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Kenmerk
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.
Samenvatting
- Ook bekend als
- Malrotation
- Lichaamssysteem
- Abnormality of the digestive system
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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/intestinal-malrotation.json"
page <- fromJSON(url)
page$trait$nameIntestinal malrotationHP:0002566
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Lees de genen die aan Intestinal malrotation gekoppeld zijn, en de rest van uw genoom, met één test.
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Mijn Genome Test bestellen67 condition reports read genes linked to this trait
Dante Labs condition reports look at the genes behind groups of inherited conditions, read from one whole-genome test. Each page says which conditions and genes a report covers, how it is read and what it cannot tell you.
- Primary Ciliary DyskinesiaReads 47 of these genesCCDC39CCDC40CCNOCFAP221CFAP298CFAP300About this report →
- Cornelia de Lange SyndromeReads 6 of these genesRAD21BRD4HDAC8NIPBLSMC1ASMC3About this report →
- Hereditary Visceral Myopathy, CIPO & MMIHSReads 5 of these genesACTG2FLNAMYH11MYLKERBB3About this report →
- Congenital Intestinal Atresia & Short BowelReads 2 of these genesCLMPTTC7AAbout this report →
Show 63 more reports
- Kabuki SyndromeReads 2 of these genesKDM6AKMT2DAbout this report →
- Heterotaxy & Laterality DefectsReads 4 of these genesCFC1NODALDAW1MMP21About this report →
- Branchio-Oto-Renal Spectrum DisorderReads 2 of these genesEYA1SIX1About this report →
- 22q11.2 Deletion SyndromeReads 1 of these genesTBX1About this report →
- Alveolar Capillary Dysplasia with Misalignment of Pulmonary VeinsReads 1 of these genesFOXF1About this report →
- Amyotrophic Lateral Sclerosis Susceptibility 24 (NEK1)Reads 1 of these genesNEK1About this report →
- Bent Bone Dysplasia Syndrome (FGFR2)Reads 1 of these genesFGFR2About this report →
- Cardiac-Urogenital SyndromeReads 1 of these genesMYRFAbout this report →
- Curry-Jones Syndrome (Mosaic SMO Syndrome)Reads 1 of these genesSMOAbout this report →
- DesmosterolosisReads 1 of these genesDHCR24About this report →
- Focal Dermal Hypoplasia (Goltz Syndrome)Reads 1 of these genesPORCNAbout this report →
- Hajdu-Cheney SyndromeReads 1 of these genesNOTCH2About this report →
- Jeune Asphyxiating Thoracic Dystrophy (DYNC2H1)Reads 1 of these genesDYNC2H1About this report →
- Kaufman Oculocerebrofacial SyndromeReads 1 of these genesUBE3BAbout this report →
- OFD1-Related CiliopathyReads 1 of these genesOFD1About this report →
- Simpson-Golabi-Behmel SyndromeReads 1 of these genesGPC3About this report →
- Smith-Lemli-Opitz SyndromeReads 1 of these genesDHCR7About this report →
- TMEM94-Related Intellectual Disability with Heart DefectsReads 1 of these genesTMEM94About this report →
- Syndromic CraniosynostosisReads 4 of these genesIFT43SMOFGFR2KAT6AAbout this report →
- Aortic AneurysmReads 3 of these genesACTA2MYH11MYLKAbout this report →
- Alagille SyndromeReads 1 of these genesNOTCH2About this report →
- Hereditary Multiple OsteochondromasReads 1 of these genesEXT2About this report →
- Intellectual DisabilityReads 10 of these genesMED12ASXL3BRD4CAMK2AJMJD1CKAT6AAbout this report →
- Marfan Like SyndromesReads 2 of these genesFBN2SMAD2About this report →
