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IEMbase 0763: PNPLA6-related spastic paraplegia type 39

Scope

Field Value
IEMbase ID 763
Nosology 14.5.01.13
Nosology code IEM0672
Gene PNPLA6
External IDs OMIM:215470; OMIM:275400; OMIM:612020; ORPHA:139480
Generated mapping UNMAPPED; weak candidate Boucher-Neuhauser_Syndrome.yaml
Candidate DisMech targets Boucher-Neuhauser_Syndrome.yaml
Review date 2026-07-08

IEMbase phenotype signal

IEMbase labels this autosomal recessive record as PNPLA6-related spastic paraplegia type 39, with alternate names Oliver-McFarlane syndrome, Boucher-Neuhauser syndrome, and Laurence-Moon syndrome. The rows capture a PNPLA6 spectrum presentation with adult-predominant cerebellar atrophy, chorioretinal degeneration, peripheral neuropathy, spastic paraparesia or paraplegia or tetraplegia, hypogonadotropic hypogonadism, growth hormone deficiency, hypothyroidism, cognitive dysfunction, and nonprogressive cerebellar ataxia.

DisMech phenotype coverage

Boucher-Neuhauser_Syndrome.yaml is not just a weak lexical match. Although the file is named for Boucher-Neuhauser syndrome, its description explicitly models the PNPLA6-disorder spectrum, including Gordon Holmes syndrome, Oliver-McFarlane syndrome, Laurence-Moon syndrome, and spastic paraplegia type 39. It captures PNPLA6/NTE esterase loss, phospholipid homeostasis disruption, cerebellar ataxia, cerebellar atrophy, hypogonadotropic hypogonadism or anterior hypopituitarism, chorioretinal dystrophy, visual impairment, peripheral axonal neuropathy, spasticity, and cognitive impairment.

Concordance and completeness

Judgement: false negative / partial local coverage through a PNPLA6-spectrum entry.

The local target is biologically appropriate for IEMbase's broad PNPLA6 record, but the filename and primary disease label are narrower than IEMbase's spastic-paraplegia-type-39 framing. IEMbase reinforces that the local BNS entry is being used as a spectrum-level target and adds explicit GH deficiency, hypothyroidism, and spastic paraplegia/tetraplegia wording.

Curation actions

  • Treat Boucher-Neuhauser_Syndrome.yaml as meaningful PNPLA6-spectrum coverage, not as an unrelated weak candidate.
  • Consider whether DisMech should rename, alias, or cross-link the entry more explicitly as a PNPLA6 disorder spectrum / SPG39 target.
  • Preserve the IEMbase endocrine rows for growth hormone deficiency and hypothyroidism when refining subtype-level phenotype completeness.