Trait
Short thumb
Hypoplasia (congenital reduction in size) of the thumb.
Summary
- Also called
- Short thumbs, Small thumbs, Hypoplastic thumb, Hypoplastic thumbs, Hypoplastic/small thumb, Thumb brachydactyly, Thumb hypoplasia
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test104 genes linked to Short thumb
Changes in these genes cause rare conditions in which Short 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 |
|---|---|---|
| ALPK3alpha kinase 3 | Always | In 1 condition |
| CREBBPCREB binding lysine acetyltransferase | Always | In 1 condition |
| EP300EP300 lysine acetyltransferase | Always | In 1 condition |
| FIG4FIG4 phosphoinositide 5-phosphatase | Always | In 1 condition |
| HOXA13homeobox A13 | Always | In 3 conditions |
| KDM6Blysine demethylase 6B | Always | In 1 condition |
| MED16mediator complex subunit 16 | Always | In 1 condition |
| RIPK4receptor interacting serine/threonine kinase 4 | Always | In 1 condition |
| RPL17ribosomal protein L17 | Always | In 1 condition |
| ADAMTS10ADAM metallopeptidase with thrombospondin type 1 motif 10 | Very often (80–99%) | In 1 condition |
| ADAMTS17ADAM metallopeptidase with thrombospondin type 1 motif 17 | Very often (80–99%) | In 1 condition |
| BHLHA9basic helix-loop-helix family member a9 | Very often (80–99%) | In 1 condition |
| BMPR1Bbone morphogenetic protein receptor type 1B | Very often (80–99%) | In 1 condition |
| EIF4A3eukaryotic translation initiation factor 4A3 | Very often (80–99%) | In 1 condition |
| FBN1fibrillin 1 | Very often (80–99%) | In 1 condition |
| FLNAfilamin A | Very often (80–99%) | In 3 conditions |
| GDF5growth differentiation factor 5 | Very often (80–99%) | In 3 conditions |
| IHHIndian hedgehog signaling molecule | Very often (80–99%) | In 1 condition |
| LTBP2latent transforming growth factor beta binding protein 2 | Very often (80–99%) | In 1 condition |
| RBM8ARNA binding motif protein 8A | Very often (80–99%) | In 1 condition |
| SALL4spalt like transcription factor 4 | Very often (80–99%) | In 4 conditions |
| TOP2BDNA topoisomerase II beta | Very often (80–99%) | In 1 condition |
| ACANaggrecan | Often (30–79%) | In 2 conditions |
| APCAPC regulator of Wnt signaling pathway | Often (30–79%) | In 1 condition |
| CHST11carbohydrate sulfotransferase 11 | Often (30–79%) | In 1 condition |
| CPLX1complexin 1 | Often (30–79%) | In 2 conditions |
| CTBP1C-terminal binding protein 1 | Often (30–79%) | In 2 conditions |
| ESCO2establishment of sister chromatid cohesion N-acetyltransferase 2 | Often (30–79%) | In 1 condition |
| FANCD2FA complementation group D2 | Often (30–79%) | In 1 condition |
| FANCFFA complementation group F | Often (30–79%) | In 1 condition |
| FGF10fibroblast growth factor 10 | Often (30–79%) | In 2 conditions |
| FGFR1fibroblast growth factor receptor 1 | Often (30–79%) | In 1 condition |
| FGFR2fibroblast growth factor receptor 2 | Often (30–79%) | In 2 conditions |
| LEF1lymphoid enhancer binding factor 1 | Often (30–79%) | In 1 condition |
| LETM1leucine zipper and EF-hand containing transmembrane protein 1 | Often (30–79%) | In 2 conditions |
| LMNB2lamin B2 | Often (30–79%) | In 1 condition |
| LRP4LDL receptor related protein 4 | Often (30–79%) | In 1 condition |
| MIR17HGmiR-17-92a-1 cluster host gene | Often (30–79%) | In 1 condition |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Often (30–79%) | In 2 conditions |
| NELFAnegative elongation factor complex member A | Often (30–79%) | In 1 condition |
Show 64 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| NSD2nuclear receptor binding SET domain protein 2 | Often (30–79%) | In 2 conditions |
