Details of Disease

General Information of Disease (ID: DISX5763)

• Disease Name: Ataxia-hypogonadism-choroidal dystrophy syndrome
• Synonyms: ataxia - hypogonadism - choroidal dystrophy; spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy; Boucher-Neuhchuser syndrome; chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism; Boucher-Neuhauser syndrome; Boucher-Neuhuser syndrome; BNHS
• Definition: Ataxia-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.
• Disease Hierarchy:
  DIS6JNI3: Hereditary ataxia
  DISEV092: Congenital hypogonadotropic hypogonadism
  DISX5763: Ataxia-hypogonadism-choroidal dystrophy syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0008980
  MESH ID: C565850
  UMLS CUI: C1859093
  OMIM ID: 215470
  MedGen ID: 347798
  Orphanet ID: 1180
  SNOMED CT ID: 715984007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PNPLA6	TTWAQU2	Definitive	Autosomal recessive	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PNPLA6	OTT5T45Q	Definitive	Autosomal recessive	[1]

References

• [1] Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. J Med Genet. 2015 Feb;52(2):85-94. doi: 10.1136/jmedgenet-2014-102856. Epub 2014 Dec 5.