Trait
Abnormally large tongue
Clinical name: Macroglossia
Increased length and width of the tongue.
Summary
- Also called
- Increased size of tongue, Large tongue, Hyperplasia of the tongue, Hypertrophy of the tongue, Tongue hypertrophy
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Read the genes linked to Abnormally large tongue, and the rest of your genome, with one test.
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Get my Genome Test155 genes linked to Abnormally large tongue
Changes in these genes cause rare conditions in which Abnormally large tongue 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 |
|---|---|---|
| FIBPFGF1 intracellular binding protein | Always | In 2 conditions |
| GNSglucosamine (N-acetyl)-6-sulfatase | Always | In 1 condition |
| IDUAalpha-L-iduronidase | Always | In 2 conditions |
| IFT140intraflagellar transport 140 | Always | In 1 condition |
| IL6STinterleukin 6 cytokine family signal transducer | Always | In 1 condition |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Always | In 1 condition |
| KDM2Blysine demethylase 2B | Always | In 1 condition |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Always | In 1 condition |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Always | In 1 condition |
| RNU2-2RNA, U2 small nuclear 2 | Always | In 1 condition |
| TRA2Btransformer 2 beta homolog | Always | In 1 condition |
| ACTBactin beta | Very often (80–99%) | In 1 condition |
| AIPAHR interacting HSP90 co-chaperone | Very often (80–99%) | In 1 condition |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Very often (80–99%) | In 1 condition |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Very often (80–99%) | In 1 condition |
| CLIP2CAP-Gly domain containing linker protein 2 | Very often (80–99%) | In 1 condition |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Very often (80–99%) | In 1 condition |
| EIF4Heukaryotic translation initiation factor 4H | Very often (80–99%) | In 1 condition |
| ELNelastin | Very often (80–99%) | In 1 condition |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Very often (80–99%) | In 1 condition |
| FOXE1forkhead box E1 | Very often (80–99%) | In 1 condition |
| GPC3glypican 3 | Very often (80–99%) | In 2 conditions |
| GPC4glypican 4 | Very often (80–99%) | In 1 condition |
| GPR101G protein-coupled receptor 101 | Very often (80–99%) | In 1 condition |
| GTF2Igeneral transcription factor IIi | Very often (80–99%) | In 1 condition |
| GTF2IRD1GTF2I repeat domain containing 1 | Very often (80–99%) | In 1 condition |
| GTF2IRD2GTF2I repeat domain containing 2 | Very often (80–99%) | In 1 condition |
| HYMAIhydatidiform mole associated and imprinted | Very often (80–99%) | In 2 conditions |
| LIMK1LIM domain kinase 1 | Very often (80–99%) | In 1 condition |
| METTL27methyltransferase like 27 | Very often (80–99%) | In 1 condition |
| NCF1neutrophil cytosolic factor 1 | Very often (80–99%) | In 1 condition |
| NKX2-1NK2 homeobox 1 | Very often (80–99%) | In 1 condition |
| NKX2-5NK2 homeobox 5 | Very often (80–99%) | In 2 conditions |
| PAX8paired box 8 | Very often (80–99%) | In 4 conditions |
| PLAGL1PLAG1 like zinc finger 1 | Very often (80–99%) | In 2 conditions |
| PQBP1polyglutamine binding protein 1 | Very often (80–99%) | In 1 condition |
| PTENphosphatase and tensin homolog | Very often (80–99%) | In 2 conditions |
| RFC2replication factor C subunit 2 | Very often (80–99%) | In 1 condition |
| SLC26A4solute carrier family 26 member 4 | Very often (80–99%) | In 2 conditions |
| STX1Asyntaxin 1A | Very often (80–99%) | In 1 condition |
Show 115 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| TBL2transducin beta like 2 | Very often (80–99%) | In 1 condition |
| TMEM270transmembrane protein 270 | Very often (80–99%) | In 1 condition |
| TSHRthyroid stimulating hormone receptor | Very often (80–99%) | In 3 conditions |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Very often (80–99%) | In 2 conditions |
| VPS37DVPS37D subunit of ESCRT-I | Very often (80–99%) | In 1 condition |
| ABCC8ATP binding cassette subfamily C member 8 | Often (30–79%) | In 1 condition |
