Požymis
Overfolded ears
Klinikinis pavadinimas: Overfolded helix
A condition in which the helix is folded over to a greater degree than normal. That is, excessive curling of the helix edge, whereby the free edge is parallel to the plane of the ear.
Santrauka
- Taip pat vadinama
- Over-folded helices, Overfolded helices
- Kūno sistema
- Abnormality of the ear
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
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Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Overfolded ears. 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 |
|---|---|---|
| CHUKcomponent of inhibitor of nuclear factor kappa B kinase complex | Visada | 1 ligoje |
| EBPEBP cholestenol delta-isomerase | Visada | 1 ligoje |
| HOXA2homeobox A2 | Visada | 1 ligoje |
| JKAMPJNK1/MAPK8 associated membrane protein | Visada | 1 ligoje |
| NFIAnuclear factor I A | Visada | 1 ligoje |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Visada | 1 ligoje |
| TCF3transcription factor 3 | Visada | 1 ligoje |
| TGFB3transforming growth factor beta 3 | Visada | 1 ligoje |
| VPS51VPS51 subunit of GARP complex | Visada | 1 ligoje |
| ZSCAN10zinc finger and SCAN domain containing 10 | Visada | 1 ligoje |
| CHD7chromodomain helicase DNA binding protein 7 | Labai dažnai (80–99%) | 1 ligoje |
| KCTD1potassium channel tetramerization domain containing 1 | Labai dažnai (80–99%) | 1 ligoje |
| LONP1lon peptidase 1, mitochondrial | Labai dažnai (80–99%) | 1 ligoje |
| SEMA3Esemaphorin 3E | Labai dažnai (80–99%) | 1 ligoje |
| ARVCFARVCF delta catenin family member | Dažnai (30–79%) | 1 ligoje |
| CBLCbl proto-oncogene | Dažnai (30–79%) | 1 ligoje |
| CLIC2CLIC family member 2 | Dažnai (30–79%) | 1 ligoje |
| COMTcatechol-O-methyltransferase | Dažnai (30–79%) | 1 ligoje |
| CREBBPCREB binding lysine acetyltransferase | Dažnai (30–79%) | 1 ligoje |
| CSNK2A1casein kinase 2 alpha 1 | Dažnai (30–79%) | 1 ligoje |
| DACT1dishevelled binding antagonist of beta catenin 1 | Dažnai (30–79%) | 2 ligose |
| DDX6DEAD-box helicase 6 | Dažnai (30–79%) | 1 ligoje |
| EBF3EBF transcription factor 3 | Dažnai (30–79%) | 1 ligoje |
| EFTUD2elongation factor Tu GTP binding domain containing 2 | Dažnai (30–79%) | 2 ligose |
| FREM1FRAS1 related extracellular matrix 1 | Dažnai (30–79%) | 1 ligoje |
| FZD2frizzled class receptor 2 | Dažnai (30–79%) | 1 ligoje |
| GON4Lgon-4 like | Dažnai (30–79%) | 1 ligoje |
| GP1BBglycoprotein Ib platelet subunit beta | Dažnai (30–79%) | 1 ligoje |
| HIRAhistone cell cycle regulator | Dažnai (30–79%) | 1 ligoje |
| HSPG2heparan sulfate proteoglycan 2 | Dažnai (30–79%) | 2 ligose |
| JMJD1Cjumonji domain containing 1C | Dažnai (30–79%) | 1 ligoje |
| MAPRE2microtubule associated protein RP/EB family member 2 | Dažnai (30–79%) | 1 ligoje |
| NFIXnuclear factor I X | Dažnai (30–79%) | 1 ligoje |
| PIGAphosphatidylinositol glycan anchor biosynthesis class A | Dažnai (30–79%) | 1 ligoje |
| PIGBphosphatidylinositol glycan anchor biosynthesis class B | Dažnai (30–79%) | 1 ligoje |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Dažnai (30–79%) | 1 ligoje |
| POGZpogo transposable element derived with ZNF domain | Dažnai (30–79%) | 1 ligoje |
| RECQL4RecQ like helicase 4 | Dažnai (30–79%) | 1 ligoje |
| RNU5B-1RNA, U5B small nuclear 1 | Dažnai (30–79%) | 1 ligoje |
| RPS23ribosomal protein S23 | Dažnai (30–79%) | 1 ligoje |
Rodyti dar 48 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| RREB1ras responsive element binding protein 1 | Dažnai (30–79%) | 1 ligoje |
