Tunnus
Abnormally large tongue
Kliiniline nimetus: Macroglossia
Increased length and width of the tongue.
Kokkuvõte
- Teised nimetused
- Increased size of tongue, Large tongue, Hyperplasia of the tongue, Hypertrophy of the tongue, Tongue hypertrophy
VõrdlusgenoomGRCh38hg38
Geeni- ja variandilehtede positsioonid järgivad seda valikut selles brauseris.
Read the genes linked to Abnormally large tongue, and the rest of your genome, with one test.
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Telli oma Genome Test155 geeni on seotud tunnusega Abnormally large tongue
Nende geenide muutused põhjustavad haruldasi haigusi, mille puhul esineb Abnormally large tongue. Enamikul selle tunnusega inimestest ei ole ühtegi neist haigustest. Selles loendis olev geen ei ütle midagi kellegi enda genoomi kohta.
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| FIBPFGF1 intracellular binding protein | Alati | Esineb 2 haiguses |
| GNSglucosamine (N-acetyl)-6-sulfatase | Alati | Esineb 1 haiguses |
| IDUAalpha-L-iduronidase | Alati | Esineb 2 haiguses |
| IFT140intraflagellar transport 140 | Alati | Esineb 1 haiguses |
| IL6STinterleukin 6 cytokine family signal transducer | Alati | Esineb 1 haiguses |
| KCNH5potassium voltage-gated channel subfamily H member 5 | Alati | Esineb 1 haiguses |
| KDM2Blysine demethylase 2B | Alati | Esineb 1 haiguses |
| PIGSphosphatidylinositol glycan anchor biosynthesis class S | Alati | Esineb 1 haiguses |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Alati | Esineb 1 haiguses |
| RNU2-2RNA, U2 small nuclear 2 | Alati | Esineb 1 haiguses |
| TRA2Btransformer 2 beta homolog | Alati | Esineb 1 haiguses |
| ACTBactin beta | Väga sageli (80–99%) | Esineb 1 haiguses |
| AIPAHR interacting HSP90 co-chaperone | Väga sageli (80–99%) | Esineb 1 haiguses |
| BAZ1Bbromodomain adjacent to zinc finger domain 1B | Väga sageli (80–99%) | Esineb 1 haiguses |
| BUD23BUD23 rRNA methyltransferase and ribosome maturation factor | Väga sageli (80–99%) | Esineb 1 haiguses |
| CLIP2CAP-Gly domain containing linker protein 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| DNAJC30DnaJ heat shock protein family (Hsp40) member C30 | Väga sageli (80–99%) | Esineb 1 haiguses |
| EIF4Heukaryotic translation initiation factor 4H | Väga sageli (80–99%) | Esineb 1 haiguses |
| ELNelastin | Väga sageli (80–99%) | Esineb 1 haiguses |
| FKBP6FKBP prolyl isomerase family member 6 (inactive) | Väga sageli (80–99%) | Esineb 1 haiguses |
| FOXE1forkhead box E1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GPC3glypican 3 | Väga sageli (80–99%) | Esineb 2 haiguses |
| GPC4glypican 4 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GPR101G protein-coupled receptor 101 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GTF2Igeneral transcription factor IIi | Väga sageli (80–99%) | Esineb 1 haiguses |
| GTF2IRD1GTF2I repeat domain containing 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| GTF2IRD2GTF2I repeat domain containing 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| HYMAIhydatidiform mole associated and imprinted | Väga sageli (80–99%) | Esineb 2 haiguses |
| LIMK1LIM domain kinase 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| METTL27methyltransferase like 27 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NCF1neutrophil cytosolic factor 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NKX2-1NK2 homeobox 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| NKX2-5NK2 homeobox 5 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PAX8paired box 8 | Väga sageli (80–99%) | Esineb 4 haiguses |
