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 56 12 58 73 36
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome 12 52 25 58
Spinocerebellar Ataxia, Hypogonadotropic Hypogonadism, and Chorioretinal Dystrophy 56 25 73
Boucher Neuhauser Syndrome 29 6 39
Bnhs 56 25 73
Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism 25 71
Boucher-Neuhäuser Syndrome 52 25
Chorioretinal Dystrophy, Spinocerebellar Ataxia and Hypogonadotropic Hypogonadism 52
Cerebellar Ataxia with Hypogonadism and Choroidal Dystrophy Syndrome 25
Ataxia - Hypogonadism - Choroidal Dystrophy 52
Bns 25


Orphanet epidemiological data:

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


autosomal recessive

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


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


Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases

External Ids:

Disease Ontology 12 DOID:0111265
OMIM 56 215470
KEGG 36 H02140
ICD10 via Orphanet 33 G11.8
UMLS via Orphanet 72 C1859093
Orphanet 58 ORPHA1180
MedGen 41 C1859093
UMLS 71 C1859093

Summaries for Boucher-Neuhauser Syndrome

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 bulimia nervosa and eating disorder, 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 brain, eye and breast, and related phenotypes are ataxia and hypogonadotrophic hypogonadism

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.

Related Diseases for Boucher-Neuhauser Syndrome

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

(show top 50) (show all 141)
# Related Disease Score Top Affiliating Genes
1 bulimia nervosa 12.0
2 eating disorder 11.7
3 anorexia nervosa 11.7
4 gordon holmes syndrome 11.6
5 megalocornea-mental retardation syndrome 10.7
6 autosomal dominant cerebellar ataxia 10.6
7 pnpla6-related disorders 10.6
8 ataxia and polyneuropathy, adult-onset 10.6
9 aceruloplasminemia 10.6
10 hypogonadism 10.6
11 hypogonadotropism 10.6
12 autosomal recessive disease 10.5
13 amenorrhea 10.5
14 retinal degeneration 10.5
15 cerebellar degeneration 10.5
16 hypogonadotropic hypogonadism 10.5
17 fundus dystrophy 10.5
18 inherited retinal disorder 10.5
19 retinitis pigmentosa 10.4
20 choroideremia 10.4
21 vitelliform macular dystrophy 10.4
22 neuroretinitis 10.4
23 hereditary spastic paraplegia 10.4
24 retinitis 10.4
25 movement disease 10.4
26 paraplegia 10.4
27 scotoma 10.4
28 pathologic nystagmus 10.4
29 hypoglycemia 10.4
30 spinocerebellar degeneration 10.4
31 triiodothyronine receptor auxiliary protein 10.3
32 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.3
33 autoimmune disease 10.3
34 neutropenia 10.3
35 glomerulonephritis 10.3
36 acute pancreatitis 10.2
37 hypereosinophilic syndrome 10.2
38 graft-versus-host disease 10.2
39 pachyonychia congenita 3 10.2
40 leukemia 10.2
41 acute kidney failure 10.2
42 vaccinia 10.2
43 kidney disease 10.2
44 ventricular fibrillation, paroxysmal familial, 1 10.1
45 cerebral artery occlusion 10.1
46 thrombocytopenia 10.1
47 hyperglycemia 10.1
48 allergic encephalomyelitis 10.1
49 suppressor of tumorigenicity 3 10.0
50 pulmonary hypertension, primary, 3 10.0

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:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
2 hypogonadotrophic hypogonadism 58 31 very rare (1%) Very frequent (99-80%) HP:0000044
3 chorioretinal dystrophy 31 very rare (1%) HP:0001135
4 abnormal upper motor neuron morphology 31 occasional (7.5%) HP:0002127
5 spasticity 31 very rare (1%) HP:0001257
6 intellectual disability, mild 31 very rare (1%) HP:0001256
7 gait ataxia 31 very rare (1%) HP:0002066
8 cerebellar atrophy 31 very rare (1%) HP:0001272
9 distal amyotrophy 31 very rare (1%) HP:0003693
10 photophobia 31 HP:0000613
11 areflexia 31 HP:0001284
12 progressive visual loss 31 HP:0000529
13 intention tremor 31 HP:0002080
14 hyporeflexia 31 HP:0001265
15 decreased circulating gonadotropin level 31 HP:0030339
16 scanning speech 31 HP:0002168
17 retinal dystrophy 31 HP:0000556
18 congenital chorioretinal dystrophy 58 Very frequent (99-80%)
19 spinocerebellar atrophy 31 HP:0007263

Symptoms via clinical synopsis from OMIM:

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

Endocrine Features:
hypogonadotropic hypogonadism
hypothalamic dysfunction
delay in secondary sexual characteristics

hypogonadism, hypogonadotropic

Laboratory Abnormalities:
decreased plasma gonadotrophin

Neurologic Central Nervous System:
intention tremor
cerebellar atrophy
scanning speech
cerebellar ataxia
spasticity (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:


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 29 PNPLA6

Anatomical Context for Boucher-Neuhauser Syndrome

MalaCards organs/tissues related to Boucher-Neuhauser Syndrome:

Brain, Eye, Breast, Cerebellum, Retina, Kidney, Lung

Publications for Boucher-Neuhauser Syndrome

Articles related to Boucher-Neuhauser Syndrome:

