Požymis
Omphalocele
A midline anterior incomplete closure of the abdominal wall in which there is herniation of the abdominal viscera into the base of the abdominal cord.
Santrauka
- Taip pat vadinama
- Exomphalos, Omphalocoele
Atskaitos genomasGRCh38hg38
Pozicijos genų ir variantų puslapiuose rodomos pagal šį pasirinkimą šioje naršyklėje.
Read the genes linked to Omphalocele, and the rest of your genome, with one test.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites
Įsigyti savo Genome Test83 genų susiję su Omphalocele
Šių genų pakitimai sukelia retas ligas, kuriose pasireiškia Omphalocele. 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 |
| GLI3GLI family zinc finger 3 | Visada | 1 ligoje |
| RIPK4receptor interacting serine/threonine kinase 4 | Visada | 1 ligoje |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Dažnai (30–79%) | 2 ligose |
| CEP120centrosomal protein 120 | Dažnai (30–79%) | 1 ligoje |
| FLNAfilamin A | Dažnai (30–79%) | 5 ligose |
| FLNBfilamin B | Dažnai (30–79%) | 1 ligoje |
| FREM1FRAS1 related extracellular matrix 1 | Dažnai (30–79%) | 2 ligose |
| GPC3glypican 3 | Dažnai (30–79%) | 1 ligoje |
| GPC4glypican 4 | Dažnai (30–79%) | 1 ligoje |
| LRP2LDL receptor related protein 2 | Dažnai (30–79%) | 2 ligose |
| NXNnucleoredoxin | Dažnai (30–79%) | 1 ligoje |
| PLCB4phospholipase C beta 4 | Dažnai (30–79%) | 1 ligoje |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Dažnai (30–79%) | 1 ligoje |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Dažnai (30–79%) | 2 ligose |
| TSHBthyroid stimulating hormone subunit beta | Dažnai (30–79%) | 1 ligoje |
| TWIST2twist family bHLH transcription factor 2 | Dažnai (30–79%) | 2 ligose |
| ACTG2actin gamma 2, smooth muscle | Kartais (5–29%) | 1 ligoje |
| AHDC1AT-hook DNA binding motif containing 1 | Kartais (5–29%) | 1 ligoje |
| ARandrogen receptor | Kartais (5–29%) | 1 ligoje |
| BHLHA9basic helix-loop-helix family member a9 | Kartais (5–29%) | 1 ligoje |
| CD96CD96 molecule | Kartais (5–29%) | 2 ligose |
| COL11A1collagen type XI alpha 1 chain | Kartais (5–29%) | 2 ligose |
| COL11A2collagen type XI alpha 2 chain | Kartais (5–29%) | 1 ligoje |
| DACT1dishevelled binding antagonist of beta catenin 1 | Kartais (5–29%) | 1 ligoje |
| DLK1delta like non-canonical Notch ligand 1 | Kartais (5–29%) | 3 ligose |
| DVL1dishevelled segment polarity protein 1 | Kartais (5–29%) | 1 ligoje |
| DVL3dishevelled segment polarity protein 3 | Kartais (5–29%) | 1 ligoje |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Kartais (5–29%) | 1 ligoje |
| DYNC2I1dynein 2 intermediate chain 1 | Kartais (5–29%) | 1 ligoje |
| DYNC2I2dynein 2 intermediate chain 2 | Kartais (5–29%) | 1 ligoje |
| FGFR1fibroblast growth factor receptor 1 | Kartais (5–29%) | 2 ligose |
| FOXF1forkhead box F1 | Kartais (5–29%) | 1 ligoje |
| FRAS1Fraser extracellular matrix complex subunit 1 | Kartais (5–29%) | 1 ligoje |
| FREM2FRAS1 related extracellular matrix 2 | Kartais (5–29%) | 1 ligoje |
| GAD1glutamate decarboxylase 1 | Kartais (5–29%) | 1 ligoje |
| GRIP1glutamate receptor interacting protein 1 | Kartais (5–29%) | 1 ligoje |
| HIC1HIC ZBTB transcriptional repressor 1 | Kartais (5–29%) | 1 ligoje |
| HOXD13homeobox D13 | Kartais (5–29%) | 1 ligoje |
