immunodeficiency 47
Findings
No curated finding names immunodeficiency 47 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any primary immunodeficiency disease in which the cause of the disease is a mutation in the ATP6AP1 gene.
Definition from the Mondo Disease Ontology (MONDO:0010504), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Death in infancy · Infantile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
42 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal protein N-linked glycosylationHPOHP:0012347
- 13 of 13 reported patients
- Accessory spleenHPOHP:0001747
- 1 of 1 reported patient
- Arachnoid cystHPOHP:0100702
- 1 of 1 reported patient
- CholestasisHPOHP:0001396
- 2 of 2 reported patients
- Chronic diarrheaHPOHP:0002028
- 1 of 1 reported patient
- Cutis laxaHPOHP:0000973
- 3 of 3 reported patients
- Decreased circulating copper concentrationHPOHP:0011967
Show the remaining 30
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- High foreheadHPOHP:0000348
- 1 of 1 reported patient
- HypercholesterolemiaHPOHP:0003124
- 1 of 1 reported patient
- HypotelorismHPOHP:0000601
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ATP6AP1HGNC:868
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Strong · PanelApp Australia · X-linked · 2025
- Moderate · Ambry Genetics · X-linked · 2020
- Limited · Illumina · X-linked · 2021
Where it sits
Other names
6 names
Resolves to: immunodeficiency 47
- Also called
- ATP6AP1 primary immunodeficiency diseaseIMD47immunodeficiency 47, X-linked recessiveimmunodeficiency 47; IMD47immunodeficiency type 47primary immunodeficiency disease caused by mutation in ATP6AP1