Piirre
Enlarged colon lacking nerve cells
Kliininen nimi: Aganglionic megacolon
An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.
Yhteenveto
- Tunnetaan myös nimellä
- Hirschsprung megacolon
- Elimistön järjestelmä
- Abnormality of the digestive systemAbnormality of the nervous system
ViitegenomiGRCh38hg38
Geenien ja varianttien sivujen sijainnit noudattavat tätä valintaa tässä selaimessa.
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Tilaa Genome Test151 geeniä, jotka liittyvät piirteeseen Enlarged colon lacking nerve cells
Näiden geenien muutokset aiheuttavat harvinaisia sairauksia, joissa Enlarged colon lacking nerve cells esiintyy. Useimmilla, joilla on tämä piirre, ei ole mitään näistä sairauksista, eikä tämän listan geeni kerro mitään kenenkään omasta genomista.
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| ECE1endothelin converting enzyme 1 | Aina | 2 sairaudessa |
| EDN3endothelin 3 | Aina | 5 sairaudessa |
| EDNRBendothelin receptor type B | Aina | 6 sairaudessa |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Aina | 2 sairaudessa |
| GDNFglial cell derived neurotrophic factor | Aina | 3 sairaudessa |
| ABCD1ATP binding cassette subfamily D member 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| ASCL1achaete-scute family bHLH transcription factor 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| ATP7AATPase copper transporting alpha | Hyvin usein (80–99%) | 1 sairaudessa |
| ERBB2erb-b2 receptor tyrosine kinase 2 | Hyvin usein (80–99%) | 1 sairaudessa |
| KIFBPkinesin family binding protein | Hyvin usein (80–99%) | 2 sairaudessa |
| MITFmelanocyte inducing transcription factor | Hyvin usein (80–99%) | 2 sairaudessa |
| NRTNneurturin | Hyvin usein (80–99%) | 1 sairaudessa |
| PHOX2Bpaired like homeobox 2B | Hyvin usein (80–99%) | 5 sairaudessa |
| RETret proto-oncogene | Hyvin usein (80–99%) | 5 sairaudessa |
| SEMA3Csemaphorin 3C | Hyvin usein (80–99%) | 1 sairaudessa |
| SEMA3Dsemaphorin 3D | Hyvin usein (80–99%) | 1 sairaudessa |
| SMOsmoothened, frizzled class receptor | Hyvin usein (80–99%) | 1 sairaudessa |
| SOX10SRY-box transcription factor 10 | Hyvin usein (80–99%) | 5 sairaudessa |
| SREBF1sterol regulatory element binding transcription factor 1 | Hyvin usein (80–99%) | 1 sairaudessa |
| DDX3XDEAD-box helicase 3 X-linked | Usein (30–79%) | 1 sairaudessa |
| KRASKRas proto-oncogene, GTPase | Usein (30–79%) | 1 sairaudessa |
| L1CAML1 cell adhesion molecule | Usein (30–79%) | 2 sairaudessa |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Usein (30–79%) | 3 sairaudessa |
| PGAP2post-GPI attachment to proteins 2 | Usein (30–79%) | 2 sairaudessa |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Usein (30–79%) | 2 sairaudessa |
| SH2B1SH2B adaptor protein 1 | Usein (30–79%) | 1 sairaudessa |
| SLC6A8solute carrier family 6 member 8 | Usein (30–79%) | 2 sairaudessa |
| ZEB2zinc finger E-box binding homeobox 2 | Usein (30–79%) | 3 sairaudessa |
| ACTG2actin gamma 2, smooth muscle | Joskus (5–29%) | 2 sairaudessa |
| AHI1Abelson helper integration site 1 | Joskus (5–29%) | 2 sairaudessa |
| ARL13BARF like GTPase 13B | Joskus (5–29%) | 1 sairaudessa |