| PLAGL1PLAG1 like zinc finger 1 | Väga sageli (80–99%) | Esineb 2 haiguses |
| PQBP1polyglutamine binding protein 1 | Väga sageli (80–99%) | Esineb 1 haiguses |
| PTENphosphatase and tensin homolog | Väga sageli (80–99%) | Esineb 2 haiguses |
| RFC2replication factor C subunit 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| SLC26A4solute carrier family 26 member 4 | Väga sageli (80–99%) | Esineb 2 haiguses |
| STX1Asyntaxin 1A | Väga sageli (80–99%) | Esineb 1 haiguses |
Näita veel 115 geeni
| Geen | Kui sageli seda täheldatakse | Haigused |
|---|---|---|
| TBL2transducin beta like 2 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TMEM270transmembrane protein 270 | Väga sageli (80–99%) | Esineb 1 haiguses |
| TSHRthyroid stimulating hormone receptor | Väga sageli (80–99%) | Esineb 3 haiguses |
| VPS33AVPS33A core subunit of CORVET and HOPS complexes | Väga sageli (80–99%) | Esineb 2 haiguses |
| VPS37DVPS37D subunit of ESCRT-I | Väga sageli (80–99%) | Esineb 1 haiguses |
| ABCC8ATP binding cassette subfamily C member 8 | Sageli (30–79%) | Esineb 1 haiguses |
| AGAaspartylglucosaminidase | Sageli (30–79%) | Esineb 2 haiguses |
| ARSBarylsulfatase B | Sageli (30–79%) | Esineb 1 haiguses |
| ATP6V1B2ATPase H+ transporting V1 subunit B2 | Sageli (30–79%) | Esineb 2 haiguses |
| ATRXATRX chromatin remodeler | Sageli (30–79%) | Esineb 3 haiguses |
| CCDC47coiled-coil domain containing 47 | Sageli (30–79%) | Esineb 1 haiguses |
| CRPPACDP-L-ribitol pyrophosphorylase A | Sageli (30–79%) | Esineb 2 haiguses |
| DLK1delta like non-canonical Notch ligand 1 | Sageli (30–79%) | Esineb 2 haiguses |
| EHMT1euchromatic histone lysine methyltransferase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| ERLIN2ER lipid raft associated 2 | Sageli (30–79%) | Esineb 2 haiguses |
| FKRPfukutin related protein | Sageli (30–79%) | Esineb 3 haiguses |
| FOXG1forkhead box G1 | Sageli (30–79%) | Esineb 1 haiguses |
| GAAalpha glucosidase | Sageli (30–79%) | Esineb 2 haiguses |
| GMPPBGDP-mannose pyrophosphorylase B | Sageli (30–79%) | Esineb 1 haiguses |
| GNEglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase | Sageli (30–79%) | Esineb 1 haiguses |
| GTPBP1GTP binding protein 1 | Sageli (30–79%) | Esineb 1 haiguses |
| GTPBP2GTP binding protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| GUSBglucuronidase beta | Sageli (30–79%) | Esineb 1 haiguses |
| HESX1HESX homeobox 1 | Sageli (30–79%) | Esineb 1 haiguses |
| HNRNPKheterogeneous nuclear ribonucleoprotein K | Sageli (30–79%) | Esineb 2 haiguses |
| HRASHRas proto-oncogene, GTPase | Sageli (30–79%) | Esineb 2 haiguses |
| KCNJ11potassium inwardly rectifying channel subfamily J member 11 | Sageli (30–79%) | Esineb 1 haiguses |
| KCNMA1potassium calcium-activated channel subfamily M alpha 1 | Sageli (30–79%) | Esineb 1 haiguses |
| LAMA2laminin subunit alpha 2 | Sageli (30–79%) | Esineb 1 haiguses |
| LHX3LIM homeobox 3 | Sageli (30–79%) | Esineb 1 haiguses |
| LHX4LIM homeobox 4 | Sageli (30–79%) | Esineb 1 haiguses |
| LRRC7leucine rich repeat containing 7 | Sageli (30–79%) | Esineb 1 haiguses |
| MBD5methyl-CpG binding domain protein 5 | Sageli (30–79%) | Esineb 1 haiguses |
| MED13Lmediator complex subunit 13L | Sageli (30–79%) | Esineb 2 haiguses |
| MEG3maternally expressed 3 | Sageli (30–79%) | Esineb 2 haiguses |
| MFN2mitofusin 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PIK3CAphosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | Sageli (30–79%) | Esineb 1 haiguses |
