Trait
Bulbous nose
Increased volume and globular shape of the anteroinferior aspect of the nose.
Summary
- Also called
- Potato nose
- Body system
- Abnormality of head or neck
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Bulbous nose, and the rest of your genome, with one test.
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Get my Genome Test226 genes linked to Bulbous nose
Changes in these genes cause rare conditions in which Bulbous nose 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 |
|---|---|---|
| ACTL6Bactin like 6B | Always | In 1 condition |
| AGO1argonaute RISC component 1 | Always | In 1 condition |
| ATP6V1AATPase H+ transporting V1 subunit A | Always | In 1 condition |
| BRAFB-Raf proto-oncogene, serine/threonine kinase | Always | In 1 condition |
| CDH11cadherin 11 | Always | In 1 condition |
| CDK19cyclin dependent kinase 19 | Always | In 1 condition |
| CEP57centrosomal protein 57 | Always | In 1 condition |
| COL18A1collagen type XVIII alpha 1 chain | Always | In 1 condition |
| DYNC1I2dynein cytoplasmic 1 intermediate chain 2 | Always | In 1 condition |
| EBPEBP cholestenol delta-isomerase | Always | In 1 condition |
| ECE1endothelin converting enzyme 1 | Always | In 1 condition |
| ESAMendothelial cell adhesion molecule | Always | In 1 condition |
| FBXL3F-box and leucine rich repeat protein 3 | Always | In 1 condition |
| GINS3GINS complex subunit 3 | Always | In 1 condition |
| JAG1jagged canonical Notch ligand 1 | Always | In 1 condition |
| JKAMPJNK1/MAPK8 associated membrane protein | Always | In 1 condition |
| KIF15kinesin family member 15 | Always | In 2 conditions |
| KMT2Alysine methyltransferase 2A | Always | In 1 condition |
| KRASKRas proto-oncogene, GTPase | Always | In 1 condition |
| LTBP3latent transforming growth factor beta binding protein 3 | Always | In 2 conditions |
| MAP2K1mitogen-activated protein kinase kinase 1 | Always | In 1 condition |
| MAP2K2mitogen-activated protein kinase kinase 2 | Always | In 1 condition |
| MAP3K7mitogen-activated protein kinase kinase kinase 7 | Always | In 1 condition |
| MED12mediator complex subunit 12 | Always | In 2 conditions |
| MMP2matrix metallopeptidase 2 | Always | In 1 condition |
| MRASmuscle RAS oncogene homolog | Always | In 1 condition |
| MYO18Bmyosin XVIIIB | Always | In 1 condition |
| NAV3neuron navigator 3 | Always | In 1 condition |
| RAP1GDS1Rap1 GTPase-GDP dissociation stimulator 1 | Always | In 1 condition |
| RBMXRNA binding motif protein X-linked | Always | In 2 conditions |
| SCAF4SR-related CTD associated factor 4 | Always | In 1 condition |
| SCYL2SCY1 like pseudokinase 2 | Always | In 1 condition |
| SETD5SET domain containing 5 | Always | In 1 condition |
| SLC35C1solute carrier family 35 member C1 | Always | In 1 condition |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Always | In 1 condition |
| SMSspermine synthase | Always | In 2 conditions |
| SNIP1Smad nuclear interacting protein 1 | Always | In 1 condition |
| SNX14sorting nexin 14 | Always | In 1 condition |
| SPOUT1SPOUT domain containing methyltransferase 1 | Always | In 1 condition |
| SRCAPSnf2 related CREBBP activator protein | Always | In 1 condition |
Show 186 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| SRD5A3steroid 5 alpha-reductase 3 | Always | In 1 condition |
| TBC1D24TBC1 domain family member 24 | Always | In 2 conditions |
| TOMM7translocase of outer mitochondrial membrane 7 | Always | In 1 condition |
