Ataxia-hypogonadism-choroidal dystrophy syndrome
Synonyms: Boucher-Neuhäuser syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ataxia-hypogonadism-choroidal dystrophy syndrome | Boucher-Neuhäuser syndrome |
| fr | Syndrome d'ataxie-hypogonadisme-dystrophie choroïdienne | Syndrome de Boucher-Neuhäuser |
| de | Ataxie-Hypogonadismus-chorioretinale Dystrophie-Syndrom | Boucher-Neuhäuser-Syndrom |
| es | Síndrome de ataxia-hipogonadismo-distrofia coroidea | Síndrome de Boucher-Neuhäuser |
| it | Atassia - ipogonadismo - distrofia coroideale | Sindrome di Boucher-Neuhäuser |
| nl | Ataxie - hypogonadisme - choroïdale dystrofie-syndroom | Syndroom van Boucher-Neuhauser |
| pt | Síndrome de ataxia-hipogonadismo-distrofia da coróide | Síndrome Boucher-Neuhäuser |
| pl | Ataksja - hypogonadyzm - dystrofia błony naczyniowej | Zespół Bouchera i Neuhäusera |
| cs | Syndrom zahrnující ataxii, hypogonadismus a choroidální dystrofii | Boucherové-Neuhäuserův syndrom · Boucher-Neuhäuserův syndrom |
| uk | Синдром атаксії-гіпогонадизму-хоріоїдальної дистрофії | Синдром Буше-Нойхаузера |
| zh | 共济失调-性腺功能减退-脉络膜营养不良综合征 | Boucher-Neuhäuser综合征 |
| tr | Ataksi-hipogonadizm-koroid distrofisi sendromu | Boucher-Neuhäuser sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 215470 | E | validated | |
| ICD-10 | G11.8 | NTBT | attributed | validated |
| MONDO | 0008980 | E | validated | |
| MeSH | C565850 | E | validated | |
| UMLS | C1859093 | E | validated | |
| GARD | 944 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:183518Hereditary ataxia
rare genetic diseases; rare neurological diseases - ORPHA:181387Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism
rare genetic diseases; rare endocrine diseases; rare infertility disorders; rare gynecological and obstetric diseases - ORPHA:716342Rare disorder with progressive predominantly chorioretinal disorder as a major feature
rare genetic diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PNPLA6 | Disease-causing germline mutation(s) in | Assessed | HGNC:16268 | ENSG00000032444 | 603197 | 19p13.2 | patatin like domain 6, lysophospholipase | 24355708[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
3 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001251 | Ataxia | |
| HP:0001135 | Chorioretinal dystrophy | |
| HP:0000044 | Hypogonadotropic hypogonadism | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1180
- This record as JSON: /data/d/1180.json