| POGZpogo transposable element derived with ZNF domain | Sageli (30–79%) | Esineb 1 haiguses |
| POMGNT1protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | Sageli (30–79%) | Esineb 1 haiguses |
| POMKprotein O-mannose kinase | Sageli (30–79%) | Esineb 1 haiguses |
| POMT1protein O-mannosyltransferase 1 | Sageli (30–79%) | Esineb 2 haiguses |
| POMT2protein O-mannosyltransferase 2 | Sageli (30–79%) | Esineb 3 haiguses |
| POU1F1POU class 1 homeobox 1 | Sageli (30–79%) | Esineb 2 haiguses |
| PRKAG2protein kinase AMP-activated non-catalytic subunit gamma 2 | Sageli (30–79%) | Esineb 1 haiguses |
| PROP1PROP paired-like homeobox 1 | Sageli (30–79%) | Esineb 1 haiguses |
| PSMB8proteasome 20S subunit beta 8 | Sageli (30–79%) | Esineb 1 haiguses |
| RNF125ring finger protein 125 | Sageli (30–79%) | Esineb 1 haiguses |
| RTL1retrotransposon Gag like 1 | Sageli (30–79%) | Esineb 2 haiguses |
| SETBP1SET binding protein 1 | Sageli (30–79%) | Esineb 2 haiguses |
| SGCGsarcoglycan gamma | Sageli (30–79%) | Esineb 1 haiguses |
| SMARCB1SWI/SNF related BAF chromatin remodeling complex subunit B1 | Sageli (30–79%) | Esineb 1 haiguses |
| SNX14sorting nexin 14 | Sageli (30–79%) | Esineb 2 haiguses |
| TBCKTBC1 domain containing kinase | Sageli (30–79%) | Esineb 2 haiguses |
| TRAF3IP2TRAF3 interacting protein 2 | Sageli (30–79%) | Esineb 1 haiguses |
| TSHBthyroid stimulating hormone subunit beta | Sageli (30–79%) | Esineb 2 haiguses |
| ZFP57ZFP57 zinc finger protein | Sageli (30–79%) | Esineb 1 haiguses |
| ZFXzinc finger protein X-linked | Sageli (30–79%) | Esineb 1 haiguses |
| AFF4ALF transcription elongation factor 4 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALG6ALG6 alpha-1,3-glucosyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALG8ALG8 alpha-1,3-glucosyltransferase | Mõnikord (5–29%) | Esineb 1 haiguses |
| ARID1AAT-rich interaction domain 1A | Mõnikord (5–29%) | Esineb 1 haiguses |
| CACHD1cache domain containing 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CDCA7cell division cycle associated 7 | Mõnikord (5–29%) | Esineb 1 haiguses |
| CPSF3cleavage and polyadenylation specific factor 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| DNMT3BDNA methyltransferase 3 beta | Mõnikord (5–29%) | Esineb 2 haiguses |
| DUOX2dual oxidase 2 | Mõnikord (5–29%) | Esineb 2 haiguses |
| DUOXA2dual oxidase maturation factor 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| FAM20AFAM20A golgi associated secretory pathway pseudokinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| FEM1Bfem-1 homolog B | Mõnikord (5–29%) | Esineb 1 haiguses |
| GLB1galactosidase beta 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| GNPTABN-acetylglucosamine-1-phosphate transferase subunits alpha and beta | Mõnikord (5–29%) | Esineb 1 haiguses |
| HELLShelicase, lymphoid specific | Mõnikord (5–29%) | Esineb 1 haiguses |
| HS2ST1heparan sulfate 2-O-sulfotransferase 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| INSRinsulin receptor | Mõnikord (5–29%) | Esineb 1 haiguses |
| IPO8importin 8 | Mõnikord (5–29%) | Esineb 1 haiguses |
| IYDiodotyrosine deiodinase | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNH1potassium voltage-gated channel subfamily H member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| KCNN3potassium calcium-activated channel subfamily N member 3 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MAN2B1mannosidase alpha class 2B member 1 | Mõnikord (5–29%) | Esineb 3 haiguses |