| TRPS1transcriptional repressor GATA binding 1 | Always | In 4 conditions |
| TWIST2twist family bHLH transcription factor 2 | Always | In 3 conditions |
| UBAP2Lubiquitin associated protein 2 like | Always | In 1 condition |
| ARVCFARVCF delta catenin family member | Very often (80–99%) | In 1 condition |
| CAMTA1calmodulin binding transcription activator 1 | Very often (80–99%) | In 2 conditions |
| CCDC8coiled-coil domain containing 8 subunit of 3M complex | Very often (80–99%) | In 1 condition |
| COMTcatechol-O-methyltransferase | Very often (80–99%) | In 1 condition |
| CUL7cullin 7 | Very often (80–99%) | In 1 condition |
| EXT1exostosin glycosyltransferase 1 | Very often (80–99%) | In 1 condition |
| FMR1fragile X messenger ribonucleoprotein 1 | Very often (80–99%) | In 1 condition |
| FOXG1forkhead box G1 | Very often (80–99%) | In 2 conditions |
| GP1BBglycoprotein Ib platelet subunit beta | Very often (80–99%) | In 1 condition |
| HIRAhistone cell cycle regulator | Very often (80–99%) | In 1 condition |
| JMJD1Cjumonji domain containing 1C | Very often (80–99%) | In 1 condition |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Very often (80–99%) | In 1 condition |
| KAT6Blysine acetyltransferase 6B | Very often (80–99%) | In 2 conditions |
| LMX1BLIM homeobox transcription factor 1 beta | Very often (80–99%) | In 1 condition |
| NHEJ1non-homologous end joining factor 1 | Very often (80–99%) | In 1 condition |
| OBSL1obscurin like cytoskeletal adaptor 1 | Very often (80–99%) | In 1 condition |
| PQBP1polyglutamine binding protein 1 | Very often (80–99%) | In 3 conditions |
| RAD21RAD21 cohesin complex component | Very often (80–99%) | In 1 condition |
| RNU4ATACRNA, U4atac small nuclear | Very often (80–99%) | In 1 condition |
| RREB1ras responsive element binding protein 1 | Very often (80–99%) | In 1 condition |
| SEC24CSEC24 homolog C, COPII component | Very often (80–99%) | In 1 condition |
| SMC3structural maintenance of chromosomes 3 | Very often (80–99%) | In 1 condition |
| STXBP1syntaxin binding protein 1 | Very often (80–99%) | In 1 condition |
| TBX1T-box transcription factor 1 | Very often (80–99%) | In 2 conditions |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Very often (80–99%) | In 1 condition |
| YY1YY1 transcription factor | Very often (80–99%) | In 1 condition |
| AFF3ALF transcription elongation factor 3 | Often (30–79%) | In 1 condition |
| ALDH1A2aldehyde dehydrogenase 1 family member A2 | Often (30–79%) | In 1 condition |
| AP4B1adaptor related protein complex 4 subunit beta 1 | Often (30–79%) | In 2 conditions |
| AP4E1adaptor related protein complex 4 subunit epsilon 1 | Often (30–79%) | In 2 conditions |
| AP4M1adaptor related protein complex 4 subunit mu 1 | Often (30–79%) | In 2 conditions |
| AP4S1adaptor related protein complex 4 subunit sigma 1 | Often (30–79%) | In 2 conditions |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Often (30–79%) | In 2 conditions |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Often (30–79%) | In 1 condition |
| BORCS8BLOC-1 related complex subunit 8 | Often (30–79%) | In 1 condition |
| C2CD3C2 domain containing 3 centriole elongation regulator | Often (30–79%) | In 1 condition |
| CCNQcyclin Q | Often (30–79%) | In 1 condition |
| CLP1cleavage factor polyribonucleotide kinase subunit 1 | Often (30–79%) | In 1 condition |
| CPLX1complexin 1 | Often (30–79%) | In 1 condition |
| DLX4distal-less homeobox 4 | Often (30–79%) | In 1 condition |
