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IEMbase 0753: ABHD5-related acylglycerol acyltransferase deficiency

Scope

Field Value
IEMbase ID 753
Nosology 14.4.06.01
Nosology code IEM0660
Gene ABHD5
External IDs OMIM:275630; ORPHA:98907
Generated mapping AMBIGUOUS; exact alias match to Chanarin-Dorfman syndrome
Candidate DisMech targets Dorfman_Chanarin_Disease.yaml; Triglyceride_Storage_Disease_Type_1.yaml
Review date 2026-07-07

IEMbase phenotype signal

IEMbase labels this autosomal recessive record as ABHD5-related 1-acylglycerol-3-phosphate O-acyltransferase deficiency, with alternate names Chanarin-Dorfman syndrome, abhydrolase D5 deficiency, and neutral lipid storage disease with ichthyosis. The phenotype signal includes hepatomegaly, hepatic steatosis, ichthyosis, short stature, intellectual disability, and neonatal vacuolated lymphocytes.

DisMech phenotype coverage

Local coverage exists, but the mapper correctly exposes ambiguity. Dorfman_Chanarin_Disease.yaml is an exact local target for Chanarin-Dorfman syndrome / neutral lipid storage disease with ichthyosis. It models ABHD5 / CGI-58 deficiency, impaired ATGL coactivation, systemic triacylglycerol droplet accumulation, and phenotypes including ichthyosis, hepatic steatosis, hepatomegaly, myopathy, cataract, sensorineural hearing loss, splenomegaly, and Jordans anomaly or leukocyte lipid vacuoles.

Triglyceride_Storage_Disease_Type_1.yaml also appears to cover the same ABHD5-related neutral lipid storage disease type I identity, including ichthyosis and hepatic disease. This creates duplicate or overlapping local coverage rather than a true unmapped gap.

Concordance and completeness

Judgement: exact local coverage with duplicate-target ambiguity.

The best current target for this IEMbase record is Dorfman_Chanarin_Disease.yaml, with Triglyceride_Storage_Disease_Type_1.yaml as synonymous or duplicate context. DisMech captures the core disease mechanism and major phenotypes; IEMbase is sparser and adds a concise age-coded signal for intellectual disability, short stature, and neonatal vacuolated lymphocytes.

Curation actions

  • Treat Dorfman_Chanarin_Disease.yaml as the primary exact mapping for this IEMbase record.
  • Review Triglyceride_Storage_Disease_Type_1.yaml for duplicate or overlapping disease identity and decide whether to merge, cross-link, or distinguish the two local entries.
  • Preserve the IEMbase leukocyte vacuole, intellectual disability, and short stature prompts when refining phenotype coverage.