| MAN2C1mannosidase alpha class 2C member 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| MT-TEmitochondrially encoded tRNA-Glu (GAA/G) | Mõnikord (5–29%) | Esineb 1 haiguses |
| NEK9NIMA related kinase 9 | Mõnikord (5–29%) | Esineb 1 haiguses |
| POP1POP1 ribonuclease P/MRP subunit | Mõnikord (5–29%) | Esineb 1 haiguses |
| RNU4-2RNA, U4 small nuclear 2 | Mõnikord (5–29%) | Esineb 1 haiguses |
| SLC5A5solute carrier family 5 member 5 | Mõnikord (5–29%) | Esineb 2 haiguses |
| TGthyroglobulin | Mõnikord (5–29%) | Esineb 1 haiguses |
| TPOthyroid peroxidase | Mõnikord (5–29%) | Esineb 1 haiguses |
| TRMUtRNA mitochondrial 2-thiouridylase | Mõnikord (5–29%) | Esineb 1 haiguses |
| UHRF1ubiquitin like with PHD and ring finger domains 1 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ZBTB24zinc finger and BTB domain containing 24 | Mõnikord (5–29%) | Esineb 1 haiguses |
| ALG3ALG3 alpha-1,3- mannosyltransferase | Harva (1–4%) | Esineb 1 haiguses |
| SAA1serum amyloid A1 | Harva (1–4%) | Esineb 1 haiguses |
| SMPD1sphingomyelin phosphodiesterase 1 | Harva (1–4%) | Esineb 1 haiguses |
| AMPD2adenosine monophosphate deaminase 2 | Pole registreeritud | Esineb 1 haiguses |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Pole registreeritud | Esineb 1 haiguses |
| CUL4Bcullin 4B | Pole registreeritud | Esineb 1 haiguses |
| DVL1dishevelled segment polarity protein 1 | Pole registreeritud | Esineb 1 haiguses |
| FDX2ferredoxin 2 | Pole registreeritud | Esineb 1 haiguses |
| FUCA1alpha-L-fucosidase 1 | Pole registreeritud | Esineb 1 haiguses |
| HEXBhexosaminidase subunit beta | Pole registreeritud | Esineb 1 haiguses |
| IDSiduronate 2-sulfatase | Pole registreeritud | Esineb 1 haiguses |
| IGF2insulin like growth factor 2 | Pole registreeritud | Esineb 1 haiguses |
| INPP5Einositol polyphosphate-5-phosphatase E | Pole registreeritud | Esineb 1 haiguses |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Pole registreeritud | Esineb 1 haiguses |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Pole registreeritud | Esineb 1 haiguses |
| LIMS2LIM zinc finger domain containing 2 | Pole registreeritud | Esineb 1 haiguses |
| PEX1peroxisomal biogenesis factor 1 | Pole registreeritud | Esineb 1 haiguses |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Pole registreeritud | Esineb 1 haiguses |
| PIK3C2Aphosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha | Pole registreeritud | Esineb 1 haiguses |
| ROR2ROR family WNT receptor 2 | Pole registreeritud | Esineb 1 haiguses |
| SMARCA4SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Pole registreeritud | Esineb 1 haiguses |
| SNIP1Smad nuclear interacting protein 1 | Pole registreeritud | Esineb 1 haiguses |
| THRAthyroid hormone receptor alpha | Pole registreeritud | Esineb 1 haiguses |
| UBE3Aubiquitin protein ligase E3A | Pole registreeritud | Esineb 1 haiguses |
| WNT5AWnt family member 5A | Pole registreeritud | Esineb 1 haiguses |
Kui sageli see esineb geenist tulenevate seisunditega inimeste seas, kõige sagedamini nende kõigi seas, nagu on märgitud Inimese fenotüübi ontoloogias. Need lehed kirjeldavad tunnuseid ja nende taga olevaid uuringuid; need ei ole diagnoos ning sümptomite kohta tuleks küsida arstilt või geneetilt nõustajalt.
Kitsamad tunnused
Laiemad tunnused
Allikas
- Inimese fenotüübi ontoloogia, versioon 2026-09-01: tunnus, selle nimetused, määratlus ja sellega seotud geenid. Lisateave leiab aadressilt hpo.jax.org.
- Andmeversioon 2026.10.16-c6eea6bf.
Üks test. Vastused kogu eluks.
Alates 449 $Tasuta kohaletoimetamine · Tulemused 6–8 nädala pärast