BNS
MCID: ATX021
MIFTS: 20

Ataxia - Hypogonadism - Choroidal Dystrophy (BNS)

Categories: Rare diseases

Aliases & Classifications for Ataxia - Hypogonadism - Choroidal Dystrophy

MalaCards integrated aliases for Ataxia - Hypogonadism - Choroidal Dystrophy:

Name: Ataxia - Hypogonadism - Choroidal Dystrophy 53
Boucher Neuhauser Syndrome 29 6 40
Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism 25 73
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome 53 25
Boucher-Neuhäuser Syndrome 53 25
Spinocerebellar Ataxia, Hypogonadotropic Hypogonadism, and Chorioretinal Dystrophy 25
Chorioretinal Dystrophy, Spinocerebellar Ataxia and Hypogonadotropic Hypogonadism 53
Cerebellar Ataxia with Hypogonadism and Choroidal Dystrophy Syndrome 25
Bnhs 25
Bns 25

Classifications:



External Ids:

UMLS 73 C1859093

Summaries for Ataxia - Hypogonadism - Choroidal Dystrophy

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1180Disease definitionAtaxia-hypogonadism-choroidal dystrophy syndrome is 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.

MalaCards based summary : Ataxia - Hypogonadism - Choroidal Dystrophy, also known as boucher neuhauser syndrome, is related to bulimia nervosa and boucher-neuhauser syndrome, and has symptoms including action tremor, scanning speech and cerebellar ataxia. An important gene associated with Ataxia - Hypogonadism - Choroidal Dystrophy is PNPLA6 (Patatin Like Phospholipase Domain Containing 6). Affiliated tissues include neutrophil.

Related Diseases for Ataxia - Hypogonadism - Choroidal Dystrophy

Graphical network of the top 20 diseases related to Ataxia - Hypogonadism - Choroidal Dystrophy:



Diseases related to Ataxia - Hypogonadism - Choroidal Dystrophy

Symptoms & Phenotypes for Ataxia - Hypogonadism - Choroidal Dystrophy

UMLS symptoms related to Ataxia - Hypogonadism - Choroidal Dystrophy:


action tremor, scanning speech, cerebellar ataxia

Drugs & Therapeutics for Ataxia - Hypogonadism - Choroidal Dystrophy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Ataxia - Hypogonadism - Choroidal Dystrophy

Genetic Tests for Ataxia - Hypogonadism - Choroidal Dystrophy

Genetic tests related to Ataxia - Hypogonadism - Choroidal Dystrophy:

# Genetic test Affiliating Genes
1 Boucher Neuhauser Syndrome 29 PNPLA6

Anatomical Context for Ataxia - Hypogonadism - Choroidal Dystrophy

MalaCards organs/tissues related to Ataxia - Hypogonadism - Choroidal Dystrophy:

41
Neutrophil

Publications for Ataxia - Hypogonadism - Choroidal Dystrophy

Articles related to Ataxia - Hypogonadism - Choroidal Dystrophy:

# 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 Ataxia - Hypogonadism - Choroidal Dystrophy

ClinVar genetic disease variations for Ataxia - Hypogonadism - Choroidal Dystrophy:

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 Ataxia - Hypogonadism - Choroidal Dystrophy

Search GEO for disease gene expression data for Ataxia - Hypogonadism - Choroidal Dystrophy.

Pathways for Ataxia - Hypogonadism - Choroidal Dystrophy

GO Terms for Ataxia - Hypogonadism - Choroidal Dystrophy

Sources for Ataxia - Hypogonadism - Choroidal Dystrophy

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