IEMbase 0637: ATP6V1E1-related autosomal recessive cutis laxa type IIC
Scope
| Field | Value |
|---|---|
| IEMbase ID | 637 |
| Nosology | 18.4.03.03 |
| Gene | ATP6V1E1 |
| External IDs | OMIM:617402; ORPHA:357074 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | None exact; Chronic_Granulomatous_Disease.yaml#AR p47phox NCF1 is a false candidate |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents ATP6V1E1-related cutis laxa, autosomal recessive, type IIC / ATP6V1E1-CDG as an autosomal recessive disorder with unknown treatability and no treatment rows.
The biochemical row is a type 2 serum sialotransferrin pattern in infancy and childhood. Clinical and characteristic rows include cutis laxa, hypotonia, facial dysmorphism, cardiovascular abnormality, contractures, kyphoscoliosis, degenerative hip dysplasia, midline cleft palate, camptodactyly, overriding toes, strabismus, entropion, blepharophimosis, anteverted nares, saddle nose, infraorbital puffiness, saggy cheeks, prominent jaw, and dental crowding.
DisMech phenotype coverage
No exact ATP6V1E1 cutis laxa / CDG entry was identified.
Chronic_Granulomatous_Disease.yaml#AR p47phox NCF1 is a false candidate. CGD
models NADPH oxidase defects and recurrent infections; it is not a V-ATPase
cutis laxa / glycosylation disorder.
Concordance and completeness
Judgement: true local gap.
The generated candidate likely arises from the "AR" subtype label and broad immune/childhood disease vocabulary, but it has no gene, biochemical, or phenotype-specific concordance with ATP6V1E1-CDG.
Curation actions
- Do not map to chronic granulomatous disease.
- Curate ATP6V1E1 cutis laxa type IIC separately from ATP6V1A type IID if selected; the two records share V-ATPase/CDG biology but have distinct genes and subtype identities.
- Preserve type 2 sialotransferrin, cutis laxa, hypotonia, cardiovascular, skeletal/contracture, cleft-palate, ocular, dental, and facial-feature prompts.