| ARL3ARF like GTPase 3 | Joskus (5–29%) | 1 sairaudessa |
| ARL6ARF like GTPase 6 | Joskus (5–29%) | 2 sairaudessa |
| ARMC9armadillo repeat containing 9 | Joskus (5–29%) | 1 sairaudessa |
| ARVCFARVCF delta catenin family member | Joskus (5–29%) | 1 sairaudessa |
| ARXaristaless related homeobox | Joskus (5–29%) | 1 sairaudessa |
| ATRXATRX chromatin remodeler | Joskus (5–29%) | 1 sairaudessa |
| B9D1B9 domain containing 1 | Joskus (5–29%) | 1 sairaudessa |
| B9D2B9 domain containing 2 | Joskus (5–29%) | 1 sairaudessa |
| BBS1Bardet-Biedl syndrome 1 | Joskus (5–29%) | 2 sairaudessa |
Näytä 111 geeniä lisää
| Geeni | Kuinka usein sitä esiintyy | Sairaudet |
|---|---|---|
| BDNFbrain derived neurotrophic factor | Joskus (5–29%) | 1 sairaudessa |
| BRCA1BRCA1 DNA repair associated | Joskus (5–29%) | 1 sairaudessa |
| BRCA2BRCA2 DNA repair associated | Joskus (5–29%) | 1 sairaudessa |
| BRIP1BRCA1 interacting DNA helicase 1 | Joskus (5–29%) | 1 sairaudessa |
| CBY1chibby 1, beta catenin antagonist | Joskus (5–29%) | 1 sairaudessa |
| CC2D2Acoiled-coil and C2 domain containing 2A | Joskus (5–29%) | 1 sairaudessa |
| CCDC28Bcoiled-coil domain containing 28B | Joskus (5–29%) | 1 sairaudessa |
| CEP104centrosomal protein 104 | Joskus (5–29%) | 1 sairaudessa |
| CEP120centrosomal protein 120 | Joskus (5–29%) | 2 sairaudessa |
| CEP290centrosomal protein 290 | Joskus (5–29%) | 2 sairaudessa |
| CEP41centrosomal protein 41 | Joskus (5–29%) | 2 sairaudessa |
| COMTcatechol-O-methyltransferase | Joskus (5–29%) | 1 sairaudessa |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Joskus (5–29%) | 1 sairaudessa |
| CSPP1centrosome and spindle pole associated protein 1 | Joskus (5–29%) | 1 sairaudessa |
| DDX59DEAD-box helicase 59 | Joskus (5–29%) | 2 sairaudessa |
| DHCR77-dehydrocholesterol reductase | Joskus (5–29%) | 2 sairaudessa |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Joskus (5–29%) | 1 sairaudessa |
| FAAP100FA core complex associated protein 100 | Joskus (5–29%) | 1 sairaudessa |
| FANCAFA complementation group A | Joskus (5–29%) | 1 sairaudessa |
| FANCBFA complementation group B | Joskus (5–29%) | 1 sairaudessa |
| FANCCFA complementation group C | Joskus (5–29%) | 1 sairaudessa |
| FANCD2FA complementation group D2 | Joskus (5–29%) | 1 sairaudessa |
| FANCEFA complementation group E | Joskus (5–29%) | 1 sairaudessa |
| FANCFFA complementation group F | Joskus (5–29%) | 1 sairaudessa |
| FANCGFA complementation group G | Joskus (5–29%) | 1 sairaudessa |
| FANCIFA complementation group I | Joskus (5–29%) | 1 sairaudessa |
| FANCLFA complementation group L | Joskus (5–29%) | 1 sairaudessa |
| FANCMFA complementation group M | Joskus (5–29%) | 1 sairaudessa |
| FOXF1forkhead box F1 | Joskus (5–29%) | 1 sairaudessa |
| GP1BBglycoprotein Ib platelet subunit beta | Joskus (5–29%) | 1 sairaudessa |
| HIRAhistone cell cycle regulator | Joskus (5–29%) | 1 sairaudessa |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Joskus (5–29%) | 1 sairaudessa |
| IFT74intraflagellar transport 74 | Joskus (5–29%) | 2 sairaudessa |
| INPP5Einositol polyphosphate-5-phosphatase E | Joskus (5–29%) | 2 sairaudessa |
| JMJD1Cjumonji domain containing 1C | Joskus (5–29%) | 1 sairaudessa |
| KATNIPkatanin interacting protein | Joskus (5–29%) | 1 sairaudessa |
| KIAA0586KIAA0586 | Joskus (5–29%) | 1 sairaudessa |
| KIAA0753KIAA0753 | Joskus (5–29%) | 1 sairaudessa |
| KITKIT proto-oncogene, receptor tyrosine kinase | Joskus (5–29%) | 2 sairaudessa |
| KITLGKIT ligand | Joskus (5–29%) | 1 sairaudessa |
| LBX1ladybird homeobox 1 | Joskus (5–29%) | 1 sairaudessa |
| MAD2L2mitotic arrest deficient 2 like 2 | Joskus (5–29%) | 1 sairaudessa |
| MKKSMKKS centrosomal shuttling protein | Joskus (5–29%) | 3 sairaudessa |
| MKS1MKS transition zone complex subunit 1 | Joskus (5–29%) | 3 sairaudessa |
| MYO1Hmyosin IH | Joskus (5–29%) | 1 sairaudessa |
| NPHP1nephrocystin 1 | Joskus (5–29%) | 2 sairaudessa |
| OFD1OFD1 centriole and centriolar satellite protein | Joskus (5–29%) | 1 sairaudessa |
| PALB2partner and localizer of BRCA2 | Joskus (5–29%) | 1 sairaudessa |
| PAX3paired box 3 | Joskus (5–29%) | 2 sairaudessa |
| PDE6Dphosphodiesterase 6D | Joskus (5–29%) | 1 sairaudessa |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Joskus (5–29%) | 1 sairaudessa |
| PIBF1progesterone immunomodulatory binding factor 1 | Joskus (5–29%) | 1 sairaudessa |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Joskus (5–29%) | 1 sairaudessa |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Joskus (5–29%) | 1 sairaudessa |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Joskus (5–29%) | 2 sairaudessa |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Joskus (5–29%) | 1 sairaudessa |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Joskus (5–29%) | 1 sairaudessa |
| RAD51RAD51 recombinase | Joskus (5–29%) | 1 sairaudessa |
| RAD51CRAD51 paralog C | Joskus (5–29%) | 1 sairaudessa |
| RFWD3ring finger and WD repeat domain 3 | Joskus (5–29%) | 1 sairaudessa |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Joskus (5–29%) | 2 sairaudessa |
| RPGRIP1LRPGRIP1 like | Joskus (5–29%) | 1 sairaudessa |
| RREB1ras responsive element binding protein 1 | Joskus (5–29%) | 1 sairaudessa |
| SALL4spalt like transcription factor 4 | Joskus (5–29%) | 2 sairaudessa |
| SEC24CSEC24 homolog C, COPII component | Joskus (5–29%) | 1 sairaudessa |
| SETBP1SET binding protein 1 | Joskus (5–29%) | 1 sairaudessa |
| SLX4SLX4 structure-specific endonuclease subunit | Joskus (5–29%) | 1 sairaudessa |
| SNAI2snail family transcriptional repressor 2 | Joskus (5–29%) | 2 sairaudessa |
| SUFUSUFU negative regulator of hedgehog signaling | Joskus (5–29%) | 1 sairaudessa |
| TBX1T-box transcription factor 1 | Joskus (5–29%) | 1 sairaudessa |
| TCTN1tectonic family member 1 | Joskus (5–29%) | 1 sairaudessa |
| TCTN2tectonic family member 2 | Joskus (5–29%) | 1 sairaudessa |
| TCTN3tectonic family member 3 | Joskus (5–29%) | 1 sairaudessa |
| TMEM138transmembrane protein 138 | Joskus (5–29%) | 1 sairaudessa |
| TMEM216transmembrane protein 216 | Joskus (5–29%) | 1 sairaudessa |
| TMEM218transmembrane protein 218 | Joskus (5–29%) | 1 sairaudessa |
| TMEM231transmembrane protein 231 | Joskus (5–29%) | 1 sairaudessa |
| TMEM237transmembrane protein 237 | Joskus (5–29%) | 3 sairaudessa |
