IEMbase 0636: ATP6V1A-related autosomal recessive cutis laxa type IID
Scope
| Field | Value |
|---|---|
| IEMbase ID | 636 |
| Nosology | 18.4.02.04 |
| Gene | ATP6V1A |
| External IDs | OMIM:617403; ORPHA:357074 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | None exact; EDAR_Hypohidrotic_Ectodermal_Dysplasia.yaml#AR is a false candidate |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents ATP6V1A-related cutis laxa, autosomal recessive, type IID / ATP6V1A-CDG as an autosomal recessive disorder with unknown treatability and no treatment rows.
The biochemical row is possible abnormal serum sialotransferrins in infancy and childhood. Clinical and characteristic rows include optional cutis laxa, hypotonia, seizures, possible cardiovascular abnormalities, possible abnormal brain MRI, intellectual disability, contractures, kyphoscoliosis, marfanoid features, strabismus, entropion, hypertelorism, low-set/prominent ears, retrognathia, triangular face, and other craniofacial features.
DisMech phenotype coverage
No exact ATP6V1A cutis laxa / CDG entry was identified.
EDAR_Hypohidrotic_Ectodermal_Dysplasia.yaml#AR is a false candidate driven by
the generic "AR" subtype label and ectodermal/facial overlap, not by shared gene
or mechanism.
Local Granular_Cell_Tumor.yaml mentions ATP6V1A as a somatic V-ATPase subunit
gene mutated in a minority of tumors. That does not cover germline ATP6V1A
cutis laxa type IID.
Concordance and completeness
Judgement: true local gap.
The IEMbase record should be kept distinct from EDAR-related ectodermal dysplasia and from somatic V-ATPase tumor biology.
Curation actions
- Do not map to EDAR-related hypohidrotic ectodermal dysplasia.
- Do not treat granular-cell-tumor ATP6V1A mentions as inherited-disease coverage.
- Preserve sialotransferrin, cutis laxa, hypotonia, seizure, cardiovascular, brain MRI, contracture, kyphoscoliosis, marfanoid, ocular, and facial prompts.