Trait
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.
Summary
- Also called
- Exomphalos, Omphalocoele
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome Test83 genes linked to Omphalocele
Changes in these genes cause rare conditions in which Omphalocele is seen. Most people with this trait have none of those conditions, and a gene on this list says nothing about anyone's own genome.
| Gene | How often it is seen | Conditions |
|---|---|---|
| CHUKcomponent of inhibitor of nuclear factor kappa B kinase complex | Always | In 1 condition |
| GLI3GLI family zinc finger 3 | Always | In 1 condition |
| RIPK4receptor interacting serine/threonine kinase 4 | Always | In 1 condition |
| ALG9ALG9 alpha-1,2-mannosyltransferase | Often (30–79%) | In 2 conditions |
| CEP120centrosomal protein 120 | Often (30–79%) | In 1 condition |
| FLNAfilamin A | Often (30–79%) | In 5 conditions |
| FLNBfilamin B | Often (30–79%) | In 1 condition |
| FREM1FRAS1 related extracellular matrix 1 | Often (30–79%) | In 2 conditions |
| GPC3glypican 3 | Often (30–79%) | In 1 condition |
| GPC4glypican 4 | Often (30–79%) | In 1 condition |
| LRP2LDL receptor related protein 2 | Often (30–79%) | In 2 conditions |
| NXNnucleoredoxin | Often (30–79%) | In 1 condition |
| PLCB4phospholipase C beta 4 | Often (30–79%) | In 1 condition |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Often (30–79%) | In 1 condition |
| SPECC1Lsperm antigen with calponin homology and coiled-coil domains 1 like | Often (30–79%) | In 2 conditions |
| TSHBthyroid stimulating hormone subunit beta | Often (30–79%) | In 1 condition |
| TWIST2twist family bHLH transcription factor 2 | Often (30–79%) | In 2 conditions |
| ACTG2actin gamma 2, smooth muscle | Sometimes (5–29%) | In 1 condition |
| AHDC1AT-hook DNA binding motif containing 1 | Sometimes (5–29%) | In 1 condition |
| ARandrogen receptor | Sometimes (5–29%) | In 1 condition |
| BHLHA9basic helix-loop-helix family member a9 | