IEMbase 0387: DPM3-related GDP-Man:Dol-P mannosyltransferase 3 deficiency (CDG)
Scope
| Field | Value |
|---|---|
| IEMbase ID | 387 |
| Nosology | 18.4.07.01 |
| Gene | DPM3 |
| External IDs | OMIM:612937; ORPHA:263494 |
| Generated mapping | UNMAPPED; low candidate Dystroglycanopathy.yaml#DPM3-related dystroglycanopathy |
| Candidate DisMech targets | Dystroglycanopathy.yaml#DPM3-related dystroglycanopathy |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive DPM3-CDG, also listed as CDG-Io and GDP-Man:Dol-P mannosyltransferase 3 deficiency.
Clinical rows include adult dilated cardiomyopathy, gait disturbance, proximal muscle weakness, pes planus, dysmorphic features, limb-girdle muscular dystrophy, psychomotor delay, and adult stroke-like episodes. Biochemical rows include increased creatine kinase, increased transaminase, type I sialotransferrin findings, decreased dolichol-P-mannose, increased dolichol-linked Man5GlcNAc2, and normal Factor XI.
DisMech phenotype coverage
The generated unmapped status is a false negative. Local
Dystroglycanopathy.yaml explicitly includes a DPM3-related
dystroglycanopathy subtype: DPM3 is described as a stabilizing subunit of
dolichol-phosphate mannose synthase, with mutations causing CDG with secondary
dystroglycanopathy, muscular dystrophy, and dilated cardiomyopathy. The same
file also includes DPM3 in the genetic findings section.
Local DisMech is stronger for shared dystroglycanopathy mechanism, alpha-dystroglycan O-mannosyl glycosylation, and supportive management. IEMbase is stronger for CDG-Io biochemical details and the DPM3-specific adult muscle, cardiac, and stroke-like phenotype rows.
Concordance and completeness
Judgement: false negative; resolve to
Dystroglycanopathy.yaml#DPM3-related dystroglycanopathy.
The resources agree on DPM3 identity, autosomal recessive inheritance, dolichol-phosphate mannose synthase involvement, secondary dystroglycanopathy/CDG framing, muscular dystrophy, proximal weakness, elevated creatine kinase, and dilated cardiomyopathy.
Curation actions
- Map this record to the DPM3-related dystroglycanopathy branch of
Dystroglycanopathy.yaml. - Consider adding IEMbase's dolichol-P-mannose, dolichol-linked Man5GlcNAc2, type I sialotransferrin, Factor XI, pes planus, gait disturbance, and stroke-like episode prompts after source verification.
- If future CDG-specific subtype anchors are added, preserve the connection to the dystroglycanopathy mechanism rather than creating duplicate disconnected disease entries.