- Congenital Anomalies of the Kidney and Urinary TractReads 2 of these genesEYA1SIX1About this report →
- Congenital Diaphragmatic Hernia (Monogenic)Reads 1 of these genesZFPM2About this report →
- Fraser SyndromeReads 1 of these genesFREM2About this report →
- Tetralogy of FallotReads 1 of these genesZFPM2About this report →
- Inherited Congenital Heart DefectsReads 2 of these genesFLNAGATA6About this report →
- Moyamoya DiseaseReads 1 of these genesACTA2About this report →
- Joubert Syndrome And Related DisordersReads 3 of these genesTMEM216OFD1MKS1About this report →
- Periventricular Nodular HeterotopiaReads 1 of these genesFLNAAbout this report →
- Loeys-Dietz SyndromeReads 1 of these genesSMAD2About this report →
- Congenital Disorders of GlycosylationReads 4 of these genesEXT2PIGNALG12CHST14About this report →
- Non-Acquired Combined Pituitary Hormone DeficiencyReads 2 of these genesROBO1SMOAbout this report →
- Microphthalmia, Anophthalmia & ColobomaReads 2 of these genesBCORRARBAbout this report →
- Ellis-van Creveld Syndrome and Cranioectodermal DysplasiaReads 1 of these genesIFT43About this report →
- Diabetes MellitusReads 2 of these genesGATA6RFX6About this report →
- Inherited ThrombocytopeniasReads 2 of these genesFLI1GP1BBAbout this report →
- Retinitis PigmentosaReads 3 of these genesIFT43OFD1RPGRAbout this report →
- Imprinting Disorders: Prader-Willi, Silver-Russell and Beckwith-WiedemannReads 1 of these genesHMGA2About this report →
- Inherited Platelet Function DisordersReads 1 of these genesGP1BBAbout this report →
- Meckel SyndromeReads 1 of these genesMKS1About this report →
- Male InfertilityReads 2 of these genesDNAH1SPEF2About this report →
- Coffin-Siris SyndromeReads 1 of these genesARID1BAbout this report →
- Congenital Diarrhoeas & EnteropathiesReads 1 of these genesSPINT2About this report →
- OsteopetrosisReads 1 of these genesAMER1About this report →
- Autosomal Recessive Cerebellar Ataxias (incl. CANVAS and AVED)Reads 2 of these genesTMEM216MKS1About this report →
- Ectodermal DysplasiasReads 1 of these genesTP63About this report →
- 46,XY Differences of Sex Development and Gonadal DysgenesisReads 1 of these genesZFPM2About this report →
- GPI Anchor Biosynthesis DefectsReads 1 of these genesPIGNAbout this report →
- Neonatal Diabetes MellitusReads 1 of these genesGATA6About this report →
- Nephronophthisis and Senior-Løken SyndromeReads 1 of these genesNPHP3About this report →
- Ehlers-Danlos SyndromeReads 1 of these genesCHST14About this report →
- Epilepsy (Full Panel)Reads 3 of these genesFLNAHNRNPUSMC1AAbout this report →
- Bardet-Biedl and Alström SyndromesReads 1 of these genesMKS1About this report →
- Hearing Loss and DeafnessReads 2 of these genesSLC12A2SIX1About this report →
- Inherited Neurodegenerative DisordersReads 3 of these genesTMEM216WASHC5MKS1About this report →
- Hypogonadotropic HypogonadismReads 1 of these genesROBO1About this report →
- Female InfertilityReads 1 of these genesTP63About this report →
- Other Inborn Errors of ImmunityReads 2 of these genesIRF1TBX1About this report →
- Hypertrophic CardiomyopathyReads 1 of these genesZFPM2About this report →
- Hereditary Spastic ParaplegiaReads 1 of these genesWASHC5About this report →
Lees de genen die aan Intestinal malrotation gekoppeld zijn, en de rest van uw genoom, met één test.