(show all 32)
# Title Authors PMID Year
Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome. 56 6
25033069 2014
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. 56 6
24355708 2014
Two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia: Boucher-Neuhäuser syndrome. 56 6
9321767 1997
PNPLA6-Related Disorders 6
25299038 2014
Ophthalmologic findings in a patient with cerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy. 56
7639308 1995
A new family with chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism (Boucher-Neuhäuser syndrome). 56
1906382 1991
Spinocerebellar ataxia, hypogonadotropic hypogonadism, and choroidal dystrophy (Boucher-Neuhäuser syndrome) 56
2801777 1989
Syndrome of cerebellar ataxia and hypogonadotrophic hypogonadism: evidence for pituitary gonadotrophin deficiency. 56
2494301 1989
Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism. 56
1149314 1975
Familial ataxia, hypogonadism and retinal degeneration. 56
5806782 1969
Severe chorioretinal atrophy in Boucher-Neuhauser syndrome. 61
31712030 2019
Factors associated with under-five mortality in Bhutan: an analysis of the Bhutan National Health Survey 2012. 61
30558601 2018
Lattice-Matched Epitaxial Growth of Organic Heterostructures for Integrated Optoelectronic Application. 61
28233948 2017
Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies. 61
27512013 2017
The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview. 61
25413954 2015
[Preparation and application of biotinylated anti-AIB1 moniclonal antibody]. 61
19764584 2009
The gonadotropin-releasing hormone type I receptor is expressed in the mouse cerebellum. 61
18592335 2008
[Hypogonadotropic hypogonadism discovered in a patient with cerebellar ataxia]. 61
16357818 2005
Blood-nourishing and hard-softening capsule costs less in the management of osteoarthritic knee pain: a randomized controlled trial. 61
16136214 2005
Prominent expression of spinocerebellar ataxia type-1 (SCA1) gene encoding ataxin-1 in LH-producing cells, LbetaT2. 61
15514462 2004
[Significance of neuroimaging in the diagnosis of Boucher-Neuhauser syndrome]. 61
12868401 2003
Hypogonadotrophic hypogonadism, short stature, cerebellar ataxia, rod-cone retinal dystrophy, and hypersegmented neutrophils: a novel disorder or a new variant of Boucher-Neuhauser syndrome? 61
12525550 2003
Boucher-Neuhauser syndrome associated with hypocalciuric hypercalcemia. 61
7718973 1995
Attachment of biotinylated antibody to red blood cells: antigen-binding capacity of immunoerythrocytes and their susceptibility to lysis by complement. 61
7695090 1994
BNHS (British National Health Service) age rationing: a riposte to Bates. 61
10134370 1994
Visibility and the just allocation of health care: a study of age-rationing in the British National Health Service. 61
10135591 1993
Direct in vivo biotinylation of erythrocytes as an assay for red cell survival studies. 61
1932301 1991
Preparation, characterization and biological properties of biotinylated derivatives of calmodulin. 61
1645521 1991
Metabolic behavior of cell surface biotinylated proteins. 61
2713332 1989
Selective labeling of functional groups on membrane proteins or glycoproteins using reactive biotin derivatives and 125I-streptavidin. 61
3085669 1986
Biotinylation of human C3. 61
7121468 1982
Growth of human malaria parasites in biotinylated erythrocytes. 61
7038477 1981

Variations for Boucher-Neuhauser Syndrome

ClinVar genetic disease variations for Boucher-Neuhauser Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PNPLA6 NM_006702.5(PNPLA6):c.1126dup (p.Asp376fs)duplication Pathogenic 156538 rs587777853 19:7606940-7606941 19:7542054-7542055
2 PNPLA6 NM_006702.5(PNPLA6):c.3295C>T (p.Arg1099Cys)SNV Pathogenic 156539 rs587777854 19:7623747-7623747 19:7558861-7558861
3 PNPLA6 NM_006702.5(PNPLA6):c.3029C>T (p.Thr1010Ile)SNV Pathogenic 101039 rs587777181 19:7621388-7621388 19:7556502-7556502
4 PNPLA6 NM_006702.5(PNPLA6):c.2068-1G>CSNV Pathogenic 101040 rs606231249 19:7616247-7616247 19:7551361-7551361
5 PNPLA6 NM_006702.5(PNPLA6):c.3184G>A (p.Val1062Met)SNV Pathogenic 101041 rs587777182 19:7622071-7622071 19:7557185-7557185
6 PNPLA6 NM_006702.5(PNPLA6):c.3053T>C (p.Phe1018Ser)SNV Pathogenic 101042 rs587777183 19:7621412-7621412 19:7556526-7556526
7 PNPLA6 NM_006702.5(PNPLA6):c.1588G>T (p.Gly530Trp)SNV Pathogenic 143933 rs587777615 19:7614889-7614889 19:7550003-7550003
8 PNPLA6 NM_006702.5(PNPLA6):c.2981G>C (p.Ser994Thr)SNV Uncertain significance 240694 rs377449787 19:7621340-7621340 19:7556454-7556454
9 PNPLA6 NM_006702.5(PNPLA6):c.1375G>A (p.Ala459Thr)SNV Uncertain significance 547855 rs375397452 19:7607776-7607776 19:7542890-7542890

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

# 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

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:

# Name Kegg Source Accession
1 Glycerophospholipid metabolism hsa00564

GO Terms for Boucher-Neuhauser Syndrome

Sources for Boucher-Neuhauser Syndrome

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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