Trait
Aplastic anemia
Aplastic anemia is defined as pancytopenia with a hypocellular marrow.
Summary
- Also called
- Aplastic anaemia
Reference genomeGRCh38hg38
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Get my Genome Test29 genes linked to Aplastic anemia
Changes in these genes cause rare conditions in which Aplastic anemia 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 |
|---|---|---|
| IFNGinterferon gamma | Always | In 1 condition |
| NBNnibrin | Always | In 1 condition |
| PALB2partner and localizer of BRCA2 | Always | In 1 condition |
| PRF1perforin 1 | Always | In 1 condition |
| SBDSSBDS ribosome maturation factor | Always | In 2 conditions |
| TERTtelomerase reverse transcriptase | Always | In 4 conditions |
| THPOthrombopoietin | Always | In 1 condition |
| TINF2TERF1 interacting nuclear factor 2 | Always | In 4 conditions |
| TMEM63Btransmembrane protein 63B | Always | In 1 condition |
| ACDACD shelterin complex subunit and telomerase recruitment factor | Often (30–79%) | In 1 condition |
| FANCBFA complementation group B | Often (30–79%) | In 1 condition |
| NHP2NHP2 ribonucleoprotein | Often (30–79%) | In 1 condition |
| NOP10NOP10 ribonucleoprotein | Often (30–79%) | In 1 condition |
| CD27CD27 molecule | Sometimes (5–29%) | In 1 condition |
| CLPBClpB family mitochondrial disaggregase | Sometimes (5–29%) | In 1 condition |
| DNAJC21DnaJ heat shock protein family (Hsp40) member C21 | Sometimes (5–29%) | In 2 conditions |
| EFL1elongation factor like GTPase 1 | Sometimes (5–29%) | In 1 condition |
| ELANEelastase, neutrophil expressed | Sometimes (5–29%) | In 1 condition |
| GATA2GATA binding protein 2 | Sometimes (5–29%) | In 1 condition |
| GFI1growth factor independent 1 transcriptional repressor | Sometimes (5–29%) | In 1 condition |
| SRP19signal recognition particle 19 | Sometimes (5–29%) | In 1 condition |
| SRP72signal recognition particle 72 | Sometimes (5–29%) | In 1 condition |
| TCIRG1T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 | Sometimes (5–29%) | In 1 condition |
| ANAPC1anaphase promoting complex subunit 1 | Rarely (1–4%) | In 1 condition |
| RECQL4RecQ like helicase 4 | Rarely (1–4%) | In 1 condition |
| SH2D1ASH2 domain containing 1A | Rarely (1–4%) | In 1 condition |
| XIAPX-linked inhibitor of apoptosis | Rarely (1–4%) | In 2 conditions |
| HOXA11homeobox A11 | Not recorded | In 1 condition |
| TERCtelomerase RNA component | Not recorded | In 2 conditions |
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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