Træk
Abnormally large tongue
Klinisk navn: Macroglossia
Increased length and width of the tongue.
Resumé
- Også kaldet
- Increased size of tongue, Large tongue, Hyperplasia of the tongue, Hypertrophy of the tongue, Tongue hypertrophy
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
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Bestil min Genome Test155 gener knyttet til Abnormally large tongue
Ændringer i disse gener forårsager sjældne tilstande, hvor Abnormally large tongue ses. De fleste med dette træk har ingen af disse tilstande, og et gen på denne liste siger intet om nogens eget genom.
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| FIBPFGF1 intracellular binding protein | Altid | I 2 tilstande |
| GNSglucosamine (N-acetyl)-6-sulfatase | Altid | I 1 tilstand |
| IDUAalpha-L-iduronidase | Altid | I 2 tilstande |
| IFT140intraflagellar transport 140 | Altid | I 1 tilstand |
| IL6STinterleukin 6 cytokine family signal transducer | Altid | I 1 tilstand |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Altid | I 1 tilstand |
| KDM2Blysine demethylase 2B | Altid | I 1 tilstand |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Altid | I 1 tilstand |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Altid | I 1 tilstand |
| RNU2-2RNA, U2 small nuclear 2 | Altid | I 1 tilstand |
| TRA2Btransformer 2 beta homolog | Altid | I 1 tilstand |
| ACTBactin beta | Meget ofte (80–99 %) | I 1 tilstand |
| AIPAHR interacting HSP90 co-chaperone | Meget ofte (80–99 %) | I 1 tilstand |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Meget ofte (80–99 %) | I 1 tilstand |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Meget ofte (80–99 %) | I 1 tilstand |
| CLIP2CAP-Gly domain containing linker protein 2 | Meget ofte (80–99 %) | I 1 tilstand |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Meget ofte (80–99 %) | I 1 tilstand |
| EIF4Heukaryotic translation initiation factor 4H | Meget ofte (80–99 %) | I 1 tilstand |
| ELNelastin | Meget ofte (80–99 %) | I 1 tilstand |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Meget ofte (80–99 %) | I 1 tilstand |
| FOXE1forkhead box E1 | Meget ofte (80–99 %) | I 1 tilstand |
| GPC3glypican 3 | Meget ofte (80–99 %) | I 2 tilstande |
| GPC4glypican 4 | Meget ofte (80–99 %) | I 1 tilstand |
| GPR101G protein-coupled receptor 101 | Meget ofte (80–99 %) | I 1 tilstand |
| GTF2Igeneral transcription factor IIi | Meget ofte (80–99 %) | I 1 tilstand |
| GTF2IRD1GTF2I repeat domain containing 1 | Meget ofte (80–99 %) | I 1 tilstand |
| GTF2IRD2GTF2I repeat domain containing 2 | Meget ofte (80–99 %) | I 1 tilstand |
| HYMAIhydatidiform mole associated and imprinted | Meget ofte (80–99 %) | I 2 tilstande |
| LIMK1LIM domain kinase 1 | Meget ofte (80–99 %) | I 1 tilstand |
| METTL27methyltransferase like 27 | Meget ofte (80–99 %) | I 1 tilstand |
| NCF1neutrophil cytosolic factor 1 | Meget ofte (80–99 %) | I 1 tilstand |
| NKX2-1NK2 homeobox 1 | Meget ofte (80–99 %) | I 1 tilstand |
| NKX2-5NK2 homeobox 5 | Meget ofte (80–99 %) | I 2 tilstande |
| PAX8paired box 8 | Meget ofte (80–99 %) | I 4 tilstande |
| PLAGL1PLAG1 like zinc finger 1 | Meget ofte (80–99 %) | I 2 tilstande |