Vanaf $ 449Gratis verzending · Resultaten binnen 6–8 weken
Mijn Genome Test bestellen152 genen gekoppeld aan Intestinal malrotation
Veranderingen in deze genen veroorzaken zeldzame aandoeningen waarbij Intestinal malrotation 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 |
|---|---|---|
| ACTG2actin gamma 2, smooth muscle | Altijd | In 2 aandoeningen |
| CLMPCXADR like cell adhesion molecule | Altijd | In 2 aandoeningen |
| DAND5DAN domain BMP antagonist family member 5 | Altijd | In 1 aandoening |
| MED12mediator complex subunit 12 | Altijd | In 3 aandoeningen |
| SLC12A2solute carrier family 12 member 2 | Altijd | In 1 aandoening |
| ZFPM2zinc finger protein, FOG family member 2 | Altijd | In 2 aandoeningen |
| ACTA2actin alpha 2, smooth muscle | Vaak (30–79%) | In 1 aandoening |
| CFAP45cilia and flagella associated protein 45 | Vaak (30–79%) | In 1 aandoening |
| CFC1cryptic, EGF-CFC family member 1 | Vaak (30–79%) | In 1 aandoening |
| EXT2exostosin glycosyltransferase 2 | Vaak (30–79%) | In 1 aandoening |
| FARSBphenylalanyl-tRNA synthetase subunit beta | Vaak (30–79%) | In 1 aandoening |
| FLNAfilamin A | Vaak (30–79%) | In 2 aandoeningen |
| FOXF1forkhead box F1 | Vaak (30–79%) | In 2 aandoeningen |
| GATA6GATA binding protein 6 | Vaak (30–79%) | In 3 aandoeningen |
| IFT43intraflagellar transport 43 | Vaak (30–79%) | In 1 aandoening |
| IRF1interferon regulatory factor 1 | Vaak (30–79%) | In 1 aandoening |
| LMOD1leiomodin 1 | Vaak (30–79%) | In 1 aandoening |
| LONP1lon peptidase 1, mitochondrial | Vaak (30–79%) | In 1 aandoening |
| MYH11myosin heavy chain 11 | Vaak (30–79%) | In 2 aandoeningen |
| MYLKmyosin light chain kinase | Vaak (30–79%) | In 2 aandoeningen |
| MYRFmyelin regulatory factor | Vaak (30–79%) | In 1 aandoening |
| NPHP3nephrocystin 3 | Vaak (30–79%) | In 2 aandoeningen |
| RAD21RAD21 cohesin complex component | Vaak (30–79%) | In 2 aandoeningen |
| RFX6regulatory factor X6 | Vaak (30–79%) | In 1 aandoening |
| ROBO1roundabout guidance receptor 1 | Vaak (30–79%) | In 1 aandoening |
| SMOsmoothened, frizzled class receptor | Vaak (30–79%) | In 2 aandoeningen |
| TBC1D32TBC1 domain family member 32 | Vaak (30–79%) | In 1 aandoening |
| ZPR1ZPR1 zinc finger | Vaak (30–79%) | In 1 aandoening |
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Soms (5–29%) | In 1 aandoening |
| ARVCFARVCF delta catenin family member | Soms (5–29%) | In 1 aandoening |
| ASXL3ASXL transcriptional regulator 3 | Soms (5–29%) | In 1 aandoening |
| BCORBCL6 corepressor | Soms (5–29%) | In 1 aandoening |
| BRD4bromodomain containing 4 | Soms (5–29%) | In 1 aandoening |
| CAMK2Acalcium/calmodulin dependent protein kinase II alpha | Soms (5–29%) | In 1 aandoening |
| CCDC22CCC complex scaffolding subunit CCDC22 | Soms (5–29%) | In 2 aandoeningen |
| CHRM3cholinergic receptor muscarinic 3 | Soms (5–29%) | In 1 aandoening |
| CIROZciliated left-right organizer protein containing ZP-N domains | Soms (5–29%) | In 1 aandoening |
