IEMbase 0765: ABHD12-related PHARC syndrome
Scope
| Field | Value |
|---|---|
| IEMbase ID | 765 |
| Nosology | 14.5.01.17 |
| Nosology code | IEM0674 |
| Gene | ABHD12 |
| External IDs | OMIM:612674; ORPHA:171848 |
| Generated mapping | UNMAPPED; weak candidate PHARC_syndrome.yaml |
| Candidate DisMech targets | PHARC_syndrome.yaml |
| Review date | 2026-07-08 |
IEMbase phenotype signal
IEMbase labels this autosomal recessive record as ABHD12-related polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract syndrome, with abbreviation PHARC. The source signal is concise and matches the acronym: adult-predominant sensorineural deafness, peripheral demyelinating neuropathy, cataract, cerebellar ataxia, and pigmentary retinopathy, with some childhood or adolescent possible flags.
DisMech phenotype coverage
PHARC_syndrome.yaml is the exact local target despite the generated unmapped
status. It carries the ABHD12 gene, MONDO PHARC identity, autosomal recessive
neurodegenerative description, ABHD12 lipid hydrolase loss, abnormal
lysophosphatidylserine signaling, microglial activation/neuroinflammation,
peripheral nerve degeneration, cerebellar degeneration, auditory pathway
degeneration, retinal degeneration, and phenotypes for peripheral neuropathy,
sensorineural hearing impairment, ataxia, retinitis pigmentosa, and cataract.
Concordance and completeness
Judgement: false negative; exact local coverage exists.
The local PHARC entry is more complete mechanistically and covers all core
IEMbase phenotypes. IEMbase adds a compact age-coded emphasis on
adult-predominant hearing loss, neuropathy, and cataract, and uses
peripheral demyelinating neuropathy wording while local coverage uses broader
peripheral neuropathy / peripheral nerve degeneration.
Curation actions
- Treat
PHARC_syndrome.yamlas the exact mapping. - Consider whether demyelinating neuropathy should be explicitly represented if supported by local evidence.
- Preserve the adult-predominant age pattern in future phenotype refinements.