IEMbase 0613: TMEM165-related congenital disorder of glycosylation
Scope
| Field | Value |
|---|---|
| IEMbase ID | 613 |
| Nosology | 18.4.08.02 |
| Gene | TMEM165 |
| External IDs | OMIM:614727; OMIM:614726; ORPHA:314667 |
| Generated mapping | CANDIDATE; ALG12_Congenital_Disorder_of_Glycosylation.yaml |
| Candidate DisMech targets | None exact |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents TMEM165-CDG / CDG-IIk as an autosomal recessive disorder marked treatable, although the cached record has no treatment rows. Biochemical rows include increased type II sialotransferrins, increased ASAT/ALAT, and increased plasma creatine kinase.
Clinical and characteristic rows emphasize psychomotor delay, muscle weakness, failure to thrive, fever, obesity, osteoporosis, severe growth retardation, growth hormone deficiency, skeletal abnormalities, hepatomegaly, joint laxity, dysmorphic features, and midface hypoplasia.
DisMech phenotype coverage
ALG12_Congenital_Disorder_of_Glycosylation.yaml is a false-positive CDG-class
candidate. ALG12-CDG is an ER lipid-linked oligosaccharide assembly disorder,
whereas TMEM165-CDG is a Golgi cation/homeostasis and type II glycosylation
processing disorder with distinctive skeletal/growth biology.
No exact TMEM165-CDG target was identified locally.
Concordance and completeness
Judgement: true local gap; reject ALG12-CDG as exact coverage.
The treatability flag should be source-reviewed before curation, since the cached disorder row marks the disease treatable but has no treatment rows.
Curation actions
- Create or identify an exact TMEM165-CDG target before import.
- Reject
ALG12_Congenital_Disorder_of_Glycosylation.yamlas an exact mapping. - Preserve type II sialotransferrin, CK/transaminase, growth hormone, skeletal, osteoporosis, hepatomegaly, joint-laxity, and treatability-review prompts.