IEMbase 0274: HSD17B4-related D-bifunctional protein deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 274 |
| Nosology | 14.2.03.01 |
| Gene | HSD17B4 |
| External IDs | OMIM:261515; ORPHA:300 |
| Generated mapping | MAPPED to D-Bifunctional_Protein_Deficiency.yaml |
| Candidate DisMech targets | D-Bifunctional_Protein_Deficiency.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive HSD17B4-related D-bifunctional protein deficiency, with alternate labels pseudo-Zellweger syndrome and Perrault syndrome type 1. Prevalence is listed as 1:100,000. Treatability is marked unknown and the cached JSON has no treatment rows.
Characteristic clinical rows include sensorineural deafness, defective visual acuity, developmental delay, and osteopenia. Additional rows include ataxia, diminished brain auditory evoked potentials, diminished ERG response, cataract, retinitis pigmentosa, cerebral neocortical dysplasia, cerebral white-matter involvement, hypotonia, intellectual disability, seizures, spastic paresis, peripheral neuropathy, dysmorphic features, clubfoot, low nasal bridge, upslanting palpebral fissures, epiphyseal and periarticular calcific stippling, hepatomegaly, jaundice, portal hypertension, renal cysts, failure to thrive, diarrhea, and glaucoma.
The biochemical panel includes increased VLCFA, pristanic acid, bile-acid intermediates, pipecolic acid, AST/ALT, and fat-soluble vitamin abnormalities, with low or low-normal coagulation factors, DHA, and plasmalogens.
DisMech phenotype coverage
D-Bifunctional_Protein_Deficiency.yaml is the correct local target. It covers
biallelic HSD17B4 disease, impaired peroxisomal hydratase/dehydrogenase steps,
VLCFA, pristanic-acid, and bile-acid intermediate accumulation, neonatal
hypotonia, seizures, leukodystrophy, psychomotor delay, sensorineural hearing
loss, optic atrophy, craniofacial dysmorphism, HSD17B4 allelic Perrault
context, DBP subtypes, supportive care, and DHA/fat-soluble vitamin
supplementation.
Concordance and completeness
Judgement: correct mapping with high concordance.
IEMbase and DisMech agree on HSD17B4/DBP identity, autosomal recessive inheritance, Zellweger-like severe phenotype framing, sensory loss, neurodevelopmental disease, leukodystrophy/white-matter involvement, and the major peroxisomal beta-oxidation biochemical abnormalities. DisMech is richer for mechanism, subtype structure, Perrault distinction, and management.
IEMbase adds useful prompts for osteopenia, cataract/ERG/glaucoma, portal hypertension, renal cysts, skeletal/dysmorphic detail, and age-stratified lab rows. As with ACOX1, the plasmalogen and phytanic-acid directionality should be reviewed against DBP-specific sources before import, because the local entry emphasizes DBP as an isolated beta-oxidation enzyme defect rather than a generalized biogenesis disorder.
Curation actions
- Keep the mapping to
D-Bifunctional_Protein_Deficiency.yaml. - Use IEMbase's ocular, skeletal, renal, and portal-hypertension rows as enrichment prompts.
- Review plasmalogen and phytanic/pristanic directionality before adding those lab statements to the local entry.