IEMbase 0346: ATP6V0A2-related cutis laxa type IIA
Scope
| Field | Value |
|---|---|
| IEMbase ID | 346 |
| Nosology | 18.4.01.02 |
| Gene | ATP6V0A2 |
| External IDs | OMIM:219200; OMIM:278250; ORPHA:357074 |
| Generated mapping | UNMAPPED; low candidate Peeling_Skin_Syndrome.yaml |
| Candidate DisMech targets | No exact target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents ATP6V0A2-CDG/cutis laxa type IIA, with source spelling variants including ATP6VOA2-CDG and wrinkly skin syndrome. Characteristic rows include aged appearance, abnormal apolipoprotein C-III isoelectrofocusing, cutis laxa, facial dysmorphism, joint laxity, microcephaly, osteoporosis, abnormal elastin fibers on skin histology, and a type II sialotransferrin pattern.
Additional clinical rows include amblyopia, cerebral cortical malformations, delayed fontanel closure, abnormal subcutaneous fat distribution, growth retardation, intellectual disability, myopia, and strabismus. The biochemical row is type II sialotransferrins. No treatment rows are present.
DisMech phenotype coverage
The generated UNMAPPED status is correct. The low-score Peeling Skin Syndrome candidate is a lexical skin-disease neighbor, not a mechanistic or genetic match. That file covers superficial skin peeling disorders involving genes such as CDSN, TGM5, CHST8, FLG2, CSTA, CAST, and SERPINB8, not ATP6V0A2 vesicular acidification/glycosylation disease.
No current DisMech disease file appears to cover ATP6V0A2-CDG, autosomal recessive cutis laxa type IIA, or wrinkly skin syndrome.
Concordance and completeness
Judgement: true local gap; reject the Peeling Skin Syndrome candidate.
IEMbase frames the condition as an ATP6V0A2-related CDG/cutis-laxa disorder with abnormal type II glycosylation markers, connective-tissue skin findings, neurodevelopmental involvement, ocular findings, and skeletal/bone signals. Those mechanisms and identifiers are absent from the generated candidate.
Curation actions
- Keep this record unmapped until a dedicated ATP6V0A2-CDG/cutis laxa type IIA target exists.
- Preserve ATP6V0A2 as the canonical gene symbol while noting the source label spelling ATP6VOA2.
- Use IEMbase prompts for future curation: cutis laxa/wrinkly skin, abnormal elastin fibers, aged appearance, joint laxity, osteoporosis, cerebral cortical malformations, ocular findings, and type II sialotransferrins.