| PQBP1polyglutamine binding protein 1 | Meget ofte (80–99 %) | I 1 tilstand |
| PTENphosphatase and tensin homolog | Meget ofte (80–99 %) | I 2 tilstande |
| RFC2replication factor C subunit 2 | Meget ofte (80–99 %) | I 1 tilstand |
| SLC26A4solute carrier family 26 member 4 | Meget ofte (80–99 %) | I 2 tilstande |
| STX1Asyntaxin 1A | Meget ofte (80–99 %) | I 1 tilstand |
Vis 115 gener mere
| Gen | Hvor ofte det ses | Tilstande |
|---|---|---|
| TBL2transducin beta like 2 | Meget ofte (80–99 %) | I 1 tilstand |
| TMEM270transmembrane protein 270 | Meget ofte (80–99 %) | I 1 tilstand |
| TSHRthyroid stimulating hormone receptor | Meget ofte (80–99 %) | I 3 tilstande |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Meget ofte (80–99 %) | I 2 tilstande |
| VPS37DVPS37D subunit of ESCRT-I | Meget ofte (80–99 %) | I 1 tilstand |
| ABCC8ATP binding cassette subfamily C member 8 | Ofte (30–79 %) | I 1 tilstand |
| AGAaspartylglucosaminidase | Ofte (30–79 %) | I 2 tilstande |
| ARSBarylsulfatase B | Ofte (30–79 %) | I 1 tilstand |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Ofte (30–79 %) | I 2 tilstande |
| ATRXATRX chromatin remodeler | Ofte (30–79 %) | I 3 tilstande |
| CCDC47coiled-coil domain containing 47 | Ofte (30–79 %) | I 1 tilstand |
| CRPPACDP-L-ribitol pyrophosphorylase A | Ofte (30–79 %) | I 2 tilstande |
| DLK1delta like non-canonical Notch ligand 1 | Ofte (30–79 %) | I 2 tilstande |
| EHMT1euchromatic histone lysine methyltransferase 1 | Ofte (30–79 %) | I 2 tilstande |
| ERLIN2ER lipid raft associated 2 | Ofte (30–79 %) | I 2 tilstande |
| FKRPfukutin related protein | Ofte (30–79 %) | I 3 tilstande |
| FOXG1forkhead box G1 | Ofte (30–79 %) | I 1 tilstand |
| GAAalpha glucosidase | Ofte (30–79 %) | I 2 tilstande |
| GMPPBGDP-mannose pyrophosphorylase B | Ofte (30–79 %) | I 1 tilstand |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Ofte (30–79 %) | I 1 tilstand |
| GTPBP1GTP binding protein 1 | Ofte (30–79 %) | I 1 tilstand |
| GTPBP2GTP binding protein 2 | Ofte (30–79 %) | I 1 tilstand |
| GUSBglucuronidase beta | Ofte (30–79 %) | I 1 tilstand |
| HESX1HESX homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Ofte (30–79 %) | I 2 tilstande |
| HRASHRas proto-oncogene, GTPase | Ofte (30–79 %) | I 2 tilstande |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Ofte (30–79 %) | I 1 tilstand |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Ofte (30–79 %) | I 1 tilstand |
| LAMA2laminin subunit alpha 2 | Ofte (30–79 %) | I 1 tilstand |
| LHX3LIM homeobox 3 | Ofte (30–79 %) | I 1 tilstand |
| LHX4LIM homeobox 4 | Ofte (30–79 %) | I 1 tilstand |
| LRRC7leucine rich repeat containing 7 | Ofte (30–79 %) | I 1 tilstand |
| MBD5methyl-CpG binding domain protein 5 | Ofte (30–79 %) | I 1 tilstand |
| MED13Lmediator complex subunit 13L | Ofte (30–79 %) | I 2 tilstande |
| MEG3maternally expressed 3 | Ofte (30–79 %) | I 2 tilstande |
| MFN2mitofusin 2 | Ofte (30–79 %) | I 1 tilstand |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Ofte (30–79 %) | I 1 tilstand |
