Egenskap
Intestinal malrotation
An abnormality of the intestinal rotation and fixation that normally occurs during the development of the gut. This can lead to volvulus, or twisting of the intestine that causes obstruction and necrosis.
Sammendrag
- Også kalt
- Malrotation
- Kroppssystem
- Abnormality of the digestive system
ReferansegenomGRCh38hg38
Posisjoner på gen- og variantsidene følger dette valget i denne nettleseren.
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Få mitt Genome Test152 gener knyttet til Intestinal malrotation
Endringer i disse genene forårsaker sjeldne tilstander der Intestinal malrotation forekommer. De fleste med denne egenskapen har ingen av disse tilstandene, og et gen på denne listen sier ingenting om noens eget genom.
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| ACTG2actin gamma 2, smooth muscle | Alltid | I 2 tilstander |
| CLMPCXADR like cell adhesion molecule | Alltid | I 2 tilstander |
| DAND5DAN domain BMP antagonist family member 5 | Alltid | I 1 tilstand |
| MED12mediator complex subunit 12 | Alltid | I 3 tilstander |
| SLC12A2solute carrier family 12 member 2 | Alltid | I 1 tilstand |
| ZFPM2zinc finger protein, FOG family member 2 | Alltid | I 2 tilstander |
| ACTA2actin alpha 2, smooth muscle | Ofte (30–79 %) | I 1 tilstand |
| CFAP45cilia and flagella associated protein 45 | Ofte (30–79 %) | I 1 tilstand |
| CFC1cryptic, EGF-CFC family member 1 | Ofte (30–79 %) | I 1 tilstand |
| EXT2exostosin glycosyltransferase 2 | Ofte (30–79 %) | I 1 tilstand |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Ofte (30–79 %) | I 1 tilstand |
| FLNAfilamin A | Ofte (30–79 %) | I 2 tilstander |
| FOXF1forkhead box F1 | Ofte (30–79 %) | I 2 tilstander |
| GATA6GATA binding protein 6 | Ofte (30–79 %) | I 3 tilstander |
| IFT43intraflagellar transport 43 | Ofte (30–79 %) | I 1 tilstand |
| IRF1interferon regulatory factor 1 | Ofte (30–79 %) | I 1 tilstand |
| LMOD1leiomodin 1 | Ofte (30–79 %) | I 1 tilstand |
| LONP1lon peptidase 1, mitochondrial | Ofte (30–79 %) | I 1 tilstand |
| MYH11myosin heavy chain 11 | Ofte (30–79 %) | I 2 tilstander |
| MYLKmyosin light chain kinase | Ofte (30–79 %) | I 2 tilstander |
| MYRFmyelin regulatory factor | Ofte (30–79 %) | I 1 tilstand |
| NPHP3nephrocystin 3 | Ofte (30–79 %) | I 2 tilstander |
| RAD21RAD21 cohesin complex component | Ofte (30–79 %) | I 2 tilstander |
| RFX6regulatory factor X6 | Ofte (30–79 %) | I 1 tilstand |
| ROBO1roundabout guidance receptor 1 | Ofte (30–79 %) | I 1 tilstand |
| SMOsmoothened, frizzled class receptor | Ofte (30–79 %) | I 2 tilstander |
| TBC1D32TBC1 domain family member 32 | Ofte (30–79 %) | I 1 tilstand |
| ZPR1ZPR1 zinc finger | Ofte (30–79 %) | I 1 tilstand |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Noen ganger (5–29 %) | I 1 tilstand |
| ARVCFARVCF delta catenin family member | Noen ganger (5–29 %) | I 1 tilstand |
| ASXL3ASXL transcriptional regulator 3 | Noen ganger (5–29 %) | I 1 tilstand |
| BCORBCL6 corepressor | Noen ganger (5–29 %) | I 1 tilstand |
| BRD4bromodomain containing 4 | Noen ganger (5–29 %) | I 1 tilstand |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Noen ganger (5–29 %) | I 1 tilstand |
| CCDC22CCC complex scaffolding subunit CCDC22 | Noen ganger (5–29 %) | I 2 tilstander |
