Trait
Broad philtrum
Distance between the philtral ridges, measured just above the vermilion border, more than 2 standard deviations above the mean, or alternatively, an apparently increased distance between the ridges of the philtrum.
Summary
- Also called
- Increased breadth of philtrum, Increased horizontal dimension of philtrum, Increased transverse dimension of philtrum, Increased width of philtrum, Wide philtrum
- Body system
- Abnormality of head or neck
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test49 genes linked to Broad philtrum
Changes in these genes cause rare conditions in which Broad philtrum 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 |
|---|---|---|
| ALX4ALX homeobox 4 | Always | In 2 conditions |
| CDH11cadherin 11 | Always | In 1 condition |
| FGD1FYVE, RhoGEF and PH domain containing 1 | Always | In 1 condition |
| MSL2MSL complex subunit 2 | Always | In 1 condition |
| ROBO1roundabout guidance receptor 1 | Always | In 1 condition |
| TAF4TATA-box binding protein associated factor 4 | Always | In 1 condition |
| UNC13Aunc-13 homolog A | Always | In 1 condition |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Very often (80–99%) | In 1 condition |
| TMCO1transmembrane and coiled-coil domains 1 | Very often (80–99%) | In 1 condition |
| ANO1anoctamin 1 | Often (30–79%) | In 1 condition |
| ARID1AAT-rich interaction domain 1A | Often (30–79%) | In 1 condition |
| ARID1BAT-rich interaction domain 1B | Often (30–79%) | In 1 condition |
| ARID2AT-rich interaction domain 2 | Often (30–79%) | In 1 condition |
| DPF2double PHD fingers 2 | Often (30–79%) | In 2 conditions |
| KCNK9potassium two pore domain channel subfamily K member 9 | Often (30–79%) | In 1 condition |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Often (30–79%) | In 1 condition |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Often (30–79%) | In 1 condition |
| SMARCC2SWI/SNF related BAF chromatin remodeling complex subunit C2 | Often (30–79%) | In 1 condition |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Often (30–79%) | In 1 condition |
| SMARCE1SWI/SNF related BAF chromatin remodeling complex subunit E1 | Often (30–79%) | In 1 condition |
| SOX11SRY-box transcription factor 11 | Often (30–79%) | In 1 condition |
| SOX4SRY-box transcription factor 4 | Often (30–79%) | In 1 condition |
| TBL1XR1TBL1X/Y related 1 | Often (30–79%) | In 2 conditions |
| ZNF462zinc finger protein 462 | Often (30–79%) | In 2 conditions |
| AHDC1AT-hook DNA binding motif containing 1 | Sometimes (5–29%) | In 1 condition |
| ERMARDER membrane associated RNA degradation | Sometimes (5–29%) | In 1 condition |
| KMT2Dlysine methyltransferase 2D | Sometimes (5–29%) | In 1 condition |
| MARK2microtubule affinity regulating kinase 2 | Sometimes (5–29%) | In 1 condition |
| PGAP2post-GPI attachment to proteins 2 | Sometimes (5–29%) | In 1 condition |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Sometimes (5–29%) | In 1 condition |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Sometimes (5–29%) | In 1 condition |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Sometimes (5–29%) | In 1 condition |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Sometimes (5–29%) | In 1 condition |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Sometimes (5–29%) | In 1 condition |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Sometimes (5–29%) | In 1 condition |
| SNX14sorting nexin 14 | Sometimes (5–29%) | In 2 conditions |
| AP2M1adaptor related protein complex 2 subunit mu 1 | Rarely (1–4%) | In 1 condition |
| CHD2chromodomain helicase DNA binding protein 2 | Rarely (1–4%) | In 1 condition |
| H3-3AH3.3 histone A | Rarely (1–4%) | In 1 condition |
| NEXMIFneurite extension and migration factor | Rarely (1–4%) | In 1 condition |
Show 9 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| SCN1Asodium voltage-gated channel alpha subunit 1 | Rarely (1–4%) | In 1 condition |
| SLC2A1solute carrier family 2 member 1 | Rarely (1–4%) | In 1 condition |
| SLC6A1solute carrier family 6 member 1 | Rarely (1–4%) | In 1 condition |
| SPTBN1spectrin beta, non-erythrocytic 1 | Rarely (1–4%) | In 1 condition |
| SYNGAP1synaptic Ras GTPase activating protein 1 | Rarely (1–4%) | In 1 condition |
| COLEC11collectin subfamily member 11 | Not recorded | In 1 condition |
| MAFMAF bZIP transcription factor | Not recorded | In 1 condition |
| RAC3Rac family small GTPase 3 | Not recorded | In 1 condition |
| WDR35WD repeat domain 35 | 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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