Trait
Absent thumb
Absent thumb, i.e., the absence of both phalanges of a thumb and the associated soft tissues.
Summary
- Also called
- Absent thumbs, Aplasia of the thumb, Thumb aplasia
Reference genomeGRCh38hg38
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Get my Genome Test60 genes linked to Absent thumb
Changes in these genes cause rare conditions in which Absent thumb 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 |
|---|---|---|
| CUL3cullin 3 | Always | In 1 condition |
| FAAP100FA core complex associated protein 100 | Always | In 1 condition |
| FANCLFA complementation group L | Always | In 1 condition |
| FIG4FIG4 phosphoinositide 5-phosphatase | Always | In 2 conditions |
| PALB2partner and localizer of BRCA2 | Always | In 1 condition |
| RAD51RAD51 recombinase | Always | In 1 condition |
| RFWD3ring finger and WD repeat domain 3 | Always | In 1 condition |
| RIPK4receptor interacting serine/threonine kinase 4 | Always | In 2 conditions |
| RPL26ribosomal protein L26 | Always | In 2 conditions |
| XRCC2X-ray repair cross complementing 2 | Always | In 1 condition |
| FANCBFA complementation group B | Very often (80–99%) | In 1 condition |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Often (30–79%) | In 1 condition |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Often (30–79%) | In 1 condition |
| FANCCFA complementation group C | Often (30–79%) | In 1 condition |
| FANCFFA complementation group F | Often (30–79%) | In 1 condition |
| FANCIFA complementation group I | Often (30–79%) | In 1 condition |
| RAD51CRAD51 paralog C | Often (30–79%) | In 1 condition |
| RECQL4RecQ like helicase 4 | Often (30–79%) | In 2 conditions |
| RSPO2R-spondin 2 | Often (30–79%) | In 1 condition |
| SALL4spalt like transcription factor 4 | Often (30–79%) | In 2 conditions |
| SF3B4splicing factor 3b subunit 4 | Often (30–79%) | In 1 condition |
| TBX5T-box transcription factor 5 | Often (30–79%) | In 2 conditions |
| VAC14VAC14 component of PIKFYVE complex | Often (30–79%) | In 1 condition |
| ADA2adenosine deaminase 2 | Sometimes (5–29%) | In 1 condition |
| FANCD2FA complementation group D2 | Sometimes (5–29%) | In 1 condition |
| FGF10fibroblast growth factor 10 | Sometimes (5–29%) | In 1 condition |
| FGFR2fibroblast growth factor receptor 2 | Sometimes (5–29%) | In 1 condition |
| FGFR3fibroblast growth factor receptor 3 | Sometimes (5–29%) | In 1 condition |
| GATA1GATA binding protein 1 | Sometimes (5–29%) | In 1 condition |
| HEATR3HEAT repeat containing 3 | Sometimes (5–29%) | In 1 condition |
| LEF1lymphoid enhancer binding factor 1 | Sometimes (5–29%) | In 1 condition |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Sometimes (5–29%) | In 1 condition |
| RPL11ribosomal protein L11 | Sometimes (5–29%) | In 1 condition |
| RPL15ribosomal protein L15 | Sometimes (5–29%) | In 1 condition |
| RPL17ribosomal protein L17 | Sometimes (5–29%) | In 1 condition |
| RPL18ribosomal protein L18 | Sometimes (5–29%) | In 1 condition |
| RPL27ribosomal protein L27 | Sometimes (5–29%) | In 1 condition |
| RPL31ribosomal protein L31 | Sometimes (5–29%) | In 1 condition |
| RPL35ribosomal protein L35 | Sometimes (5–29%) | In 1 condition |
| RPL35Aribosomal protein L35a | Sometimes (5–29%) | In 1 condition |
Show 20 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| RPL5ribosomal protein L5 | Sometimes (5–29%) | In 1 condition |
| RPL8ribosomal protein L8 | Sometimes (5–29%) | In 1 condition |
| RPL9ribosomal protein L9 | Sometimes (5–29%) | In 1 condition |
| RPS10ribosomal protein S10 | Sometimes (5–29%) | In 1 condition |
| RPS15Aribosomal protein S15a | Sometimes (5–29%) | In 1 condition |
| RPS17ribosomal protein S17 | Sometimes (5–29%) | In 1 condition |
| RPS19ribosomal protein S19 | Sometimes (5–29%) | In 2 conditions |
| RPS20ribosomal protein S20 | Sometimes (5–29%) | In 1 condition |
| RPS24ribosomal protein S24 | Sometimes (5–29%) | In 1 condition |
| RPS26ribosomal protein S26 | Sometimes (5–29%) | In 1 condition |
| RPS27ribosomal protein S27 | Sometimes (5–29%) | In 1 condition |
| RPS28ribosomal protein S28 | Sometimes (5–29%) | In 1 condition |
| RPS29ribosomal protein S29 | Sometimes (5–29%) | In 1 condition |
| RPS7ribosomal protein S7 | Sometimes (5–29%) | In 1 condition |
| SLX4SLX4 structure-specific endonuclease subunit | Sometimes (5–29%) | In 1 condition |
| SONSON DNA and RNA binding protein | Sometimes (5–29%) | In 1 condition |
| TSR2TSR2 ribosome maturation factor | Sometimes (5–29%) | In 1 condition |
| DONSONDNA replication fork stabilization factor DONSON | Not recorded | In 1 condition |
| FANCAFA complementation group A | Not recorded | In 1 condition |
| FANCEFA complementation group E | 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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