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IEMbase 0147: PRPS1-related phosphoribosyl pyrophosphate synthetase 1 deficiency

Scope

Field Value
IEMbase ID 147
Nosology 16.2.02.01
Gene PRPS1
External IDs OMIM:311850; ORPHA:1187
Generated mapping MAPPED to Arts_syndrome.yaml
Candidate DisMech targets Arts_syndrome.yaml; broader context in PRPS1_Deficiency_Spectrum.yaml
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents this as PRPS1-related phosphoribosyl pyrophosphate synthetase 1 deficiency, with alternate labels X-linked Charcot-Marie-Tooth disease 5 and Arts syndrome. Treatability is marked unknown.

The biochemical row is decreased phosphoribosyl pyrophosphate synthetase activity across age ranges. Clinical rows include psychomotor retardation, tetraplegia, ataxia, sensorineural deafness or hearing loss, hypotonia, intellectual disability, peripheral neuropathy, optic atrophy, recurrent infections, and progressive vision loss.

DisMech phenotype coverage

Arts_syndrome.yaml is an exact MONDO/Orphanet leaf match for the severe PRPS1 deficiency presentation. It models PRPS1 loss of function, reduced PRS-I enzyme activity, impaired purine/nucleotide biosynthesis, sensorineural hearing impairment, ataxia, hypotonia, optic atrophy, recurrent infections, and related supportive and precursor-supplementation care.

PRPS1_Deficiency_Spectrum.yaml is the broader local entry for the PRPS1 deficiency continuum. It explicitly covers Arts syndrome, CMTX5, and DFN2/DFNX1, which better matches IEMbase's broad alternate-label scope.

Concordance and completeness

Judgement: generated mapping is valid for the ORPHA leaf, but the broader PRPS1 spectrum should remain secondary context.

The generated Arts syndrome mapping is acceptable because IEMbase's ORPHA code and severe clinical rows point to Arts syndrome. However, IEMbase also names X-linked CMT5, so future crosswalk work should avoid losing the broader PRPS1 deficiency continuum represented locally in PRPS1_Deficiency_Spectrum.yaml.

Curation actions

  • Keep Arts_syndrome.yaml as the exact disease-leaf target for ORPHA:1187.
  • Record PRPS1_Deficiency_Spectrum.yaml as important broader context when subtype-aware mapping becomes available.
  • No new standalone disease gap is present for the core PRPS1 deficiency phenotype signal.