001135
17 spinocerebellar atrophy 32 HP:0007263

UMLS symptoms related to Boucher-Neuhauser Syndrome:


cerebellar ataxia, action tremor, scanning speech

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 29 PNPLA6

Anatomical Context for Boucher-Neuhauser Syndrome

MalaCards organs/tissues related to Boucher-Neuhauser Syndrome:

41
Neutrophil

Publications for Boucher-Neuhauser Syndrome

Articles related to Boucher-Neuhauser Syndrome:

# Title Authors Year
1
Ataxia meets chorioretinal dystrophy and hypogonadism: Boucher-Neuhauser syndrome due to PNPLA6 mutations. ( 24790214 )
2014
2
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
3
Boucher-Neuhauser syndrome associated with hypocalciuric hypercalcemia. ( 7718973 )
1995

Variations for Boucher-Neuhauser Syndrome

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

75
# Symbol AA change Variation ID SNP ID
1 PNPLA6 p.Gly569Trp VAR_071092
2 PNPLA6 p.Ser1036Leu VAR_071094
3 PNPLA6 p.Thr1049Ile VAR_071095
4 PNPLA6 p.Phe1057Ser VAR_071096
5 PNPLA6 p.Val1101Met VAR_071098
6 PNPLA6 p.Pro1113Leu VAR_071099
7 PNPLA6 p.Arg1138Cys VAR_073412
8 PNPLA6 p.Ser1166Cys VAR_073413
9 PNPLA6 p.Arg1350Trp VAR_073416

ClinVar genetic disease variations for Boucher-Neuhauser Syndrome:

6
(show all 18)
# 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_006702.4(PNPLA6): c.3242G> T (p.Gly1081Val) single nucleotide variant no interpretation for the single variant GRCh37 Chromosome 19, 7622129: 7622129
16 PNPLA6 NM_006702.4(PNPLA6): c.3242G> T (p.Gly1081Val) single nucleotide variant no interpretation for the single variant GRCh38 Chromosome 19, 7557243: 7557243
17 PNPLA6 NM_006702.4(PNPLA6): c.3390G> C (p.Trp1130Cys) single nucleotide variant no interpretation for the single variant GRCh37 Chromosome 19, 7623842: 7623842
18 PNPLA6 NM_006702.4(PNPLA6): c.3390G> C (p.Trp1130Cys) single nucleotide variant no interpretation for the single variant GRCh38 Chromosome 19, 7558956: 7558956

Expression for Boucher-Neuhauser Syndrome

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

Pathways for Boucher-Neuhauser Syndrome

GO Terms for Boucher-Neuhauser Syndrome

Sources for Boucher-Neuhauser Syndrome

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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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