Požymis
Abnormally large tongue
Klinikinis pavadinimas: Macroglossia
Increased length and width of the tongue.
Santrauka
- Taip pat vadinama
- Increased size of tongue, Large tongue, Hyperplasia of the tongue, Hypertrophy of the tongue, Tongue hypertrophy
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Įsigyti savo Genome Test155 genų susiję su Abnormally large tongue
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Abnormally large tongue. Dauguma žmonių, turinčių šį požymį, neturi nė vienos iš tų ligų, o šiame sąraše esantis genas nieko nesako apie kieno nors paties genomą.
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| FIBPFGF1 intracellular binding protein | Visada | 2 ligose |
| GNSglucosamine (N-acetyl)-6-sulfatase | Visada | 1 ligoje |
| IDUAalpha-L-iduronidase | Visada | 2 ligose |
| IFT140intraflagellar transport 140 | Visada | 1 ligoje |
| IL6STinterleukin 6 cytokine family signal transducer | Visada | 1 ligoje |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Visada | 1 ligoje |
| KDM2Blysine demethylase 2B | Visada | 1 ligoje |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Visada | 1 ligoje |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Visada | 1 ligoje |
| RNU2-2RNA, U2 small nuclear 2 | Visada | 1 ligoje |
| TRA2Btransformer 2 beta homolog | Visada | 1 ligoje |
| ACTBactin beta | Labai dažnai (80–99%) | 1 ligoje |
| AIPAHR interacting HSP90 co-chaperone | Labai dažnai (80–99%) | 1 ligoje |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Labai dažnai (80–99%) | 1 ligoje |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Labai dažnai (80–99%) | 1 ligoje |
| CLIP2CAP-Gly domain containing linker protein 2 | Labai dažnai (80–99%) | 1 ligoje |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Labai dažnai (80–99%) | 1 ligoje |
| EIF4Heukaryotic translation initiation factor 4H | Labai dažnai (80–99%) | 1 ligoje |
| ELNelastin | Labai dažnai (80–99%) | 1 ligoje |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Labai dažnai (80–99%) | 1 ligoje |
| FOXE1forkhead box E1 | Labai dažnai (80–99%) | 1 ligoje |
| GPC3glypican 3 | Labai dažnai (80–99%) | 2 ligose |
| GPC4glypican 4 | Labai dažnai (80–99%) | 1 ligoje |
| GPR101G protein-coupled receptor 101 | Labai dažnai (80–99%) | 1 ligoje |
| GTF2Igeneral transcription factor IIi | Labai dažnai (80–99%) | 1 ligoje |
| GTF2IRD1GTF2I repeat domain containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| GTF2IRD2GTF2I repeat domain containing 2 | Labai dažnai (80–99%) | 1 ligoje |
| HYMAIhydatidiform mole associated and imprinted | Labai dažnai (80–99%) | 2 ligose |
| LIMK1LIM domain kinase 1 | Labai dažnai (80–99%) | 1 ligoje |
| METTL27methyltransferase like 27 | Labai dažnai (80–99%) | 1 ligoje |
| NCF1neutrophil cytosolic factor 1 | Labai dažnai (80–99%) | 1 ligoje |
| NKX2-1NK2 homeobox 1 | Labai dažnai (80–99%) | 1 ligoje |
| NKX2-5NK2 homeobox 5 | Labai dažnai (80–99%) | 2 ligose |
| PAX8paired box 8 | Labai dažnai (80–99%) | 4 ligose |
| PLAGL1PLAG1 like zinc finger 1 | Labai dažnai (80–99%) | 2 ligose |
| PQBP1polyglutamine binding protein 1 | Labai dažnai (80–99%) | 1 ligoje |
| PTENphosphatase and tensin homolog | Labai dažnai (80–99%) | 2 ligose |
| RFC2replication factor C subunit 2 | Labai dažnai (80–99%) | 1 ligoje |
| SLC26A4solute carrier family 26 member 4 | Labai dažnai (80–99%) | 2 ligose |
| STX1Asyntaxin 1A | Labai dažnai (80–99%) | 1 ligoje |
Rodyti dar 115 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| TBL2transducin beta like 2 | Labai dažnai (80–99%) | 1 ligoje |
| TMEM270transmembrane protein 270 | Labai dažnai (80–99%) | 1 ligoje |
| TSHRthyroid stimulating hormone receptor | Labai dažnai (80–99%) | 3 ligose |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Labai dažnai (80–99%) | 2 ligose |
| VPS37DVPS37D subunit of ESCRT-I | Labai dažnai (80–99%) | 1 ligoje |
| ABCC8ATP binding cassette subfamily C member 8 | Dažnai (30–79%) | 1 ligoje |
| AGAaspartylglucosaminidase | Dažnai (30–79%) | 2 ligose |
