IEMbase 0635: ATP6AP1-related immunodeficiency 47 and hepatopathy
Scope
| Field | Value |
|---|---|
| IEMbase ID | 635 |
| Nosology | 18.4.04.03 |
| Gene | ATP6AP1 |
| External IDs | OMIM:300972 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | None exact; IKBKG_Ectodermal_Dysplasia_with_Immunodeficiency.yaml is a false candidate |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents X-linked ATP6AP1-related immunodeficiency 47 and hepatopathy with or without neurologic features / ATP6AP1-CDG as a disorder with unknown treatability and no treatment rows.
Biochemical rows include alkaline phosphatase and transaminases ranging from normal to high, type 2 sialotransferrin pattern, decreased ceruloplasmin, decreased copper, decreased IgG, and low-to-normal IgA and IgM. Clinical and characteristic rows include abnormal apolipoprotein CIII isoelectrofocusing, optional cutis laxa, optional leukocytosis, optional neurologic symptoms, optional exocrine pancreatic dysfunction, hepatosplenomegaly, and recurrent bacterial infections.
DisMech phenotype coverage
No exact germline ATP6AP1-CDG / immunodeficiency-hepatopathy entry was
identified. IKBKG_Ectodermal_Dysplasia_with_Immunodeficiency.yaml is an
X-linked immunodeficiency neighbor but not an exact match.
Local Granular_Cell_Tumor.yaml mentions somatic ATP6AP1/ATP6AP2 loss as a
tumor driver, but that neoplastic V-ATPase context is distinct from germline
ATP6AP1-related CDG with hepatopathy and immunodeficiency.
Concordance and completeness
Judgement: true local gap.
The candidate and local V-ATPase tumor content provide background only; neither covers the inherited ATP6AP1 biochemical, hepatic, immunologic, and neurologic phenotype profile.
Curation actions
- Do not map to IKBKG ectodermal dysplasia with immunodeficiency.
- Do not treat somatic ATP6AP1 granular-cell-tumor content as coverage for this inherited disorder.
- Preserve glycosylation, copper/ceruloplasmin, immunoglobulin, liver enzyme, hepatosplenomegaly, recurrent infection, pancreatic, neurologic, and cutis laxa prompts.