| AGAaspartylglucosaminidase | Often (30–79%) | In 2 conditions |
| ARSBarylsulfatase B | Often (30–79%) | In 1 condition |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Often (30–79%) | In 2 conditions |
| ATRXATRX chromatin remodeler | Often (30–79%) | In 3 conditions |
| CCDC47coiled-coil domain containing 47 | Often (30–79%) | In 1 condition |
| CRPPACDP-L-ribitol pyrophosphorylase A | Often (30–79%) | In 2 conditions |
| DLK1delta like non-canonical Notch ligand 1 | Often (30–79%) | In 2 conditions |
| EHMT1euchromatic histone lysine methyltransferase 1 | Often (30–79%) | In 2 conditions |
| ERLIN2ER lipid raft associated 2 | Often (30–79%) | In 2 conditions |
| FKRPfukutin related protein | Often (30–79%) | In 3 conditions |
| FOXG1forkhead box G1 | Often (30–79%) | In 1 condition |
| GAAalpha glucosidase | Often (30–79%) | In 2 conditions |
| GMPPBGDP-mannose pyrophosphorylase B | Often (30–79%) | In 1 condition |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Often (30–79%) | In 1 condition |
| GTPBP1GTP binding protein 1 | Often (30–79%) | In 1 condition |
| GTPBP2GTP binding protein 2 | Often (30–79%) | In 1 condition |
| GUSBglucuronidase beta | Often (30–79%) | In 1 condition |
| HESX1HESX homeobox 1 | Often (30–79%) | In 1 condition |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Often (30–79%) | In 2 conditions |
| HRASHRas proto-oncogene, GTPase | Often (30–79%) | In 2 conditions |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Often (30–79%) | In 1 condition |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Often (30–79%) | In 1 condition |
| LAMA2laminin subunit alpha 2 | Often (30–79%) | In 1 condition |
| LHX3LIM homeobox 3 | Often (30–79%) | In 1 condition |
| LHX4LIM homeobox 4 | Often (30–79%) | In 1 condition |
| LRRC7leucine rich repeat containing 7 | Often (30–79%) | In 1 condition |
| MBD5methyl-CpG binding domain protein 5 | Often (30–79%) | In 1 condition |
| MED13Lmediator complex subunit 13L | Often (30–79%) | In 2 conditions |
| MEG3maternally expressed 3 | Often (30–79%) | In 2 conditions |
| MFN2mitofusin 2 | Often (30–79%) | In 1 condition |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Often (30–79%) | In 1 condition |
| POGZpogo transposable element derived with ZNF domain | Often (30–79%) | In 1 condition |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Often (30–79%) | In 1 condition |
| POMKprotein O-mannose kinase | Often (30–79%) | In 1 condition |
| POMT1protein O-mannosyltransferase 1 | Often (30–79%) | In 2 conditions |
| POMT2protein O-mannosyltransferase 2 | Often (30–79%) | In 3 conditions |
| POU1F1POU class 1 homeobox 1 | Often (30–79%) | In 2 conditions |
| PRKAG2protein kinase AMP-activated non-catalytic subunit gamma 2 | Often (30–79%) | In 1 condition |
| PROP1PROP paired-like homeobox 1 | Often (30–79%) | In 1 condition |
| PSMB8proteasome 20S subunit beta 8 | Often (30–79%) | In 1 condition |
| RNF125ring finger protein 125 | Often (30–79%) | In 1 condition |
| RTL1retrotransposon Gag like 1 | Often (30–79%) | In 2 conditions |
| SETBP1SET binding protein 1 | Often (30–79%) | In 2 conditions |
| SGCGsarcoglycan gamma | Often (30–79%) | In 1 condition |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Often (30–79%) | In 1 condition |
| SNX14sorting nexin 14 | Often (30–79%) | In 2 conditions |
| TBCKTBC1 domain containing kinase | Often (30–79%) | In 2 conditions |
| TRAF3IP2TRAF3 interacting protein 2 | Often (30–79%) | In 1 condition |
| TSHBthyroid stimulating hormone subunit beta | Often (30–79%) | In 2 conditions |
| ZFP57ZFP57 zinc finger protein | Often (30–79%) | In 1 condition |
| ZFXzinc finger protein X-linked | Often (30–79%) | In 1 condition |
| AFF4ALF transcription elongation factor 4 | Sometimes (5–29%) | In 1 condition |
| ALG6ALG6 alpha-1,3-glucosyltransferase | Sometimes (5–29%) | In 1 condition |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Sometimes (5–29%) | In 1 condition |
| ARID1AAT-rich interaction domain 1A | Sometimes (5–29%) | In 1 condition |