| COMTcatechol-O-methyltransferase | Soms (5–29%) | In 1 aandoening |
| DHCR2424-dehydrocholesterol reductase | Soms (5–29%) | In 1 aandoening |
| DPYSL5dihydropyrimidinase like 5 | Soms (5–29%) | In 1 aandoening |
Toon nog 112 genen
| Gen | Hoe vaak het voorkomt | Aandoeningen |
|---|---|---|
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Soms (5–29%) | In 1 aandoening |
| FBN2fibrillin 2 | Soms (5–29%) | In 1 aandoening |
| FBXO22F-box protein 22 | Soms (5–29%) | In 1 aandoening |
| FGFR2fibroblast growth factor receptor 2 | Soms (5–29%) | In 2 aandoeningen |
| FLI1Fli-1 proto-oncogene, ETS transcription factor | Soms (5–29%) | In 1 aandoening |
| FREM2FRAS1 related extracellular matrix 2 | Soms (5–29%) | In 1 aandoening |
| GP1BBglycoprotein Ib platelet subunit beta | Soms (5–29%) | In 1 aandoening |
| HDAC8histone deacetylase 8 | Soms (5–29%) | In 1 aandoening |
| HIRAhistone cell cycle regulator | Soms (5–29%) | In 1 aandoening |
| HMGA2high mobility group AT-hook 2 | Soms (5–29%) | In 1 aandoening |
| HNRNPUheterogeneous nuclear ribonucleoprotein U | Soms (5–29%) | In 1 aandoening |
| IPO8importin 8 | Soms (5–29%) | In 1 aandoening |
| ISL1ISL LIM homeobox 1 | Soms (5–29%) | In 1 aandoening |
| JMJD1Cjumonji domain containing 1C | Soms (5–29%) | In 1 aandoening |
| KAT6Alysine acetyltransferase 6A | Soms (5–29%) | In 2 aandoeningen |
| LEMD3LEM domain containing 3 | Soms (5–29%) | In 1 aandoening |
| LRP2LDL receptor related protein 2 | Soms (5–29%) | In 2 aandoeningen |
| MAU2MAU2 sister chromatid cohesion factor | Soms (5–29%) | In 1 aandoening |
| NEK1NIMA related kinase 1 | Soms (5–29%) | In 1 aandoening |
| NIPBLNIPBL cohesin loading factor | Soms (5–29%) | In 1 aandoening |
| NODALnodal growth differentiation factor | Soms (5–29%) | In 1 aandoening |
| NOTCH2notch receptor 2 | Soms (5–29%) | In 2 aandoeningen |
| PI4KAphosphatidylinositol 4-kinase alpha | Soms (5–29%) | In 1 aandoening |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Soms (5–29%) | In 1 aandoening |
| PORCNporcupine O-acyltransferase | Soms (5–29%) | In 2 aandoeningen |
| RARBretinoic acid receptor beta | Soms (5–29%) | In 1 aandoening |
| RREB1ras responsive element binding protein 1 | Soms (5–29%) | In 1 aandoening |
| SEC24CSEC24 homolog C, COPII component | Soms (5–29%) | In 1 aandoening |
| SMAD2SMAD family member 2 | Soms (5–29%) | In 1 aandoening |
| SMC1Astructural maintenance of chromosomes 1A | Soms (5–29%) | In 1 aandoening |
| SMC3structural maintenance of chromosomes 3 | Soms (5–29%) | In 1 aandoening |
| SPINT2serine peptidase inhibitor, Kunitz type 2 | Soms (5–29%) | In 1 aandoening |
| TBX1T-box transcription factor 1 | Soms (5–29%) | In 1 aandoening |
| TMEM216transmembrane protein 216 | Soms (5–29%) | In 1 aandoening |
| TMEM94transmembrane protein 94 | Soms (5–29%) | In 1 aandoening |
| TP63tumor protein p63 | Soms (5–29%) | In 1 aandoening |