| CHRM3cholinergic receptor muscarinic 3 | Noen ganger (5–29 %) | I 1 tilstand |
| CIROZciliated left-right organizer protein containing ZP-N domains | Noen ganger (5–29 %) | I 1 tilstand |
| COMTcatechol-O-methyltransferase | Noen ganger (5–29 %) | I 1 tilstand |
| DHCR2424-dehydrocholesterol reductase | Noen ganger (5–29 %) | I 1 tilstand |
| DPYSL5dihydropyrimidinase like 5 | Noen ganger (5–29 %) | I 1 tilstand |
Vis 112 gener til
| Gen | Hvor ofte den forekommer | Tilstander |
|---|---|---|
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Noen ganger (5–29 %) | I 1 tilstand |
| FBN2fibrillin 2 | Noen ganger (5–29 %) | I 1 tilstand |
| FBXO22F-box protein 22 | Noen ganger (5–29 %) | I 1 tilstand |
| FGFR2fibroblast growth factor receptor 2 | Noen ganger (5–29 %) | I 2 tilstander |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Noen ganger (5–29 %) | I 1 tilstand |
| FREM2FRAS1 related extracellular matrix 2 | Noen ganger (5–29 %) | I 1 tilstand |
| GP1BBglycoprotein Ib platelet subunit beta | Noen ganger (5–29 %) | I 1 tilstand |
| HDAC8histone deacetylase 8 | Noen ganger (5–29 %) | I 1 tilstand |
| HIRAhistone cell cycle regulator | Noen ganger (5–29 %) | I 1 tilstand |
| HMGA2high mobility group AT-hook 2 | Noen ganger (5–29 %) | I 1 tilstand |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Noen ganger (5–29 %) | I 1 tilstand |
| IPO8importin 8 | Noen ganger (5–29 %) | I 1 tilstand |
| ISL1ISL LIM homeobox 1 | Noen ganger (5–29 %) | I 1 tilstand |
| JMJD1Cjumonji domain containing 1C | Noen ganger (5–29 %) | I 1 tilstand |
| KAT6Alysine acetyltransferase 6A | Noen ganger (5–29 %) | I 2 tilstander |
| LEMD3LEM domain containing 3 | Noen ganger (5–29 %) | I 1 tilstand |
| LRP2LDL receptor related protein 2 | Noen ganger (5–29 %) | I 2 tilstander |
| MAU2MAU2 sister chromatid cohesion factor | Noen ganger (5–29 %) | I 1 tilstand |
| NEK1NIMA related kinase 1 | Noen ganger (5–29 %) | I 1 tilstand |
| NIPBLNIPBL cohesin loading factor | Noen ganger (5–29 %) | I 1 tilstand |
| NODALnodal growth differentiation factor | Noen ganger (5–29 %) | I 1 tilstand |
| NOTCH2notch receptor 2 | Noen ganger (5–29 %) | I 2 tilstander |
| PI4KAphosphatidylinositol 4-kinase alpha | Noen ganger (5–29 %) | I 1 tilstand |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Noen ganger (5–29 %) | I 1 tilstand |
| PORCNporcupine O-acyltransferase | Noen ganger (5–29 %) | I 2 tilstander |
| RARBretinoic acid receptor beta | Noen ganger (5–29 %) | I 1 tilstand |
| RREB1ras responsive element binding protein 1 | Noen ganger (5–29 %) | I 1 tilstand |
| SEC24CSEC24 homolog C, COPII component | Noen ganger (5–29 %) | I 1 tilstand |
| SMAD2SMAD family member 2 | Noen ganger (5–29 %) | I 1 tilstand |
| SMC1Astructural maintenance of chromosomes 1A | Noen ganger (5–29 %) | I 1 tilstand |
| SMC3structural maintenance of chromosomes 3 | Noen ganger (5–29 %) | I 1 tilstand |
| SPINT2serine peptidase inhibitor, Kunitz type 2 | Noen ganger (5–29 %) | I 1 tilstand |
| TBX1T-box transcription factor 1 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM216transmembrane protein 216 | Noen ganger (5–29 %) | I 1 tilstand |
| TMEM94transmembrane protein 94 | Noen ganger (5–29 %) | I 1 tilstand |