| IFT80intraflagellar transport 80 | Kartais (5–29%) | 1 ligoje |
Rodyti dar 43 genų
| Genas | Kaip dažnai pasireiškia | Ligos |
|---|---|---|
| ISL1ISL LIM homeobox 1 | Kartais (5–29%) | 1 ligoje |
| LMOD1leiomodin 1 | Kartais (5–29%) | 1 ligoje |
| LONP1lon peptidase 1, mitochondrial | Kartais (5–29%) | 1 ligoje |
| MAMLD1mastermind like domain containing 1 | Kartais (5–29%) | 1 ligoje |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Kartais (5–29%) | 2 ligose |
| MEG3maternally expressed 3 | Kartais (5–29%) | 3 ligose |
| MID1midline 1 | Kartais (5–29%) | 1 ligoje |
| MMP14matrix metallopeptidase 14 | Kartais (5–29%) | 1 ligoje |
| MMP2matrix metallopeptidase 2 | Kartais (5–29%) | 1 ligoje |
| MTHFRmethylenetetrahydrofolate reductase | Kartais (5–29%) | 1 ligoje |
| MYH11myosin heavy chain 11 | Kartais (5–29%) | 1 ligoje |
| MYLKmyosin light chain kinase | Kartais (5–29%) | 1 ligoje |
| NEK9NIMA related kinase 9 | Kartais (5–29%) | 1 ligoje |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Kartais (5–29%) | 1 ligoje |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Kartais (5–29%) | 1 ligoje |
| PORCNporcupine O-acyltransferase | Kartais (5–29%) | 2 ligose |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Kartais (5–29%) | 1 ligoje |
| PTCH1patched 1 | Kartais (5–29%) | 1 ligoje |
| RTL1retrotransposon Gag like 1 | Kartais (5–29%) | 3 ligose |
| TBC1D32TBC1 domain family member 32 | Kartais (5–29%) | 1 ligoje |
| TMEM216transmembrane protein 216 | Kartais (5–29%) | 1 ligoje |
| TMEM94transmembrane protein 94 | Kartais (5–29%) | 1 ligoje |
| TP63tumor protein p63 | Kartais (5–29%) | 1 ligoje |
| TTC7Atetratricopeptide repeat domain 7A | Kartais (5–29%) | 2 ligose |
| VANGL2VANGL planar cell polarity protein 2 | Kartais (5–29%) | 1 ligoje |
| WDR35WD repeat domain 35 | Kartais (5–29%) | 1 ligoje |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Kartais (5–29%) | 1 ligoje |
| ZIC3Zic family zinc finger 3 | Kartais (5–29%) | 1 ligoje |
| AMER1APC membrane recruitment protein 1 | Retai (1–4 %) | 1 ligoje |
| CHD7chromodomain helicase DNA binding protein 7 | Retai (1–4 %) | 2 ligose |
| PI4KAphosphatidylinositol 4-kinase alpha | Retai (1–4 %) | 1 ligoje |
| SEMA3Esemaphorin 3E | Retai (1–4 %) | 1 ligoje |
| TRRAPtransformation/transcription domain associated protein | Retai (1–4 %) | 1 ligoje |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Neužfiksuota | 1 ligoje |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Neužfiksuota | 1 ligoje |
| IFT81intraflagellar transport 81 | Neužfiksuota | 1 ligoje |
| IGF2insulin like growth factor 2 | Neužfiksuota | 1 ligoje |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Neužfiksuota | 1 ligoje |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Neužfiksuota | 1 ligoje |
| MKS1MKS transition zone complex subunit 1 | Neužfiksuota | 1 ligoje |
| NFIXnuclear factor I X | Neužfiksuota | 1 ligoje |
| RAB23RAB23, member RAS oncogene family | Neužfiksuota | 1 ligoje |
| THRAthyroid hormone receptor 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.
Platesni požymiai
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.
Vienas testas. Atsakymai visam gyvenimui.
Nuo 449 $Nemokamas pristatymas · Rezultatai per 6–8 savaites