| TTC7Atetratricopeptide repeat domain 7A | Soms (5–29%) | In 2 aandoeningen |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Soms (5–29%) | In 1 aandoening |
| VPS35LVPS35 endosomal protein sorting factor like | Soms (5–29%) | In 1 aandoening |
| WASHC5WASH complex subunit 5 | Soms (5–29%) | In 1 aandoening |
| ALG12ALG12 alpha-1,6-mannosyltransferase | Zelden (1–4%) | In 1 aandoening |
| BRWD1bromodomain and WD repeat domain containing 1 | Zelden (1–4%) | In 1 aandoening |
| CCDC39coiled-coil domain 39 molecular ruler complex subunit | Zelden (1–4%) | In 1 aandoening |
| CCDC40coiled-coil domain 40 molecular ruler complex subunit | Zelden (1–4%) | In 1 aandoening |
| CCNOcyclin O | Zelden (1–4%) | In 1 aandoening |
| CFAP221cilia and flagella associated protein 221 | Zelden (1–4%) | In 1 aandoening |
| CFAP298cilia and flagella associated protein 298 | Zelden (1–4%) | In 1 aandoening |
| CFAP300cilia and flagella associated protein 300 | Zelden (1–4%) | In 1 aandoening |
| CFAP74cilia and flagella associated protein 74 | Zelden (1–4%) | In 1 aandoening |
| CLXNcalaxin | Zelden (1–4%) | In 1 aandoening |
| CREBBPCREB binding lysine acetyltransferase | Zelden (1–4%) | In 2 aandoeningen |
| DAW1dynein assembly factor with WD repeats 1 | Zelden (1–4%) | In 1 aandoening |
| DNAAF1dynein axonemal assembly factor 1 | Zelden (1–4%) | In 1 aandoening |
| DNAAF11dynein axonemal assembly factor 11 | Zelden (1–4%) | In 1 aandoening |
| DNAAF19dynein axonemal assembly factor 19 | Zelden (1–4%) | In 1 aandoening |
| DNAAF2dynein axonemal assembly factor 2 | Zelden (1–4%) | In 1 aandoening |
| DNAAF3dynein axonemal assembly factor 3 | Zelden (1–4%) | In 1 aandoening |
| DNAAF4dynein axonemal assembly factor 4 | Zelden (1–4%) | In 1 aandoening |
| DNAAF5dynein axonemal assembly factor 5 | Zelden (1–4%) | In 1 aandoening |
| DNAAF6dynein axonemal assembly factor 6 | Zelden (1–4%) | In 1 aandoening |
| DNAH1dynein axonemal heavy chain 1 | Zelden (1–4%) | In 1 aandoening |
| DNAH11dynein axonemal heavy chain 11 | Zelden (1–4%) | In 1 aandoening |
| DNAH5dynein axonemal heavy chain 5 | Zelden (1–4%) | In 1 aandoening |
| DNAH7dynein axonemal heavy chain 7 | Zelden (1–4%) | In 1 aandoening |
| DNAH9dynein axonemal heavy chain 9 | Zelden (1–4%) | In 1 aandoening |
| DNAI1dynein axonemal intermediate chain 1 | Zelden (1–4%) | In 1 aandoening |
| DNAI2dynein axonemal intermediate chain 2 | Zelden (1–4%) | In 1 aandoening |
| DNAJB13DnaJ heat shock protein family (Hsp40) member B13 | Zelden (1–4%) | In 1 aandoening |
| DNAL1dynein axonemal light chain 1 | Zelden (1–4%) | In 1 aandoening |
| DRC1dynein regulatory complex subunit 1 | Zelden (1–4%) | In 1 aandoening |
| DRC2dynein regulatory complex subunit 2 | Zelden (1–4%) | In 1 aandoening |
| DRC4dynein regulatory complex subunit 4 | Zelden (1–4%) | In 1 aandoening |
| EP300EP300 lysine acetyltransferase | Zelden (1–4%) | In 2 aandoeningen |
| FOXJ1forkhead box J1 | Zelden (1–4%) | In 1 aandoening |
| GAS2L2growth arrest specific 2 like 2 | Zelden (1–4%) | In 1 aandoening |