| TP63tumor protein p63 | Noen ganger (5–29 %) | I 1 tilstand |
| TTC7Atetratricopeptide repeat domain 7A | Noen ganger (5–29 %) | I 2 tilstander |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Noen ganger (5–29 %) | I 1 tilstand |
| VPS35LVPS35 endosomal protein sorting factor like | Noen ganger (5–29 %) | I 1 tilstand |
| WASHC5WASH complex subunit 5 | Noen ganger (5–29 %) | I 1 tilstand |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Sjelden (1–4%) | I 1 tilstand |
| BRWD1bromodomain and WD repeat domain containing 1 | Sjelden (1–4%) | I 1 tilstand |
| CCDC39coiled-coil domain 39 molecular ruler complex subunit | Sjelden (1–4%) | I 1 tilstand |
| CCDC40coiled-coil domain 40 molecular ruler complex subunit | Sjelden (1–4%) | I 1 tilstand |
| CCNOcyclin O | Sjelden (1–4%) | I 1 tilstand |
| CFAP221cilia and flagella associated protein 221 | Sjelden (1–4%) | I 1 tilstand |
| CFAP298cilia and flagella associated protein 298 | Sjelden (1–4%) | I 1 tilstand |
| CFAP300cilia and flagella associated protein 300 | Sjelden (1–4%) | I 1 tilstand |
| CFAP74cilia and flagella associated protein 74 | Sjelden (1–4%) | I 1 tilstand |
| CLXNcalaxin | Sjelden (1–4%) | I 1 tilstand |
| CREBBPCREB binding lysine acetyltransferase | Sjelden (1–4%) | I 2 tilstander |
| DAW1dynein assembly factor with WD repeats 1 | Sjelden (1–4%) | I 1 tilstand |
| DNAAF1dynein axonemal assembly factor 1 | Sjelden (1–4%) | I 1 tilstand |
| DNAAF11dynein axonemal assembly factor 11 | Sjelden (1–4%) | I 1 tilstand |
| DNAAF19dynein axonemal assembly factor 19 | Sjelden (1–4%) | I 1 tilstand |
| DNAAF2dynein axonemal assembly factor 2 | Sjelden (1–4%) | I 1 tilstand |
| DNAAF3dynein axonemal assembly factor 3 | Sjelden (1–4%) | I 1 tilstand |
| DNAAF4dynein axonemal assembly factor 4 | Sjelden (1–4%) | I 1 tilstand |
| DNAAF5dynein axonemal assembly factor 5 | Sjelden (1–4%) | I 1 tilstand |
| DNAAF6dynein axonemal assembly factor 6 | Sjelden (1–4%) | I 1 tilstand |
| DNAH1dynein axonemal heavy chain 1 | Sjelden (1–4%) | I 1 tilstand |
| DNAH11dynein axonemal heavy chain 11 | Sjelden (1–4%) | I 1 tilstand |
| DNAH5dynein axonemal heavy chain 5 | Sjelden (1–4%) | I 1 tilstand |
| DNAH7dynein axonemal heavy chain 7 | Sjelden (1–4%) | I 1 tilstand |
| DNAH9dynein axonemal heavy chain 9 | Sjelden (1–4%) | I 1 tilstand |
| DNAI1dynein axonemal intermediate chain 1 | Sjelden (1–4%) | I 1 tilstand |
| DNAI2dynein axonemal intermediate chain 2 | Sjelden (1–4%) | I 1 tilstand |
| DNAJB13DnaJ heat shock protein family (Hsp40) member B13 | Sjelden (1–4%) | I 1 tilstand |
| DNAL1dynein axonemal light chain 1 | Sjelden (1–4%) | I 1 tilstand |
| DRC1dynein regulatory complex subunit 1 | Sjelden (1–4%) | I 1 tilstand |
| DRC2dynein regulatory complex subunit 2 | Sjelden (1–4%) | I 1 tilstand |
| DRC4dynein regulatory complex subunit 4 | Sjelden (1–4%) | I 1 tilstand |
| EP300EP300 lysine acetyltransferase | Sjelden (1–4%) | I 2 tilstander |
| FOXJ1forkhead box J1 | Sjelden (1–4%) | I 1 tilstand |
| GAS2L2growth arrest specific 2 like 2 | Sjelden (1–4%) | I 1 tilstand |
| HYDINHYDIN axonemal central pair apparatus protein | Sjelden (1–4%) | I 1 tilstand |
| LRRC56leucine rich repeat containing 56 | Sjelden (1–4%) | I 1 tilstand |