| PALB2partner and localizer of BRCA2 | Often (30–79%) | In 1 condition |
| PIGGphosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) | Often (30–79%) | In 1 condition |
| PKDCCprotein kinase domain containing, cytoplasmic | Often (30–79%) | In 1 condition |
| RAD51CRAD51 paralog C | Often (30–79%) | In 1 condition |
| TBX5T-box transcription factor 5 | Often (30–79%) | In 1 condition |
| UBE2Tubiquitin conjugating enzyme E2 T | Often (30–79%) | In 1 condition |
| ADA2adenosine deaminase 2 | Sometimes (5–29%) | In 1 condition |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Sometimes (5–29%) | In 1 condition |
| BCORBCL6 corepressor | Sometimes (5–29%) | In 1 condition |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Sometimes (5–29%) | In 1 condition |
| BRCA2BRCA2 DNA repair associated | Sometimes (5–29%) | In 1 condition |
| BRIP1BRCA1 interacting DNA helicase 1 | Sometimes (5–29%) | In 1 condition |
| FANCIFA complementation group I | Sometimes (5–29%) | In 1 condition |
| FGFR3fibroblast growth factor receptor 3 | Sometimes (5–29%) | In 1 condition |
| FGFRL1fibroblast growth factor receptor like 1 | 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 |
| KDM1Alysine demethylase 1A | Sometimes (5–29%) | In 2 conditions |
| MED12mediator complex subunit 12 | Sometimes (5–29%) | In 1 condition |
| PSMD12proteasome 26S subunit, non-ATPase 12 | Sometimes (5–29%) | In 1 condition |
| RNU4ATACRNA, U4atac small nuclear | Sometimes (5–29%) | In 1 condition |
| RPL11ribosomal protein L11 | Sometimes (5–29%) | In 2 conditions |
| RPL15ribosomal protein L15 | Sometimes (5–29%) | In 1 condition |
| RPL18ribosomal protein L18 | Sometimes (5–29%) | In 1 condition |
| RPL26ribosomal protein L26 | 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 |
| RPL5ribosomal protein L5 | Sometimes (5–29%) | In 2 conditions |
| 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 |
| SF3B4splicing factor 3b subunit 4 | Sometimes (5–29%) | In 1 condition |
| SLC26A2solute carrier family 26 member 2 | Sometimes (5–29%) | In 1 condition |
| SLX4SLX4 structure-specific endonuclease subunit | Sometimes (5–29%) | In 1 condition |
| SRCAPSnf2 related CREBBP activator protein | Sometimes (5–29%) | In 1 condition |
| SVBPsmall vasohibin binding protein | Sometimes (5–29%) | In 1 condition |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Sometimes (5–29%) | In 1 condition |
| TSR2TSR2 ribosome maturation factor | Sometimes (5–29%) | In 1 condition |
| ZMYM2zinc finger MYM-type containing 2 | Sometimes (5–29%) | In 1 condition |
| ZNF699zinc finger protein 699 | Sometimes (5–29%) | In 1 condition |
| CHD7chromodomain helicase DNA binding protein 7 | Not recorded | In 1 condition |
| COL2A1collagen type II alpha 1 chain | Not recorded | In 1 condition |
| DHCR77-dehydrocholesterol reductase | Not recorded | In 1 condition |
| DHODHdihydroorotate dehydrogenase (quinone) | Not recorded | In 1 condition |
| FANCAFA complementation group A | Not recorded | In 1 condition |
| FANCEFA complementation group E | Not recorded | In 1 condition |
| MGPmatrix Gla protein | Not recorded | In 1 condition |
| RECQL4RecQ like helicase 4 | Not recorded | In 1 condition |
| SIN3ASIN3 transcription regulator family member A | Not recorded | In 1 condition |
| TFAP2Atranscription factor AP-2 alpha | Not recorded | In 1 condition |
| WIPI2WD repeat domain, phosphoinositide interacting 2 | 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.
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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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