Boucher-neuhauser syndrome

Preferred Label : Boucher-neuhauser syndrome;

Symbol : BNHS;

CISMeF acronym : BNHS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy;

Description : Limber et al. (1989) recognized the association of spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy as an autonomous single-gene disorder and called it Boucher-Neuhauser syndrome. See also cerebellar ataxia and hypogonadotropic hypogonadism (212840).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the patatin-like phospholipase domain-containing protein 6 (PNPLA6, 603197.0004);

Laboratory abnormalities : Decreased plasma gonadotrophin;

Prefixed ID : #215470;

Details

Origin ID

215470;

UMLS CUI

C1859093;

Currated CISMeF NLP mapping
- Ataxia-hypogonadism-choroidal dystrophy syndrome [ORDO Disease]
- Boucher-Neuhauser syndrome [DO Concept]
- Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) [SNOMED CT concept]
- chorioretinal dystrophy, spinocerebellar ataxia, and hypogonadotropic hypogonadism [MeSH concept]
- chorioretinal dystrophy, spinocerebellar ataxia, and hypogonadotropic hypogonadism [MeSH Supplementary Concept]
DO Cross reference
- Boucher-Neuhauser syndrome [DO Concept]
Genes related to phenotype
- Patatin-like phospholipase domain-containing protein 6 [OMIM gene]
HPO term(s)
- Abnormal upper motor neuron morphology [HPO term]
- Adolescent onset [HPO term]
- Areflexia [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Chorioretinal dystrophy [HPO term]
- Decreased circulating gonadotropin concentration [HPO term]
- Distal amyotrophy [HPO term]
- Gait ataxia [HPO term]
- Hypogonadotropic hypogonadism [HPO term]
- Hyporeflexia [HPO term]
- Intellectual disability, mild [HPO term]
- Intention tremor [HPO term]
- Juvenile onset [HPO term]
- Photophobia [HPO term]
- Progressive [HPO term]
- Progressive visual loss [HPO term]
- Retinal dystrophy [HPO term]
- Scanning speech [HPO term]
- Spasticity [HPO term]
- Spinocerebellar atrophy [HPO term]
ORDO concept(s)
- Ataxia-hypogonadism-choroidal dystrophy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ataxia-hypogonadism-choroidal dystrophy syndrome [ORDO Disease]
- Boucher-Neuhauser syndrome [DO Concept]
- Cerebellar ataxia with hypogonadism and choroidal dystrophy syndrome (disorder) [SNOMED CT concept]
- chorioretinal dystrophy, spinocerebellar ataxia, and hypogonadotropic hypogonadism [MeSH Supplementary Concept]
- chorioretinal dystrophy, spinocerebellar ataxia, and hypogonadotropic hypogonadism [MeSH concept]

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