| CACHD1cache domain containing 1 | Sometimes (5–29%) | In 1 condition |
| CDCA7cell division cycle associated 7 | Sometimes (5–29%) | In 1 condition |
| CPSF3cleavage and polyadenylation specific factor 3 | Sometimes (5–29%) | In 1 condition |
| DNMT3BDNA methyltransferase 3 beta | Sometimes (5–29%) | In 2 conditions |
| DUOX2dual oxidase 2 | Sometimes (5–29%) | In 2 conditions |
| DUOXA2dual oxidase maturation factor 2 | Sometimes (5–29%) | In 1 condition |
| FAM20AFAM20A golgi associated secretory pathway pseudokinase | Sometimes (5–29%) | In 1 condition |
| FEM1Bfem-1 homolog B | Sometimes (5–29%) | In 1 condition |
| GLB1galactosidase beta 1 | Sometimes (5–29%) | In 1 condition |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Sometimes (5–29%) | In 1 condition |
| HELLShelicase, lymphoid specific | Sometimes (5–29%) | In 1 condition |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Sometimes (5–29%) | In 1 condition |
| INSRinsulin receptor | Sometimes (5–29%) | In 1 condition |
| IPO8importin 8 | Sometimes (5–29%) | In 1 condition |
| IYDiodotyrosine deiodinase | Sometimes (5–29%) | In 1 condition |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Sometimes (5–29%) | In 1 condition |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Sometimes (5–29%) | In 1 condition |
| MAN2B1mannosidase alpha class 2B member 1 | Sometimes (5–29%) | In 3 conditions |
| MAN2C1mannosidase alpha class 2C member 1 | Sometimes (5–29%) | In 1 condition |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Sometimes (5–29%) | In 1 condition |
| NEK9NIMA related kinase 9 | Sometimes (5–29%) | In 1 condition |
| POP1POP1 ribonuclease P/MRP subunit | Sometimes (5–29%) | In 1 condition |
| RNU4-2RNA, U4 small nuclear 2 | Sometimes (5–29%) | In 1 condition |
| SLC5A5solute carrier family 5 member 5 | Sometimes (5–29%) | In 2 conditions |
| TGthyroglobulin | Sometimes (5–29%) | In 1 condition |
| TPOthyroid peroxidase | Sometimes (5–29%) | In 1 condition |
| TRMUtRNA mitochondrial 2-thiouridylase | Sometimes (5–29%) | In 1 condition |
| UHRF1ubiquitin like with PHD and ring finger domains 1 | Sometimes (5–29%) | In 1 condition |
| ZBTB24zinc finger and BTB domain containing 24 | Sometimes (5–29%) | In 1 condition |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Rarely (1–4%) | In 1 condition |
| SAA1serum amyloid A1 | Rarely (1–4%) | In 1 condition |
| SMPD1sphingomyelin phosphodiesterase 1 | Rarely (1–4%) | In 1 condition |
| AMPD2adenosine monophosphate deaminase 2 | Not recorded | In 1 condition |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Not recorded | In 1 condition |
| CUL4Bcullin 4B | Not recorded | In 1 condition |
| DVL1dishevelled segment polarity protein 1 | Not recorded | In 1 condition |
| FDX2ferredoxin 2 | Not recorded | In 1 condition |
| FUCA1alpha-L-fucosidase 1 | Not recorded | In 1 condition |
| HEXBhexosaminidase subunit beta | Not recorded | In 1 condition |
| IDSiduronate 2-sulfatase | Not recorded | In 1 condition |
| IGF2insulin like growth factor 2 | Not recorded | In 1 condition |
| INPP5Einositol polyphosphate-5-phosphatase E | Not recorded | In 1 condition |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Not recorded | In 1 condition |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Not recorded | In 1 condition |
| LIMS2LIM zinc finger domain containing 2 | Not recorded | In 1 condition |
| PEX1peroxisomal biogenesis factor 1 | Not recorded | In 1 condition |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Not recorded | In 1 condition |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Not recorded | In 1 condition |
| ROR2ROR family WNT receptor 2 | Not recorded | In 1 condition |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Not recorded | In 1 condition |
| SNIP1Smad nuclear interacting protein 1 | Not recorded | In 1 condition |
| THRAthyroid hormone receptor alpha | Not recorded | In 1 condition |
| UBE3Aubiquitin protein ligase E3A | Not recorded | In 1 condition |
| WNT5AWnt family member 5A | 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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