| DOCK7dedicator of cytokinesis 7 | Often (30–79%) | In 2 conditions |
| DYRK1Adual specificity tyrosine phosphorylation regulated kinase 1A | Often (30–79%) | In 1 condition |
| EDEM3ER degradation enhancing alpha-mannosidase like protein 3 | Often (30–79%) | In 1 condition |
| EIF5Aeukaryotic translation initiation factor 5A | Often (30–79%) | In 1 condition |
| EXT2exostosin glycosyltransferase 2 | Often (30–79%) | In 2 conditions |
| FBN1fibrillin 1 | Often (30–79%) | In 2 conditions |
| FBXO31F-box protein 31 | Often (30–79%) | In 1 condition |
| FRA10AC1FRA10A associated CGG repeat 1 | Often (30–79%) | In 1 condition |
| GON4Lgon-4 like | Often (30–79%) | In 1 condition |
| INTS1integrator complex subunit 1 | Often (30–79%) | In 1 condition |
| KAT5lysine acetyltransferase 5 | Often (30–79%) | In 1 condition |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Often (30–79%) | In 1 condition |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Often (30–79%) | In 1 condition |
| MAN1B1mannosidase alpha class 1B member 1 | Often (30–79%) | In 1 condition |
| MED13Lmediator complex subunit 13L | Often (30–79%) | In 2 conditions |
| MYT1Lmyelin transcription factor 1 like | Often (30–79%) | In 1 condition |
| ODC1ornithine decarboxylase 1 | Often (30–79%) | In 1 condition |
| PACS1phosphofurin acidic cluster sorting protein 1 | Often (30–79%) | In 2 conditions |
| POU4F1POU class 4 homeobox 1 | Often (30–79%) | In 1 condition |
| PYCR1pyrroline-5-carboxylate reductase 1 | Often (30–79%) | In 1 condition |
| PYCR2pyrroline-5-carboxylate reductase 2 | Often (30–79%) | In 2 conditions |
| QRICH1glutamine rich 1 | Often (30–79%) | In 1 condition |
| RBSNrabenosyn, RAB effector | Often (30–79%) | In 1 condition |
| RUSC2RUN and SH3 domain containing 2 | Often (30–79%) | In 1 condition |
| SC5Dsterol-C5-desaturase | Often (30–79%) | In 1 condition |
| SHANK3SH3 and multiple ankyrin repeat domains 3 | Often (30–79%) | In 1 condition |
| SMARCA2SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | Often (30–79%) | In 1 condition |
| SPOPspeckle type BTB/POZ protein | Often (30–79%) | In 2 conditions |
| SRRM2serine/arginine repetitive matrix 2 | Often (30–79%) | In 1 condition |
| TBC1D23TBC1 domain family member 23 | Often (30–79%) | In 1 condition |
| TRAF7TNF receptor associated factor 7 | Often (30–79%) | In 1 condition |
| TUBGCP2tubulin gamma complex component 2 | Often (30–79%) | In 1 condition |
| ABCA5ATP binding cassette subfamily A member 5 | Sometimes (5–29%) | In 1 condition |
| ACTBactin beta | Sometimes (5–29%) | In 1 condition |
| ASXL3ASXL transcriptional regulator 3 | Sometimes (5–29%) | In 1 condition |
| BBS2Bardet-Biedl syndrome 2 | Sometimes (5–29%) | In 1 condition |
| CCDC47coiled-coil domain containing 47 | Sometimes (5–29%) | In 1 condition |
| CDC42cell division cycle 42 | Sometimes (5–29%) | In 2 conditions |
| CDK13cyclin dependent kinase 13 | Sometimes (5–29%) | In 1 condition |
| CLCN3Cl-/H+ antiporter 3 | Sometimes (5–29%) | In 1 condition |
| CLIC2CLIC family member 2 | Sometimes (5–29%) | In 1 condition |
| CLPBClpB family mitochondrial disaggregase | Sometimes (5–29%) | In 1 condition |
| COL1A2collagen type I alpha 2 chain | Sometimes (5–29%) | In 1 condition |
| CSF1Rcolony stimulating factor 1 receptor | Sometimes (5–29%) | In 1 condition |
| CUX1cut like homeobox 1 | Sometimes (5–29%) | In 1 condition |
| DHRS3dehydrogenase/reductase 3 | Sometimes (5–29%) | In 1 condition |
| DOT1LDOT1 like histone lysine methyltransferase | Sometimes (5–29%) | In 1 condition |
| EXTL3exostosin like glycosyltransferase 3 | Sometimes (5–29%) | In 1 condition |
| FBXO11F-box protein 11 | Sometimes (5–29%) | In 1 condition |
| FBXO22F-box protein 22 | Sometimes (5–29%) | In 1 condition |
| GTF3C3general transcription factor IIIC subunit 3 | Sometimes (5–29%) | In 1 condition |
| H4C5H4 clustered histone 5 | Sometimes (5–29%) | In 1 condition |
| HK1hexokinase 1 | Sometimes (5–29%) | In 1 condition |
| JARID2jumonji and AT-rich interaction domain containing 2 | Sometimes (5–29%) | In 1 condition |
| KATNB1katanin regulatory subunit B1 | Sometimes (5–29%) | In 1 condition |
| KCNJ2potassium inwardly rectifying channel subfamily J member 2 | Sometimes (5–29%) | In 2 conditions |
| KCNJ5potassium inwardly rectifying channel subfamily J member 5 | Sometimes (5–29%) | In 1 condition |
| KDM4Blysine demethylase 4B | Sometimes (5–29%) | In 1 condition |
| KLHL20kelch like family member 20 | Sometimes (5–29%) | In 1 condition |
| KMT2Blysine methyltransferase 2B | Sometimes (5–29%) | In 3 conditions |
| KMT2Dlysine methyltransferase 2D | Sometimes (5–29%) | In 1 condition |
| MARK2microtubule affinity regulating kinase 2 | Sometimes (5–29%) | In 1 condition |
| MDGA2MAM domain containing glycosylphosphatidylinositol anchor 2 | Sometimes (5–29%) | In 1 condition |
| MED12Lmediator complex subunit 12L | Sometimes (5–29%) | In 1 condition |
| MED16mediator complex subunit 16 | Sometimes (5–29%) | In 1 condition |
| MESDmesoderm development LRP chaperone | Sometimes (5–29%) | In 1 condition |
| MIPEPmitochondrial intermediate peptidase | Sometimes (5–29%) | In 1 condition |
| MTX2metaxin 2 | Sometimes (5–29%) | In 1 condition |
| NHSNHS actin remodeling regulator | Sometimes (5–29%) | In 1 condition |
| NKX6-2NK6 homeobox 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 |
| PGM2L1phosphoglucomutase 2 like 1 | 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 |
| PORcytochrome p450 oxidoreductase | Sometimes (5–29%) | In 1 condition |
| RAP1BRAP1B, member of RAS oncogene family | Sometimes (5–29%) | In 1 condition |
| REREarginine-glutamic acid dipeptide repeats | Sometimes (5–29%) | In 1 condition |
| SEPHS1selenophosphate synthetase 1 | Sometimes (5–29%) | In 1 condition |
| SIM1SIM bHLH transcription factor 1 | Sometimes (5–29%) | In 1 condition |
| SLX4SLX4 structure-specific endonuclease subunit | Sometimes (5–29%) | In 1 condition |
| SMARCD1SWI/SNF related BAF chromatin remodeling complex subunit D1 | Sometimes (5–29%) | In 1 condition |
| SMC5structural maintenance of chromosomes 5 | Sometimes (5–29%) | In 1 condition |
| SMG8SMG8 nonsense mediated mRNA decay factor | Sometimes (5–29%) | In 1 condition |
| SMPD4sphingomyelin phosphodiesterase 4 | Sometimes (5–29%) | In 1 condition |
| SPENspen family transcriptional repressor | Sometimes (5–29%) | In 1 condition |
| SPTBN1spectrin beta, non-erythrocytic 1 | Sometimes (5–29%) | In 1 condition |
| TAF1TATA-box binding protein associated factor 1 | Sometimes (5–29%) | In 2 conditions |
| TBCBtubulin folding cofactor B | Sometimes (5–29%) | In 1 condition |
| TBCKTBC1 domain containing kinase | Sometimes (5–29%) | In 2 conditions |
| TBX4T-box transcription factor 4 | Sometimes (5–29%) | In 1 condition |
| TRIOtrio Rho guanine nucleotide exchange factor | Sometimes (5–29%) | In 1 condition |