| ARSBarylsulfatase B | Dažnai (30–79%) | 1 ligoje |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Dažnai (30–79%) | 2 ligose |
| ATRXATRX chromatin remodeler | Dažnai (30–79%) | 3 ligose |
| CCDC47coiled-coil domain containing 47 | Dažnai (30–79%) | 1 ligoje |
| CRPPACDP-L-ribitol pyrophosphorylase A | Dažnai (30–79%) | 2 ligose |
| DLK1delta like non-canonical Notch ligand 1 | Dažnai (30–79%) | 2 ligose |
| EHMT1euchromatic histone lysine methyltransferase 1 | Dažnai (30–79%) | 2 ligose |
| ERLIN2ER lipid raft associated 2 | Dažnai (30–79%) | 2 ligose |
| FKRPfukutin related protein | Dažnai (30–79%) | 3 ligose |
| FOXG1forkhead box G1 | Dažnai (30–79%) | 1 ligoje |
| GAAalpha glucosidase | Dažnai (30–79%) | 2 ligose |
| GMPPBGDP-mannose pyrophosphorylase B | Dažnai (30–79%) | 1 ligoje |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Dažnai (30–79%) | 1 ligoje |
| GTPBP1GTP binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| GTPBP2GTP binding protein 2 | Dažnai (30–79%) | 1 ligoje |
| GUSBglucuronidase beta | Dažnai (30–79%) | 1 ligoje |
| HESX1HESX homeobox 1 | Dažnai (30–79%) | 1 ligoje |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Dažnai (30–79%) | 2 ligose |
| HRASHRas proto-oncogene, GTPase | Dažnai (30–79%) | 2 ligose |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Dažnai (30–79%) | 1 ligoje |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Dažnai (30–79%) | 1 ligoje |
| LAMA2laminin subunit alpha 2 | Dažnai (30–79%) | 1 ligoje |
| LHX3LIM homeobox 3 | Dažnai (30–79%) | 1 ligoje |
| LHX4LIM homeobox 4 | Dažnai (30–79%) | 1 ligoje |
| LRRC7leucine rich repeat containing 7 | Dažnai (30–79%) | 1 ligoje |
| MBD5methyl-CpG binding domain protein 5 | Dažnai (30–79%) | 1 ligoje |
| MED13Lmediator complex subunit 13L | Dažnai (30–79%) | 2 ligose |
| MEG3maternally expressed 3 | Dažnai (30–79%) | 2 ligose |
| MFN2mitofusin 2 | Dažnai (30–79%) | 1 ligoje |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Dažnai (30–79%) | 1 ligoje |
| POGZpogo transposable element derived with ZNF domain | Dažnai (30–79%) | 1 ligoje |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Dažnai (30–79%) | 1 ligoje |
| POMKprotein O-mannose kinase | Dažnai (30–79%) | 1 ligoje |
| POMT1protein O-mannosyltransferase 1 | Dažnai (30–79%) | 2 ligose |
| POMT2protein O-mannosyltransferase 2 | Dažnai (30–79%) | 3 ligose |
| POU1F1POU class 1 homeobox 1 | Dažnai (30–79%) | 2 ligose |
| PRKAG2protein kinase AMP-activated non-catalytic subunit gamma 2 | Dažnai (30–79%) | 1 ligoje |
| PROP1PROP paired-like homeobox 1 | Dažnai (30–79%) | 1 ligoje |
| PSMB8proteasome 20S subunit beta 8 | Dažnai (30–79%) | 1 ligoje |
| RNF125ring finger protein 125 | Dažnai (30–79%) | 1 ligoje |
| RTL1retrotransposon Gag like 1 | Dažnai (30–79%) | 2 ligose |
| SETBP1SET binding protein 1 | Dažnai (30–79%) | 2 ligose |
| SGCGsarcoglycan gamma | Dažnai (30–79%) | 1 ligoje |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Dažnai (30–79%) | 1 ligoje |
| SNX14sorting nexin 14 | Dažnai (30–79%) | 2 ligose |
| TBCKTBC1 domain containing kinase | Dažnai (30–79%) | 2 ligose |
| TRAF3IP2TRAF3 interacting protein 2 | Dažnai (30–79%) | 1 ligoje |
| TSHBthyroid stimulating hormone subunit beta | Dažnai (30–79%) | 2 ligose |
| ZFP57ZFP57 zinc finger protein | Dažnai (30–79%) | 1 ligoje |
| ZFXzinc finger protein X-linked | Dažnai (30–79%) | 1 ligoje |
| AFF4ALF transcription elongation factor 4 | Kartais (5–29%) | 1 ligoje |
| ALG6ALG6 alpha-1,3-glucosyltransferase | Kartais (5–29%) | 1 ligoje |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Kartais (5–29%) | 1 ligoje |
| ARID1AAT-rich interaction domain 1A | Kartais (5–29%) | 1 ligoje |
| CACHD1cache domain containing 1 | Kartais (5–29%) | 1 ligoje |
| CDCA7cell division cycle associated 7 | Kartais (5–29%) | 1 ligoje |
| CPSF3cleavage and polyadenylation specific factor 3 | Kartais (5–29%) | 1 ligoje |
| DNMT3BDNA methyltransferase 3 beta | Kartais (5–29%) | 2 ligose |
