IEMbase 0349: B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
Scope
| Field | Value |
|---|---|
| IEMbase ID | 349 |
| Nosology | 18.2.03.01 |
| Gene | B4GALT7 |
| External IDs | OMIM:130070; ORPHA:75496 |
| Generated mapping | UNMAPPED; low candidate Spondylodysplastic_Ehlers-Danlos_Syndrome.yaml#spEDS-B4GALT7 |
| Candidate DisMech targets | Spondylodysplastic_Ehlers-Danlos_Syndrome.yaml#spEDS-B4GALT7 |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents B4GALT7-CDG/Ehlers-Danlos syndrome with short stature and limb anomalies, an autosomal recessive disorder. Characteristic rows include arachnodactyly, atrophic scars, dental anomalies, developmental delay, overlapping fingers, frontal bossing, hyperelastic loose skin, joint laxity, radioulnar synostosis, and normal sialotransferrins.
Additional clinical rows include advanced bone age, cataract, flat midface, large joint dislocations, low bone mineral density, proptosis, scoliosis, short stature, and talipes equinovarus. No treatment rows are present.
DisMech phenotype coverage
The generated UNMAPPED status is a false negative. DisMech has a spondylodysplastic Ehlers-Danlos syndrome file with a B4GALT7 subtype. Local coverage describes B4GALT7/B3GALT6 defects in glycosaminoglycan linker-region biosynthesis on proteoglycans, plus short stature, muscle hypotonia, skeletal abnormalities, hyperextensible skin, joint hypermobility, osteopenia, radioulnar synostosis, delayed cognitive development, craniofacial findings, and supportive surveillance.
The B4GALT7 subtype is therefore the correct local target even though the generated mapping pipeline did not promote the low-score candidate.
Concordance and completeness
Judgement: false negative; resolve to the local spEDS-B4GALT7 subtype.
The resources agree on B4GALT7 identity, autosomal recessive inheritance, proteoglycan/glycosaminoglycan-linker biology, short stature, hyperextensible or loose skin, joint laxity/hypermobility, radioulnar synostosis, delayed development, craniofacial findings, low bone mineral density/osteopenia, and skeletal involvement.
Curation actions
- Map this record to
Spondylodysplastic_Ehlers-Danlos_Syndrome.yaml#spEDS-B4GALT7. - Consider future enrichment with arachnodactyly, overlapping fingers, atrophic scars, dental anomalies, advanced bone age, cataract, proptosis, talipes equinovarus, and the normal sialotransferrin row after source verification.
- Treat absent IEMbase treatment rows as incomplete IEMbase coverage rather than a contradiction of local supportive management.