| POGZpogo transposable element derived with ZNF domain | Ofte (30–79 %) | I 1 tilstand |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Ofte (30–79 %) | I 1 tilstand |
| POMKprotein O-mannose kinase | Ofte (30–79 %) | I 1 tilstand |
| POMT1protein O-mannosyltransferase 1 | Ofte (30–79 %) | I 2 tilstande |
| POMT2protein O-mannosyltransferase 2 | Ofte (30–79 %) | I 3 tilstande |
| POU1F1POU class 1 homeobox 1 | Ofte (30–79 %) | I 2 tilstande |
| PRKAG2protein kinase AMP-activated non-catalytic subunit gamma 2 | Ofte (30–79 %) | I 1 tilstand |
| PROP1PROP paired-like homeobox 1 | Ofte (30–79 %) | I 1 tilstand |
| PSMB8proteasome 20S subunit beta 8 | Ofte (30–79 %) | I 1 tilstand |
| RNF125ring finger protein 125 | Ofte (30–79 %) | I 1 tilstand |
| RTL1retrotransposon Gag like 1 | Ofte (30–79 %) | I 2 tilstande |
| SETBP1SET binding protein 1 | Ofte (30–79 %) | I 2 tilstande |
| SGCGsarcoglycan gamma | Ofte (30–79 %) | I 1 tilstand |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Ofte (30–79 %) | I 1 tilstand |
| SNX14sorting nexin 14 | Ofte (30–79 %) | I 2 tilstande |
| TBCKTBC1 domain containing kinase | Ofte (30–79 %) | I 2 tilstande |
| TRAF3IP2TRAF3 interacting protein 2 | Ofte (30–79 %) | I 1 tilstand |
| TSHBthyroid stimulating hormone subunit beta | Ofte (30–79 %) | I 2 tilstande |
| ZFP57ZFP57 zinc finger protein | Ofte (30–79 %) | I 1 tilstand |
| ZFXzinc finger protein X-linked | Ofte (30–79 %) | I 1 tilstand |
| AFF4ALF transcription elongation factor 4 | Nogle gange (5–29 %) | I 1 tilstand |
| ALG6ALG6 alpha-1,3-glucosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Nogle gange (5–29 %) | I 1 tilstand |
| ARID1AAT-rich interaction domain 1A | Nogle gange (5–29 %) | I 1 tilstand |
| CACHD1cache domain containing 1 | Nogle gange (5–29 %) | I 1 tilstand |
| CDCA7cell division cycle associated 7 | Nogle gange (5–29 %) | I 1 tilstand |
| CPSF3cleavage and polyadenylation specific factor 3 | Nogle gange (5–29 %) | I 1 tilstand |
| DNMT3BDNA methyltransferase 3 beta | Nogle gange (5–29 %) | I 2 tilstande |
| DUOX2dual oxidase 2 | Nogle gange (5–29 %) | I 2 tilstande |
| DUOXA2dual oxidase maturation factor 2 | Nogle gange (5–29 %) | I 1 tilstand |
| FAM20AFAM20A golgi associated secretory pathway pseudokinase | Nogle gange (5–29 %) | I 1 tilstand |
| FEM1Bfem-1 homolog B | Nogle gange (5–29 %) | I 1 tilstand |
| GLB1galactosidase beta 1 | Nogle gange (5–29 %) | I 1 tilstand |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Nogle gange (5–29 %) | I 1 tilstand |
| HELLShelicase, lymphoid specific | Nogle gange (5–29 %) | I 1 tilstand |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Nogle gange (5–29 %) | I 1 tilstand |
| INSRinsulin receptor | Nogle gange (5–29 %) | I 1 tilstand |
| IPO8importin 8 | Nogle gange (5–29 %) | I 1 tilstand |
| IYDiodotyrosine deiodinase | Nogle gange (5–29 %) | I 1 tilstand |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Nogle gange (5–29 %) | I 1 tilstand |
| MAN2B1mannosidase alpha class 2B member 1 | Nogle gange (5–29 %) | I 3 tilstande |
| MAN2C1mannosidase alpha class 2C member 1 | Nogle gange (5–29 %) | I 1 tilstand |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Nogle gange (5–29 %) | I 1 tilstand |