| MCIDASmulticiliate differentiation and DNA synthesis associated cell cycle protein | Sjelden (1–4%) | I 1 tilstand |
| NEK10NIMA related kinase 10 | Sjelden (1–4%) | I 1 tilstand |
| NME5NME/NM23 family member 5 | Sjelden (1–4%) | I 1 tilstand |
| NME8NME/NM23 family member 8 | Sjelden (1–4%) | I 1 tilstand |
| ODAD1outer dynein arm docking complex subunit 1 | Sjelden (1–4%) | I 1 tilstand |
| ODAD2outer dynein arm docking complex subunit 2 | Sjelden (1–4%) | I 1 tilstand |
| ODAD3outer dynein arm docking complex subunit 3 | Sjelden (1–4%) | I 1 tilstand |
| ODAD4outer dynein arm docking complex subunit 4 | Sjelden (1–4%) | I 1 tilstand |
| OFD1OFD1 centriole and centriolar satellite protein | Sjelden (1–4%) | I 1 tilstand |
| RPGRretinitis pigmentosa GTPase regulator | Sjelden (1–4%) | I 1 tilstand |
| RSPH1radial spoke head component 1 | Sjelden (1–4%) | I 1 tilstand |
| RSPH3radial spoke head 3 | Sjelden (1–4%) | I 1 tilstand |
| RSPH4Aradial spoke head component 4A | Sjelden (1–4%) | I 1 tilstand |
| RSPH9radial spoke head component 9 | Sjelden (1–4%) | I 1 tilstand |
| SPAG1sperm associated antigen 1 | Sjelden (1–4%) | I 1 tilstand |
| SPEF2sperm flagellar and cilia associated 2 | Sjelden (1–4%) | I 1 tilstand |
| STK36serine/threonine kinase 36 | Sjelden (1–4%) | I 1 tilstand |
| TTC12tetratricopeptide repeat domain 12 | Sjelden (1–4%) | I 1 tilstand |
| ZMYND10zinc finger MYND-type containing 10 | Sjelden (1–4%) | I 1 tilstand |
| AMER1APC membrane recruitment protein 1 | Ikke registrert | I 1 tilstand |
| ARID1BAT-rich interaction domain 1B | Ikke registrert | I 1 tilstand |
| ASXL1ASXL transcriptional regulator 1 | Ikke registrert | I 1 tilstand |
| CENPFcentromere protein F | Ikke registrert | I 1 tilstand |
| CHST14carbohydrate sulfotransferase 14 | Ikke registrert | I 1 tilstand |
| DHCR77-dehydrocholesterol reductase | Ikke registrert | I 1 tilstand |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Ikke registrert | I 1 tilstand |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Ikke registrert | I 1 tilstand |
| GPC3glypican 3 | Ikke registrert | I 1 tilstand |
| KDM6Alysine demethylase 6A | Ikke registrert | I 1 tilstand |
| KMT2Dlysine methyltransferase 2D | Ikke registrert | I 1 tilstand |
| MKS1MKS transition zone complex subunit 1 | Ikke registrert | I 1 tilstand |
| MMP21matrix metallopeptidase 21 | Ikke registrert | I 1 tilstand |
| SALL4spalt like transcription factor 4 | Ikke registrert | I 1 tilstand |
| SIX1SIX homeobox 1 | Ikke registrert | I 1 tilstand |
| UBE3Bubiquitin protein ligase E3B | Ikke registrert | I 1 tilstand |
Hvor ofte dette forekommer hos personer med en av genets tilstander, oppgitt som den hyppigste forekomsten blant dem, slik Human Phenotype Ontology registrerer den. Disse sidene beskriver egenskaper og forskningen bak dem. De er ikke en diagnose, og om symptomer bør du spørre lege eller genetisk rådgiver.
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Slik er informasjonen samlet
- Human Phenotype Ontology, versjon 2026-09-01: egenskapen, navnene på den, definisjonen og genene som er knyttet til den. Les mer på hpo.jax.org.
- Datautgave 2026.10.16-c6eea6bf.
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Fra 449 $Gratis frakt · Resultater på 6–8 uker