IEMbase 0638: XYLT1-related Desbuquois dysplasia 2
Scope
| Field | Value |
|---|---|
| IEMbase ID | 638 |
| Nosology | 18.2.03.06 |
| Gene | XYLT1 |
| External IDs | OMIM:615777; ORPHA:370930 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | None exact; Geleophysic_Dysplasia.yaml#GD2 is a false candidate |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents XYLT1-related Desbuquois dysplasia 2 / XYLT1-CDG as an autosomal recessive disorder with unknown treatability and no treatment rows.
The cached record has no biochemical rows. Clinical and characteristic rows include brachydactyly, short metacarpals, short phalanges, short stature, short/wide femoral necks, "monkey wrench" femora, coronal cleft, patellar dislocation, joint laxity, flat oval face, depressed nasal bridge, optional cleft palate, optional clubfoot, optional myopia, optional obesity, and optional synophrys.
DisMech phenotype coverage
No exact XYLT1/Desbuquois dysplasia 2 entry was identified.
Geleophysic_Dysplasia.yaml#GD2 is a false candidate: local GD2 is
FBN1-related geleophysic dysplasia 2, not XYLT1-related proteoglycan-linker
biosynthesis disease. Local Multiple_Epiphyseal_Dysplasia.yaml mentions CANT1
as allelic with Desbuquois dysplasia, but that CANT1 context also does not cover
XYLT1-related Desbuquois dysplasia 2.
Concordance and completeness
Judgement: true local gap.
The local skeletal-dysplasia neighbors share short stature and hand/skeletal features but do not provide the XYLT1 disease anchor or the specific Desbuquois dysplasia 2 phenotype bundle.
Curation actions
- Do not map to FBN1-related geleophysic dysplasia 2.
- Do not treat CANT1/Desbuquois mentions in multiple epiphyseal dysplasia as coverage for XYLT1-related Desbuquois dysplasia 2.
- Preserve brachydactyly, metacarpal/phalangeal shortening, femoral-neck and monkey-wrench femur signs, patellar dislocation, coronal cleft, joint laxity, short stature, craniofacial, cleft-palate, myopia, obesity, and clubfoot prompts.