| SALL1spalt like transcription factor 1 | Dažnai (30–79%) | 1 ligoje |
| SCARF2scavenger receptor class F member 2 | Dažnai (30–79%) | 1 ligoje |
| SEC24CSEC24 homolog C, COPII component | Dažnai (30–79%) | 1 ligoje |
| SLC26A2solute carrier family 26 member 2 | Dažnai (30–79%) | 1 ligoje |
| TASP1taspase 1 | Dažnai (30–79%) | 1 ligoje |
| TBX1T-box transcription factor 1 | Dažnai (30–79%) | 1 ligoje |
| TUBBtubulin beta class I | Dažnai (30–79%) | 1 ligoje |
| TWIST1twist family bHLH transcription factor 1 | Dažnai (30–79%) | 1 ligoje |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Dažnai (30–79%) | 1 ligoje |
| ACTBactin beta | Kartais (5–29%) | 2 ligose |
| AHDC1AT-hook DNA binding motif containing 1 | Kartais (5–29%) | 1 ligoje |
| ASXL2ASXL transcriptional regulator 2 | Kartais (5–29%) | 1 ligoje |
| BHLHA9basic helix-loop-helix family member a9 | Kartais (5–29%) | 1 ligoje |
| CDK13cyclin dependent kinase 13 | Kartais (5–29%) | 1 ligoje |
| CSPP1centrosome and spindle pole associated protein 1 | Kartais (5–29%) | 1 ligoje |
| CTCFCCCTC-binding factor | Kartais (5–29%) | 1 ligoje |
| ERFETS2 repressor factor | Kartais (5–29%) | 1 ligoje |
| FANCBFA complementation group B | Kartais (5–29%) | 1 ligoje |
| GNB1G protein subunit beta 1 | Kartais (5–29%) | 2 ligose |
| HYAL2hyaluronidase 2 | Kartais (5–29%) | 1 ligoje |
| KDM2Blysine demethylase 2B | Kartais (5–29%) | 1 ligoje |
| KIAA0586KIAA0586 | Kartais (5–29%) | 1 ligoje |
| KMT2Dlysine methyltransferase 2D | Kartais (5–29%) | 1 ligoje |
| LZTR1leucine zipper like post translational regulator 1 | Kartais (5–29%) | 1 ligoje |
| MARK2microtubule affinity regulating kinase 2 | Kartais (5–29%) | 1 ligoje |
| NARS1asparaginyl-tRNA synthetase 1 | Kartais (5–29%) | 1 ligoje |
| PGM2L1phosphoglucomutase 2 like 1 | Kartais (5–29%) | 1 ligoje |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Kartais (5–29%) | 2 ligose |
| PPP1CBprotein phosphatase 1 catalytic subunit beta | Kartais (5–29%) | 1 ligoje |
| PYCR2pyrroline-5-carboxylate reductase 2 | Kartais (5–29%) | 1 ligoje |
| RNU4-2RNA, U4 small nuclear 2 | Kartais (5–29%) | 1 ligoje |
| SMC1Astructural maintenance of chromosomes 1A | Kartais (5–29%) | 1 ligoje |
| TBX2T-box transcription factor 2 | Kartais (5–29%) | 1 ligoje |
| TRIOtrio Rho guanine nucleotide exchange factor | Kartais (5–29%) | 1 ligoje |
| ZFXzinc finger protein X-linked | Kartais (5–29%) | 1 ligoje |
| ZMYND11zinc finger MYND-type containing 11 | Kartais (5–29%) | 1 ligoje |
| AGO2argonaute RISC catalytic component 2 | Retai (1–4 %) | 1 ligoje |
| FOXP2forkhead box P2 | Retai (1–4 %) | 1 ligoje |
| ZNF462zinc finger protein 462 | Retai (1–4 %) | 1 ligoje |
| AMER1APC membrane recruitment protein 1 | Neužfiksuota | 1 ligoje |
| AMMECR1AMMECR nuclear protein 1 | Neužfiksuota | 1 ligoje |
| BCL11ABCL11 transcription factor A | Neužfiksuota | 1 ligoje |
| BCORBCL6 corepressor | Neužfiksuota | 1 ligoje |
| CPT2carnitine palmitoyltransferase 2 | Neužfiksuota | 1 ligoje |
| KANSL1KAT8 regulatory NSL complex subunit 1 | Neužfiksuota | 1 ligoje |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Neužfiksuota | 1 ligoje |
| TFAP2Atranscription factor AP-2 alpha | 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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Iš kur tai žinoma
- 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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