IEMbase 0383: ALG11-related Mannosyltransferase 4-5 deficiency (CDG)
Scope
| Field | Value |
|---|---|
| IEMbase ID | 383 |
| Nosology | 18.1.09.01 |
| Gene | ALG11 |
| External IDs | OMIM:613661; ORPHA:280071 |
| Generated mapping | UNMAPPED; low candidate ALG12_Congenital_Disorder_of_Glycosylation.yaml |
| Candidate DisMech targets | No exact local target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents autosomal recessive ALG11-CDG, also listed as CDG-Ip and mannosyltransferase 4-5 deficiency.
Clinical rows include psychomotor delay, strabismus, facial dysmorphism, hearing impairment, inverted nipples, optic atrophy, retinal dystrophy, axial hypotonia, cerebral atrophy, demyelination, early death, epilepsy, fat pads, feeding difficulties, high forehead, hyperreflexia, extremity hypertonia, leukocytosis, long philtrum, microcephaly, retrognathia, inspiratory stridor, and episodic vomiting. Biochemical rows include a type I sialotransferrin pattern, increased asialotransferrin and disialotransferrin, decreased tetrasialotransferrin, increased lipid-linked Man3GlcNAc2 and Man4GlcNAc2, increased serum dolichol-linked Man3GlcNAc2 and Man4GlcNAc2, and selected coagulation/protein/endocrine markers.
DisMech phenotype coverage
There is no exact local DisMech target for ALG11-CDG. The generated candidate
ALG12_Congenital_Disorder_of_Glycosylation.yaml is a CDG type I
pathway-neighbor false positive. Local ALG12-CDG models biallelic ALG12
variants and alpha-mannosyltransferase 8 deficiency, not ALG11
mannosyltransferase 4-5 deficiency.
The ALG12 file and other type I CDG files can provide general N-glycosylation context, but they should not absorb ALG11-specific lipid-linked oligosaccharide or phenotype rows.
Concordance and completeness
Judgement: true ALG11-CDG gap; reject the ALG12-CDG candidate.
The generated candidate shares CDG type I biology and some transferrin-pattern logic, but the disease gene, enzyme step, and IEMbase biochemical substrate signals are different.
Curation actions
- Keep this record unmapped until an ALG11-CDG target exists.
- Do not map to
ALG12_Congenital_Disorder_of_Glycosylation.yaml. - If curated, include type I transferrin pattern, lipid-linked and dolichol-linked Man3/Man4 rows, psychomotor delay, strabismus, hypotonia, ocular/hearing findings, feeding/vomiting, leukocytosis, and coagulation markers as review prompts.