| TMEM67transmembrane protein 67 | Joskus (5–29%) | 1 sairaudessa |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Joskus (5–29%) | 1 sairaudessa |
| TYRtyrosinase | Joskus (5–29%) | 1 sairaudessa |
| UBE2Tubiquitin conjugating enzyme E2 T | Joskus (5–29%) | 1 sairaudessa |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Joskus (5–29%) | 1 sairaudessa |
| XRCC2X-ray repair cross complementing 2 | Joskus (5–29%) | 1 sairaudessa |
| ZNF423zinc finger protein 423 | Joskus (5–29%) | 1 sairaudessa |
| APC2APC regulator of Wnt signaling pathway 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| BBIP1BBSome interacting protein 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| BBS10Bardet-Biedl syndrome 10 | Harvinainen (1–4 %) | 1 sairaudessa |
| BBS12Bardet-Biedl syndrome 12 | Harvinainen (1–4 %) | 1 sairaudessa |
| BBS2Bardet-Biedl syndrome 2 | Harvinainen (1–4 %) | 1 sairaudessa |
| BBS4Bardet-Biedl syndrome 4 | Harvinainen (1–4 %) | 1 sairaudessa |
| BBS5Bardet-Biedl syndrome 5 | Harvinainen (1–4 %) | 1 sairaudessa |
| BBS7Bardet-Biedl syndrome 7 | Harvinainen (1–4 %) | 1 sairaudessa |
| BBS9Bardet-Biedl syndrome 9 | Harvinainen (1–4 %) | 1 sairaudessa |
| CEP19centrosomal protein 19 | Harvinainen (1–4 %) | 1 sairaudessa |
| CFAP418cilia and flagella associated protein 418 | Harvinainen (1–4 %) | 1 sairaudessa |
| IFT172intraflagellar transport 172 | Harvinainen (1–4 %) | 1 sairaudessa |
| IFT27intraflagellar transport 27 | Harvinainen (1–4 %) | 1 sairaudessa |
| LZTFL1leucine zipper transcription factor like 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| NSD1nuclear receptor binding SET domain protein 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| SCAPERS-phase cyclin A associated protein in the ER | Harvinainen (1–4 %) | 1 sairaudessa |
| SCLT1sodium channel and clathrin linker 1 | Harvinainen (1–4 %) | 1 sairaudessa |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Harvinainen (1–4 %) | 1 sairaudessa |
| TCF4transcription factor 4 | Harvinainen (1–4 %) | 1 sairaudessa |
| TRIM32tripartite motif containing 32 | Harvinainen (1–4 %) | 1 sairaudessa |
| TTC8tetratricopeptide repeat domain 8 | Harvinainen (1–4 %) | 1 sairaudessa |
| TUBA1Atubulin alpha 1a | Harvinainen (1–4 %) | 1 sairaudessa |
| WDPCPWD repeat containing planar cell polarity effector | Harvinainen (1–4 %) | 1 sairaudessa |
| BCORBCL6 corepressor | Ei kirjattu | 1 sairaudessa |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Ei kirjattu | 1 sairaudessa |
| SF3B4splicing factor 3b subunit 4 | Ei kirjattu | 1 sairaudessa |
Kuinka usein ilmiö esiintyy ihmisillä, joilla on jokin geenin sairauksista, niin kuin Human Phenotype Ontology sen kirjaa. Nämä sivut kuvaavat piirteitä ja niiden taustalla olevaa tutkimusta, eivätkä ne ole diagnoosi. Oireista kannattaa kysyä lääkäriltä tai geneettiseltä neuvojalta.
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Mistä tämä tieto tulee
- Human Phenotype Ontology, julkaisu 2026-09-01: piirre, sen nimet, määritelmä ja siihen liitetyt geenit. Lue lisää osoitteesta hpo.jax.org.
- Tietojulkaisu 2026.10.16-c6eea6bf.
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