IEMbase 0337: MPDU1-related Dol-P-Man utilization deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 337 |
| Nosology | 18.4.08.01 |
| Gene | MPDU1 |
| External IDs | OMIM:609180; ORPHA:79323 |
| Generated mapping | MAPPED; MPDU1-congenital_disorder_of_glycosylation.yaml |
| Candidate DisMech targets | MPDU1-congenital_disorder_of_glycosylation.yaml |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents MPDU1-CDG/CDG-If. Characteristic rows include psychomotor delay and tendon-reflex abnormalities. Additional clinical rows include broad nose, cerebral atrophy on MRI, dysmorphic features, erythroderma, feeding difficulties, growth hormone deficiency, hyperkeratosis, hypertelorism, hypotonia, ichthyosis, optic atrophy, posteriorly rotated ears, retrognathia, seizures, smooth philtrum, strabismus, thin lips, and impaired vision.
The biochemical rows include increased creatine kinase and transaminases, lipid-linked Man5GlcNAc2 and Man9GlcNAc2, type I sialotransferrins, decreased antithrombin III, and dolichol-linked Man5GlcNAc2/Man9GlcNAc2. No treatment rows are present.
DisMech phenotype coverage
The generated mapping is correct. DisMech has a dedicated MPDU1-CDG entry with biallelic MPDU1 causation, impaired use of dolichol-phosphate-mannose and dolichol-phosphate-glucose donors, truncated lipid-linked oligosaccharide accumulation, systemic hypoglycosylation, GPI-anchor involvement, and reduced alpha-dystroglycan O-mannosylation.
Local phenotype coverage includes global developmental delay, generalized hypotonia, seizures, failure to thrive, short stature, ichthyosis, buphthalmos, glaucoma, optic atrophy, abnormal facial shape, sensorineural hearing impairment, cardiomyopathy, elevated CK, biliary duct dilatation, renal cyst, thrombocytopenia, respiratory insufficiency, apnea, CDG-I transferrin pattern, and shortened lipid-linked oligosaccharides. Treatments include supportive multidisciplinary care, cardiac surveillance, and trabeculectomy for congenital glaucoma.
Concordance and completeness
Judgement: correct mapped target with high concordance.
The resources agree on MPDU1/CDG-If identity, autosomal recessive inheritance, type I glycosylation abnormality, lipid-linked oligosaccharide disruption, developmental delay, hypotonia, seizures, feeding/growth problems, skin involvement, optic/vision disease, elevated CK, and broad multisystem disease. IEMbase adds useful prompts for growth hormone deficiency, cerebral atrophy, antithrombin III, transaminases, and named Man5/Man9 lipid-linked species.
Curation actions
- Keep the mapping to
MPDU1-congenital_disorder_of_glycosylation.yaml. - Consider future enrichment with IEMbase-only growth hormone deficiency, cerebral atrophy, antithrombin III, transaminase, and granular Man5/Man9 rows after source verification.
- Treat absent IEMbase treatment rows as incomplete IEMbase coverage rather than a contradiction of local supportive and ophthalmologic management.