| HYDINHYDIN axonemal central pair apparatus protein | Zelden (1–4%) | In 1 aandoening |
| LRRC56leucine rich repeat containing 56 | Zelden (1–4%) | In 1 aandoening |
| MCIDASmulticiliate differentiation and DNA synthesis associated cell cycle protein | Zelden (1–4%) | In 1 aandoening |
| NEK10NIMA related kinase 10 | Zelden (1–4%) | In 1 aandoening |
| NME5NME/NM23 family member 5 | Zelden (1–4%) | In 1 aandoening |
| NME8NME/NM23 family member 8 | Zelden (1–4%) | In 1 aandoening |
| ODAD1outer dynein arm docking complex subunit 1 | Zelden (1–4%) | In 1 aandoening |
| ODAD2outer dynein arm docking complex subunit 2 | Zelden (1–4%) | In 1 aandoening |
| ODAD3outer dynein arm docking complex subunit 3 | Zelden (1–4%) | In 1 aandoening |
| ODAD4outer dynein arm docking complex subunit 4 | Zelden (1–4%) | In 1 aandoening |
| OFD1OFD1 centriole and centriolar satellite protein | Zelden (1–4%) | In 1 aandoening |
| RPGRretinitis pigmentosa GTPase regulator | Zelden (1–4%) | In 1 aandoening |
| RSPH1radial spoke head component 1 | Zelden (1–4%) | In 1 aandoening |
| RSPH3radial spoke head 3 | Zelden (1–4%) | In 1 aandoening |
| RSPH4Aradial spoke head component 4A | Zelden (1–4%) | In 1 aandoening |
| RSPH9radial spoke head component 9 | Zelden (1–4%) | In 1 aandoening |
| SPAG1sperm associated antigen 1 | Zelden (1–4%) | In 1 aandoening |
| SPEF2sperm flagellar and cilia associated 2 | Zelden (1–4%) | In 1 aandoening |
| STK36serine/threonine kinase 36 | Zelden (1–4%) | In 1 aandoening |
| TTC12tetratricopeptide repeat domain 12 | Zelden (1–4%) | In 1 aandoening |
| ZMYND10zinc finger MYND-type containing 10 | Zelden (1–4%) | In 1 aandoening |
| AMER1APC membrane recruitment protein 1 | Niet vastgelegd | In 1 aandoening |
| ARID1BAT-rich interaction domain 1B | Niet vastgelegd | In 1 aandoening |
| ASXL1ASXL transcriptional regulator 1 | Niet vastgelegd | In 1 aandoening |
| CENPFcentromere protein F | Niet vastgelegd | In 1 aandoening |
| CHST14carbohydrate sulfotransferase 14 | Niet vastgelegd | In 1 aandoening |
| DHCR77-dehydrocholesterol reductase | Niet vastgelegd | In 1 aandoening |
| ERBB3erb-b2 receptor tyrosine kinase 3 | Niet vastgelegd | In 1 aandoening |
| EYA1EYA transcriptional coactivator and phosphatase 1 | Niet vastgelegd | In 1 aandoening |
| GPC3glypican 3 | Niet vastgelegd | In 1 aandoening |
| KDM6Alysine demethylase 6A | Niet vastgelegd | In 1 aandoening |
| KMT2Dlysine methyltransferase 2D | Niet vastgelegd | In 1 aandoening |
| MKS1MKS transition zone complex subunit 1 | Niet vastgelegd | In 1 aandoening |
| MMP21matrix metallopeptidase 21 | Niet vastgelegd | In 1 aandoening |
| SALL4spalt like transcription factor 4 | Niet vastgelegd | In 1 aandoening |
| SIX1SIX homeobox 1 | Niet vastgelegd | In 1 aandoening |
| UBE3Bubiquitin protein ligase E3B | 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 2026.10.19-9814e911.
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