Trait
Acanthocytosis
Acanthocytosis is a type of poikilocytosis characterized by the presence of spikes on the cell surface. The cells have an irregular shape resembling many-pointed stars.
Summary
- Also called
- Acanthocytes, Red cell acanthocytosis
Reference genomeGRCh38hg38
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Get my Genome Test12 genes linked to Acanthocytosis
Changes in these genes cause rare conditions in which Acanthocytosis is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| APOBapolipoprotein B | Always | In 1 condition |
| CADcarbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase | Always | In 1 condition |
| KCNN4potassium calcium-activated channel subfamily N member 4 | Always | In 1 condition |
| SPTBspectrin beta, erythrocytic | Always | In 1 condition |
| TOR1Atorsin family 1 member A | Always | In 1 condition |
| VPS13Avacuolar protein sorting 13 homolog A | Always | In 2 conditions |
| XKX-linked Kx blood group antigen, Kell and VPS13A binding protein | Always | In 1 condition |
| MTTPmicrosomal triglyceride transfer protein | Very often (80–99%) | In 2 conditions |
| PANK2pantothenate kinase 2 | Sometimes (5–29%) | In 1 condition |
| SAR1Bsecretion associated Ras related GTPase 1B | Rarely (1–4%) | In 1 condition |
| CYP4F22cytochrome P450 family 4 subfamily F member 22 | Not recorded | In 1 condition |
| GATA1GATA binding protein 1 | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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