Trait
Abnormality of the thumb
Clinical name: Abnormal thumb morphology
An abnormal structure of the first digit of the hand.
Summary
- Also called
- Abnormality of the thumbs, Thumb deformity
Reference genomeGRCh38hg38
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Get my Genome Test41 genes linked to Abnormality of the thumb
Changes in these genes cause rare conditions in which Abnormality of the 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 |
|---|---|---|
| SF3B4splicing factor 3b subunit 4 | Always | In 1 condition |
| BMPR1Bbone morphogenetic protein receptor type 1B | Very often (80–99%) | In 1 condition |
| BRCA1BRCA1 DNA repair associated | Very often (80–99%) | In 1 condition |
| BRCA2BRCA2 DNA repair associated | Very often (80–99%) | In 1 condition |
| BRIP1BRCA1 interacting DNA helicase 1 | Very often (80–99%) | In 1 condition |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Very often (80–99%) | In 1 condition |
| FAAP100FA core complex associated protein 100 | Very often (80–99%) | In 1 condition |
| FANCAFA complementation group A | Very often (80–99%) | In 1 condition |
| FANCBFA complementation group B | Very often (80–99%) | In 1 condition |
| FANCCFA complementation group C | Very often (80–99%) | In 1 condition |
| FANCD2FA complementation group D2 | Very often (80–99%) | In 1 condition |
| FANCEFA complementation group E | Very often (80–99%) | In 1 condition |
| FANCFFA complementation group F | Very often (80–99%) | In 1 condition |
| FANCGFA complementation group G | Very often (80–99%) | In 2 conditions |
| FANCIFA complementation group I | Very often (80–99%) | In 1 condition |
| FANCLFA complementation group L | Very often (80–99%) | In 1 condition |
| FANCMFA complementation group M | Very often (80–99%) | In 1 condition |
| GDF5growth differentiation factor 5 | Very often (80–99%) | In 1 condition |
| LMBR1limb development membrane protein 1 | Very often (80–99%) | In 1 condition |
| MAD2L2mitotic arrest deficient 2 like 2 | Very often (80–99%) | In 1 condition |
| PALB2partner and localizer of BRCA2 | Very often (80–99%) | In 1 condition |
| RAD51RAD51 recombinase | Very often (80–99%) | In 1 condition |
| RAD51CRAD51 paralog C | Very often (80–99%) | In 1 condition |
| RFWD3ring finger and WD repeat domain 3 | Very often (80–99%) | In 1 condition |
| SALL4spalt like transcription factor 4 | Very often (80–99%) | In 1 condition |
| SHHsonic hedgehog signaling molecule | Very often (80–99%) | In 1 condition |
| SLX4SLX4 structure-specific endonuclease subunit | Very often (80–99%) | In 1 condition |
| UBE2Tubiquitin conjugating enzyme E2 T | Very often (80–99%) | In 1 condition |
| XRCC2X-ray repair cross complementing 2 | Very often (80–99%) | In 1 condition |
| ACVR1activin A receptor type 1 | Often (30–79%) | In 1 condition |
| CLIC2CLIC family member 2 | Often (30–79%) | In 1 condition |
| SMOC1SPARC related modular calcium binding 1 | Often (30–79%) | 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 |
| FIBPFGF1 intracellular binding protein | Sometimes (5–29%) | In 1 condition |
| MED12mediator complex subunit 12 | Sometimes (5–29%) | In 1 condition |
| OPA3outer mitochondrial membrane lipid metabolism regulator OPA3 | Sometimes (5–29%) | In 1 condition |
| RUNX2RUNX family transcription factor 2 | Sometimes (5–29%) | In 1 condition |
| SIN3ASIN3 transcription regulator family member A | Sometimes (5–29%) | In 1 condition |
Show 1 more gene
| Gene | How often it is seen | Conditions |
|---|---|---|
| SPARTspartin | Sometimes (5–29%) | 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.
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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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