| DUOX2dual oxidase 2 | Kartais (5–29%) | 2 ligose |
| DUOXA2dual oxidase maturation factor 2 | Kartais (5–29%) | 1 ligoje |
| FAM20AFAM20A golgi associated secretory pathway pseudokinase | Kartais (5–29%) | 1 ligoje |
| FEM1Bfem-1 homolog B | Kartais (5–29%) | 1 ligoje |
| GLB1galactosidase beta 1 | Kartais (5–29%) | 1 ligoje |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Kartais (5–29%) | 1 ligoje |
| HELLShelicase, lymphoid specific | Kartais (5–29%) | 1 ligoje |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Kartais (5–29%) | 1 ligoje |
| INSRinsulin receptor | Kartais (5–29%) | 1 ligoje |
| IPO8importin 8 | Kartais (5–29%) | 1 ligoje |
| IYDiodotyrosine deiodinase | Kartais (5–29%) | 1 ligoje |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Kartais (5–29%) | 1 ligoje |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Kartais (5–29%) | 1 ligoje |
| MAN2B1mannosidase alpha class 2B member 1 | Kartais (5–29%) | 3 ligose |
| MAN2C1mannosidase alpha class 2C member 1 | Kartais (5–29%) | 1 ligoje |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Kartais (5–29%) | 1 ligoje |
| NEK9NIMA related kinase 9 | Kartais (5–29%) | 1 ligoje |
| POP1POP1 ribonuclease P/MRP subunit | Kartais (5–29%) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Kartais (5–29%) | 1 ligoje |
| SLC5A5solute carrier family 5 member 5 | Kartais (5–29%) | 2 ligose |
| TGthyroglobulin | Kartais (5–29%) | 1 ligoje |
| TPOthyroid peroxidase | Kartais (5–29%) | 1 ligoje |
| TRMUtRNA mitochondrial 2-thiouridylase | Kartais (5–29%) | 1 ligoje |
| UHRF1ubiquitin like with PHD and ring finger domains 1 | Kartais (5–29%) | 1 ligoje |
| ZBTB24zinc finger and BTB domain containing 24 | Kartais (5–29%) | 1 ligoje |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Retai (1–4 %) | 1 ligoje |
| SAA1serum amyloid A1 | Retai (1–4 %) | 1 ligoje |
| SMPD1sphingomyelin phosphodiesterase 1 | Retai (1–4 %) | 1 ligoje |
| AMPD2adenosine monophosphate deaminase 2 | Neužfiksuota | 1 ligoje |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Neužfiksuota | 1 ligoje |
| CUL4Bcullin 4B | Neužfiksuota | 1 ligoje |
| DVL1dishevelled segment polarity protein 1 | Neužfiksuota | 1 ligoje |
| FDX2ferredoxin 2 | Neužfiksuota | 1 ligoje |
| FUCA1alpha-L-fucosidase 1 | Neužfiksuota | 1 ligoje |
| HEXBhexosaminidase subunit beta | Neužfiksuota | 1 ligoje |
| IDSiduronate 2-sulfatase | Neužfiksuota | 1 ligoje |
| IGF2insulin like growth factor 2 | Neužfiksuota | 1 ligoje |
| INPP5Einositol polyphosphate-5-phosphatase E | Neužfiksuota | 1 ligoje |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Neužfiksuota | 1 ligoje |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Neužfiksuota | 1 ligoje |
| LIMS2LIM zinc finger domain containing 2 | Neužfiksuota | 1 ligoje |
| PEX1peroxisomal biogenesis factor 1 | Neužfiksuota | 1 ligoje |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Neužfiksuota | 1 ligoje |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Neužfiksuota | 1 ligoje |
| ROR2ROR family WNT receptor 2 | Neužfiksuota | 1 ligoje |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Neužfiksuota | 1 ligoje |
| SNIP1Smad nuclear interacting protein 1 | Neužfiksuota | 1 ligoje |
| THRAthyroid hormone receptor alpha | Neužfiksuota | 1 ligoje |
| UBE3Aubiquitin protein ligase E3A | Neužfiksuota | 1 ligoje |
| WNT5AWnt family member 5A | Neužfiksuota | 1 ligoje |
Kaip dažnai šis požymis pasitaiko žmonėms, turintiems vieną iš geno sukeliamų ligų, ir kuris dažnis tarp jų didžiausias, pagal Žmogaus fenotipo ontologijos duomenis. Šiuose puslapiuose aprašomi požymiai ir juos grindžiantys tyrimai; tai nėra diagnozė, o su simptomais kreipkitės į gydytoją ar genetikos konsultantą.
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- Žmogaus fenotipo ontologija, 2026-09-01 leidimas: požymis, jo pavadinimai, apibrėžimas ir su juo susiję genai. Daugiau sužinokite svetainėje hpo.jax.org.
- Duomenų leidimas 2026.10.16-c6eea6bf.
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