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IEMbase 0603: NUS1-related Nogo-B receptor deficiency

Scope

Field Value
IEMbase ID 603
Nosology 18.4.02.02
Gene NUS1
External IDs OMIM:617082; ORPHA:442835
Generated mapping UNMAPPED; best candidate Generalized_Epilepsy_with_Febrile_Seizures_Plus.yaml#GABRD
Candidate DisMech targets None exact
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents NUS1-related Nogo-B receptor deficiency, labelled NUS1-CDG and NgBR-CDG. The record is autosomal recessive, classified under disorders of multiple glycosylation pathways, has unknown treatability, and has no treatment rows.

There are no biochemical rows. Clinical rows include neonatal or infantile axial hypotonia, cortical atrophy on MRI, developmental delay, epilepsy, failure to thrive, microcephaly, retinitis pigmentosa, scoliosis, and acral spasticity.

DisMech phenotype coverage

Generalized_Epilepsy_with_Febrile_Seizures_Plus.yaml#GABRD is a weak false-positive candidate. It models GABRD/GABA-A receptor delta contribution to GEFS+ and neuronal excitation-inhibition imbalance. It does not represent NUS1, Nogo-B receptor / cis-prenyltransferase complex biology, autosomal recessive CDG, retinitis pigmentosa, cortical atrophy, microcephaly, scoliosis, or the failure-to-thrive phenotype bundle.

The local knowledge base has retinitis-pigmentosa and epilepsy modules/entries, but no exact NUS1-CDG target was identified.

Concordance and completeness

Judgement: true local gap; reject the GABRD epilepsy candidate.

The generated weak candidate reflects seizure vocabulary only. IEMbase centers a NUS1 glycosylation/dolichol-related neuroretinal syndrome with developmental and growth features, which is not covered by the local GEFS+ entry.

Curation actions

  • Create or identify an exact NUS1 / Nogo-B receptor deficiency / NgBR-CDG target before import.
  • Reject Generalized_Epilepsy_with_Febrile_Seizures_Plus.yaml#GABRD as an exact mapping.
  • Preserve cortical atrophy, retinitis pigmentosa, epilepsy, microcephaly, axial hypotonia, acral spasticity, scoliosis, developmental delay, and failure-to-thrive prompts.