| NEK9NIMA related kinase 9 | Nogle gange (5–29 %) | I 1 tilstand |
| POP1POP1 ribonuclease P/MRP subunit | Nogle gange (5–29 %) | I 1 tilstand |
| RNU4-2RNA, U4 small nuclear 2 | Nogle gange (5–29 %) | I 1 tilstand |
| SLC5A5solute carrier family 5 member 5 | Nogle gange (5–29 %) | I 2 tilstande |
| TGthyroglobulin | Nogle gange (5–29 %) | I 1 tilstand |
| TPOthyroid peroxidase | Nogle gange (5–29 %) | I 1 tilstand |
| TRMUtRNA mitochondrial 2-thiouridylase | Nogle gange (5–29 %) | I 1 tilstand |
| UHRF1ubiquitin like with PHD and ring finger domains 1 | Nogle gange (5–29 %) | I 1 tilstand |
| ZBTB24zinc finger and BTB domain containing 24 | Nogle gange (5–29 %) | I 1 tilstand |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Sjældent (1–4%) | I 1 tilstand |
| SAA1serum amyloid A1 | Sjældent (1–4%) | I 1 tilstand |
| SMPD1sphingomyelin phosphodiesterase 1 | Sjældent (1–4%) | I 1 tilstand |
| AMPD2adenosine monophosphate deaminase 2 | Ikke registreret | I 1 tilstand |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Ikke registreret | I 1 tilstand |
| CUL4Bcullin 4B | Ikke registreret | I 1 tilstand |
| DVL1dishevelled segment polarity protein 1 | Ikke registreret | I 1 tilstand |
| FDX2ferredoxin 2 | Ikke registreret | I 1 tilstand |
| FUCA1alpha-L-fucosidase 1 | Ikke registreret | I 1 tilstand |
| HEXBhexosaminidase subunit beta | Ikke registreret | I 1 tilstand |
| IDSiduronate 2-sulfatase | Ikke registreret | I 1 tilstand |
| IGF2insulin like growth factor 2 | Ikke registreret | I 1 tilstand |
| INPP5Einositol polyphosphate-5-phosphatase E | Ikke registreret | I 1 tilstand |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Ikke registreret | I 1 tilstand |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Ikke registreret | I 1 tilstand |
| LIMS2LIM zinc finger domain containing 2 | Ikke registreret | I 1 tilstand |
| PEX1peroxisomal biogenesis factor 1 | Ikke registreret | I 1 tilstand |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Ikke registreret | I 1 tilstand |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Ikke registreret | I 1 tilstand |
| ROR2ROR family WNT receptor 2 | Ikke registreret | I 1 tilstand |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Ikke registreret | I 1 tilstand |
| SNIP1Smad nuclear interacting protein 1 | Ikke registreret | I 1 tilstand |
| THRAthyroid hormone receptor alpha | Ikke registreret | I 1 tilstand |
| UBE3Aubiquitin protein ligase E3A | Ikke registreret | I 1 tilstand |
| WNT5AWnt family member 5A | Ikke registreret | I 1 tilstand |
Hvor hyppigt det ses hos personer med en af genets tilstande, den hyppigste værdi på tværs af dem, sådan som Human Phenotype Ontology registrerer det. Disse sider beskriver egenskaber og den forskning, der ligger bag dem. De er ikke en diagnose, og hvis du har spørgsmål om symptomer, bør du spørge en læge eller genetisk rådgiver.
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Hvor oplysningerne kommer fra
- Human Phenotype Ontology, udgivelse 2026-09-01: egenskaben, dens navne, definition og de gener, der er knyttet til den. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger