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Kenmerk
Enlarged colon lacking nerve cells
Klinische naam: 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.
Samenvatting
- Ook bekend als
- Hirschsprung megacolon
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Deze pagina als gegevens
Voeg .json toe aan het adres van de pagina, of vraag application/json aan, om haar als JSON te lezen.
library(jsonlite)
url <- "https://dantelabs.com/traits/aganglionic-megacolon.json"
page <- fromJSON(url)
page$trait$nameEnlarged colon lacking nerve cellsHP:0002251
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Mijn Genome Test bestellen151 genen gekoppeld aan Enlarged colon lacking nerve cells
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Enlarged colon lacking nerve cells voorkomt. De meeste mensen met dit kenmerk hebben geen van die aandoeningen, en een gen op deze lijst zegt niets over het eigen genoom van iemand.
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| ECE1endothelin converting enzyme 1 | Altijd | In 2 aandoeningen |
| EDN3endothelin 3 | Altijd | In 5 aandoeningen |
| EDNRBendothelin receptor type B | Altijd | In 6 aandoeningen |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Altijd | In 2 aandoeningen |
| GDNFglial cell derived neurotrophic factor | Altijd | In 3 aandoeningen |
| ABCD1ATP binding cassette subfamily D member 1 | Heel vaak (80–99%) | In 1 aandoening |
| ASCL1achaete-scute family bHLH transcription factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| ATP7AATPase copper transporting alpha | Heel vaak (80–99%) | In 1 aandoening |
| ERBB2erb-b2 receptor tyrosine kinase 2 | Heel vaak (80–99%) | In 1 aandoening |
| KIFBPkinesin family binding protein | Heel vaak (80–99%) | In 2 aandoeningen |
| MITFmelanocyte inducing transcription factor | Heel vaak (80–99%) | In 2 aandoeningen |
| NRTNneurturin | Heel vaak (80–99%) | In 1 aandoening |
| PHOX2Bpaired like homeobox 2B | Heel vaak (80–99%) | In 5 aandoeningen |
| RETret proto-oncogene | Heel vaak (80–99%) | In 5 aandoeningen |
| SEMA3Csemaphorin 3C | Heel vaak (80–99%) | In 1 aandoening |
| SEMA3Dsemaphorin 3D | Heel vaak (80–99%) | In 1 aandoening |
| SMOsmoothened, frizzled class receptor | Heel vaak (80–99%) | In 1 aandoening |
| SOX10SRY-box transcription factor 10 | Heel vaak (80–99%) | In 5 aandoeningen |
| SREBF1sterol regulatory element binding transcription factor 1 | Heel vaak (80–99%) | In 1 aandoening |
| DDX3XDEAD-box helicase 3 X-linked | Vaak (30–79%) | In 1 aandoening |
| KRASKRas proto-oncogene, GTPase | Vaak (30–79%) | In 1 aandoening |
| L1CAML1 cell adhesion molecule | Vaak (30–79%) | In 2 aandoeningen |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Vaak (30–79%) | In 3 aandoeningen |
| PGAP2post-GPI attachment to proteins 2 | Vaak (30–79%) | In 2 aandoeningen |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Vaak (30–79%) | In 2 aandoeningen |
| SH2B1SH2B adaptor protein 1 | Vaak (30–79%) | In 1 aandoening |
| SLC6A8solute carrier family 6 member 8 | Vaak (30–79%) | In 2 aandoeningen |
| ZEB2zinc finger E-box binding homeobox 2 | Vaak (30–79%) | In 3 aandoeningen |
| ACTG2actin gamma 2, smooth muscle | Soms (5–29%) | In 2 aandoeningen |
| AHI1Abelson helper integration site 1 | Soms (5–29%) | In 2 aandoeningen |
| ARL13BARF like GTPase 13B | Soms (5–29%) | In 1 aandoening |
| ARL3ARF like GTPase 3 | Soms (5–29%) | In 1 aandoening |
| ARL6ARF like GTPase 6 | Soms (5–29%) | In 2 aandoeningen |
| ARMC9armadillo repeat containing 9 | Soms (5–29%) | In 1 aandoening |
| ARVCFARVCF delta catenin family member | Soms (5–29%) | In 1 aandoening |
| ARXaristaless related homeobox | Soms (5–29%) | In 1 aandoening |
| ATRXATRX chromatin remodeler | Soms (5–29%) | In 1 aandoening |
| B9D1B9 domain containing 1 | Soms (5–29%) | In 1 aandoening |
| B9D2B9 domain containing 2 | Soms (5–29%) | In 1 aandoening |
| BBS1Bardet-Biedl syndrome 1 | Soms (5–29%) | In 2 aandoeningen |
Toon nog 111 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| BDNFbrain derived neurotrophic factor | Soms (5–29%) | In 1 aandoening |
| BRCA1BRCA1 DNA repair associated | Soms (5–29%) | In 1 aandoening |
| BRCA2BRCA2 DNA repair associated | Soms (5–29%) | In 1 aandoening |
| BRIP1BRCA1 interacting DNA helicase 1 | Soms (5–29%) | In 1 aandoening |
| CBY1chibby 1, beta catenin antagonist | Soms (5–29%) | In 1 aandoening |
| CC2D2Acoiled-coil and C2 domain containing 2A | Soms (5–29%) | In 1 aandoening |
| CCDC28Bcoiled-coil domain containing 28B | Soms (5–29%) | In 1 aandoening |
| CEP104centrosomal protein 104 | Soms (5–29%) | In 1 aandoening |
| CEP120centrosomal protein 120 | Soms (5–29%) | In 2 aandoeningen |
| CEP290centrosomal protein 290 | Soms (5–29%) | In 2 aandoeningen |
| CEP41centrosomal protein 41 | Soms (5–29%) | In 2 aandoeningen |
| COMTcatechol-O-methyltransferase | Soms (5–29%) | In 1 aandoening |
| CPLANE1ciliogenesis and planar polarity effector complex subunit 1 | Soms (5–29%) | In 1 aandoening |
| CSPP1centrosome and spindle pole associated protein 1 | Soms (5–29%) | In 1 aandoening |
| DDX59DEAD-box helicase 59 | Soms (5–29%) | In 2 aandoeningen |
| DHCR77-dehydrocholesterol reductase | Soms (5–29%) | In 2 aandoeningen |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Soms (5–29%) | In 1 aandoening |
| FAAP100FA core complex associated protein 100 | Soms (5–29%) | In 1 aandoening |
| FANCAFA complementation group A | Soms (5–29%) | In 1 aandoening |
| FANCBFA complementation group B | Soms (5–29%) | In 1 aandoening |
| FANCCFA complementation group C | Soms (5–29%) | In 1 aandoening |
| FANCD2FA complementation group D2 | Soms (5–29%) | In 1 aandoening |
| FANCEFA complementation group E | Soms (5–29%) | In 1 aandoening |
| FANCFFA complementation group F | Soms (5–29%) | In 1 aandoening |
| FANCGFA complementation group G | Soms (5–29%) | In 1 aandoening |
| FANCIFA complementation group I | Soms (5–29%) | In 1 aandoening |
| FANCLFA complementation group L | Soms (5–29%) | In 1 aandoening |
| FANCMFA complementation group M | Soms (5–29%) | In 1 aandoening |
| FOXF1forkhead box F1 | Soms (5–29%) | In 1 aandoening |
| GP1BBglycoprotein Ib platelet subunit beta | Soms (5–29%) | In 1 aandoening |
| HIRAhistone cell cycle regulator | Soms (5–29%) | In 1 aandoening |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Soms (5–29%) | In 1 aandoening |
| IFT74intraflagellar transport 74 | Soms (5–29%) | In 2 aandoeningen |
| INPP5Einositol polyphosphate-5-phosphatase E | Soms (5–29%) | In 2 aandoeningen |
| JMJD1Cjumonji domain containing 1C | Soms (5–29%) | In 1 aandoening |
| KATNIPkatanin interacting protein | Soms (5–29%) | In 1 aandoening |
| KIAA0586KIAA0586 | Soms (5–29%) | In 1 aandoening |
| KIAA0753KIAA0753 | Soms (5–29%) | In 1 aandoening |
| KITKIT proto-oncogene, receptor tyrosine kinase | Soms (5–29%) | In 2 aandoeningen |
| KITLGKIT ligand | Soms (5–29%) | In 1 aandoening |
| LBX1ladybird homeobox 1 | Soms (5–29%) | In 1 aandoening |
| MAD2L2mitotic arrest deficient 2 like 2 | Soms (5–29%) | In 1 aandoening |
| MKKSMKKS centrosomal shuttling protein | Soms (5–29%) | In 3 aandoeningen |
| MKS1MKS transition zone complex subunit 1 | Soms (5–29%) | In 3 aandoeningen |
| MYO1Hmyosin IH | Soms (5–29%) | In 1 aandoening |
| NPHP1nephrocystin 1 | Soms (5–29%) | In 2 aandoeningen |
| OFD1OFD1 centriole and centriolar satellite protein | Soms (5–29%) | In 1 aandoening |
| PALB2partner and localizer of BRCA2 | Soms (5–29%) | In 1 aandoening |
| PAX3paired box 3 | Soms (5–29%) | In 2 aandoeningen |
| PDE6Dphosphodiesterase 6D | Soms (5–29%) | In 1 aandoening |
| PGAP3post-GPI attachment to proteins phospholipase 3 | Soms (5–29%) | In 1 aandoening |
| PIBF1progesterone immunomodulatory binding factor 1 | Soms (5–29%) | In 1 aandoening |
| PIGLphosphatidylinositol glycan anchor biosynthesis class L | Soms (5–29%) | In 1 aandoening |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Soms (5–29%) | In 1 aandoening |
| PIGVphosphatidylinositol glycan anchor biosynthesis class V | Soms (5–29%) | In 2 aandoeningen |
| PIGWphosphatidylinositol glycan anchor biosynthesis class W | Soms (5–29%) | In 1 aandoening |
| PIGYphosphatidylinositol glycan anchor biosynthesis class Y | Soms (5–29%) | In 1 aandoening |
| RAD51RAD51 recombinase | Soms (5–29%) | In 1 aandoening |
| RAD51CRAD51 paralog C | Soms (5–29%) | In 1 aandoening |
| RFWD3ring finger and WD repeat domain 3 | Soms (5–29%) | In 1 aandoening |
| RMRPRNA component of mitochondrial RNA processing endoribonuclease | Soms (5–29%) | In 2 aandoeningen |
| RPGRIP1LRPGRIP1 like | Soms (5–29%) | In 1 aandoening |
| RREB1ras responsive element binding protein 1 | Soms (5–29%) | In 1 aandoening |
| SALL4spalt like transcription factor 4 | Soms (5–29%) | In 2 aandoeningen |
| SEC24CSEC24 homolog C, COPII component | Soms (5–29%) | In 1 aandoening |
| SETBP1SET binding protein 1 | Soms (5–29%) | In 1 aandoening |
| SLX4SLX4 structure-specific endonuclease subunit | Soms (5–29%) | In 1 aandoening |
| SNAI2snail family transcriptional repressor 2 | Soms (5–29%) | In 2 aandoeningen |
| SUFUSUFU negative regulator of hedgehog signaling | Soms (5–29%) | In 1 aandoening |
| TBX1T-box transcription factor 1 | Soms (5–29%) | In 1 aandoening |
| TCTN1tectonic family member 1 | Soms (5–29%) | In 1 aandoening |
| TCTN2tectonic family member 2 | Soms (5–29%) | In 1 aandoening |
| TCTN3tectonic family member 3 | Soms (5–29%) | In 1 aandoening |
| TMEM138transmembrane protein 138 | Soms (5–29%) | In 1 aandoening |
| TMEM216transmembrane protein 216 | Soms (5–29%) | In 1 aandoening |
| TMEM218transmembrane protein 218 | Soms (5–29%) | In 1 aandoening |
| TMEM231transmembrane protein 231 | Soms (5–29%) | In 1 aandoening |
| TMEM237transmembrane protein 237 | Soms (5–29%) | In 3 aandoeningen |
| TMEM67transmembrane protein 67 | Soms (5–29%) | In 1 aandoening |
| TOGARAM1TOG array regulator of axonemal microtubules 1 | Soms (5–29%) | In 1 aandoening |
| TYRtyrosinase | Soms (5–29%) | In 1 aandoening |
| UBE2Tubiquitin conjugating enzyme E2 T | Soms (5–29%) | In 1 aandoening |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Soms (5–29%) | In 1 aandoening |
| XRCC2X-ray repair cross complementing 2 | Soms (5–29%) | In 1 aandoening |
| ZNF423zinc finger protein 423 | Soms (5–29%) | In 1 aandoening |
| APC2APC regulator of Wnt signaling pathway 2 | Zelden (1–4%) | In 1 aandoening |
| BBIP1BBSome interacting protein 1 | Zelden (1–4%) | In 1 aandoening |
| BBS10Bardet-Biedl syndrome 10 | Zelden (1–4%) | In 1 aandoening |
| BBS12Bardet-Biedl syndrome 12 | Zelden (1–4%) | In 1 aandoening |
| BBS2Bardet-Biedl syndrome 2 | Zelden (1–4%) | In 1 aandoening |
| BBS4Bardet-Biedl syndrome 4 | Zelden (1–4%) | In 1 aandoening |
| BBS5Bardet-Biedl syndrome 5 | Zelden (1–4%) | In 1 aandoening |
| BBS7Bardet-Biedl syndrome 7 | Zelden (1–4%) | In 1 aandoening |
| BBS9Bardet-Biedl syndrome 9 | Zelden (1–4%) | In 1 aandoening |
| CEP19centrosomal protein 19 | Zelden (1–4%) | In 1 aandoening |
| CFAP418cilia and flagella associated protein 418 | Zelden (1–4%) | In 1 aandoening |
| IFT172intraflagellar transport 172 | Zelden (1–4%) | In 1 aandoening |
| IFT27intraflagellar transport 27 | Zelden (1–4%) | In 1 aandoening |
| LZTFL1leucine zipper transcription factor like 1 | Zelden (1–4%) | In 1 aandoening |
| NSD1nuclear receptor binding SET domain protein 1 | Zelden (1–4%) | In 1 aandoening |
| SCAPERS-phase cyclin A associated protein in the ER | Zelden (1–4%) | In 1 aandoening |
| SCLT1sodium channel and clathrin linker 1 | Zelden (1–4%) | In 1 aandoening |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Zelden (1–4%) | In 1 aandoening |
| TCF4transcription factor 4 | Zelden (1–4%) | In 1 aandoening |
| TRIM32tripartite motif containing 32 | Zelden (1–4%) | In 1 aandoening |
| TTC8tetratricopeptide repeat domain 8 | Zelden (1–4%) | In 1 aandoening |
| TUBA1Atubulin alpha 1a | Zelden (1–4%) | In 1 aandoening |
| WDPCPWD repeat containing planar cell polarity effector | Zelden (1–4%) | In 1 aandoening |
| BCORBCL6 corepressor | Niet vastgelegd | In 1 aandoening |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Niet vastgelegd | In 1 aandoening |
| SF3B4splicing factor 3b subunit 4 | Niet vastgelegd | In 1 aandoening |
Hoe vaak dit voorkomt bij mensen met een van de aandoeningen van het gen, de hoogste frequentie binnen die aandoeningen, zoals de Human Phenotype Ontology dit vastlegt. Deze pagina's beschrijven kenmerken en het onderzoek erachter; het zijn geen diagnose, en over symptomen kunt u het best een arts of genetisch adviseur raadplegen.
Smallere kenmerken
Bredere kenmerken
Waar dit vandaan komt
- De Human Phenotype Ontology, release 2026-09-01: het kenmerk, de namen, de definitie en de genen die ermee verbonden zijn. Meer informatie vindt u op hpo.jax.org.
- Gegevensrelease 2026.10.17-8666dff2.
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