| TRPM3transient receptor potential cation channel subfamily M member 3 | Sometimes (5–29%) | In 1 condition |
| WACWW domain containing adaptor with coiled-coil | Sometimes (5–29%) | In 3 conditions |
| WDR62WD repeat domain 62 | Sometimes (5–29%) | In 1 condition |
| WDR83OSWD repeat domain 83 opposite strand | Sometimes (5–29%) | In 1 condition |
| ZFXzinc finger protein X-linked | Sometimes (5–29%) | In 1 condition |
| ZMYM2zinc finger MYM-type containing 2 | Sometimes (5–29%) | In 1 condition |
| ZNF292zinc finger protein 292 | Sometimes (5–29%) | In 1 condition |
| CNTNAP2contactin associated protein 2 | Rarely (1–4%) | In 1 condition |
| RNU4-2RNA, U4 small nuclear 2 | Rarely (1–4%) | In 1 condition |
| ALDH6A1aldehyde dehydrogenase 6 family member A1 | Not recorded | In 1 condition |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Not recorded | In 1 condition |
| ATN1atrophin 1 | Not recorded | In 1 condition |
| CEP55centrosomal protein 55 | Not recorded | In 1 condition |
| CITcitron rho-interacting serine/threonine kinase | Not recorded | In 1 condition |
| COL11A2collagen type XI alpha 2 chain | Not recorded | In 1 condition |
| CPT2carnitine palmitoyltransferase 2 | Not recorded | In 1 condition |
| CUL4Bcullin 4B | Not recorded | In 1 condition |
| DDX3XDEAD-box helicase 3 X-linked | Not recorded | In 1 condition |
| DGCR2DiGeorge syndrome critical region gene 2 | Not recorded | In 1 condition |
| DGCR6DiGeorge syndrome critical region gene 6 | Not recorded | In 1 condition |
| DGCR8DGCR8 microprocessor complex subunit | Not recorded | In 1 condition |
| DOCK6dedicator of cytokinesis 6 | Not recorded | In 1 condition |
| ECEL1endothelin converting enzyme like 1 | Not recorded | In 1 condition |
| EFEMP2EGF-like fibulin extracellular matrix protein 2 | Not recorded | In 1 condition |
| ESS2ess-2 spliceosome associated protein | Not recorded | In 1 condition |
| FREM1FRAS1 related extracellular matrix 1 | Not recorded | In 1 condition |
| GJA5gap junction protein alpha 5 | Not recorded | In 1 condition |
| GJA8gap junction protein alpha 8 | Not recorded | In 1 condition |
| HECW2HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 | Not recorded | In 1 condition |
| HUWE1HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 | Not recorded | In 1 condition |
| KDM5Blysine demethylase 5B | Not recorded | In 1 condition |
| KIFBPkinesin family binding protein | Not recorded | In 1 condition |
| MBD5methyl-CpG binding domain protein 5 | Not recorded | In 1 condition |
| MPDZmultiple PDZ domain crumbs cell polarity complex component | Not recorded | In 1 condition |
| NANSN-acetylneuraminate synthase | Not recorded | In 1 condition |
| SATB2SATB homeobox 2 | Not recorded | In 1 condition |
| SLC25A46solute carrier family 25 member 46 | Not recorded | In 1 condition |
| SOX5SRY-box transcription factor 5 | Not recorded | In 1 condition |
| SPRTNSprT-like N-terminal domain | Not recorded | In 1 condition |
| STAG2STAG2 cohesin complex component | Not recorded | In 1 condition |
| TCF20transcription factor 20 | Not recorded | In 1 condition |
| TONSLtonsoku like, DNA repair protein | Not recorded | In 1 condition |
| TRRAPtransformation/transcription domain associated protein | Not recorded | In 1 condition |
| UNC80unc-80 subunit of NALCN channel complex | Not recorded | In 1 condition |
| USP9Xubiquitin specific peptidase 9 X-linked | 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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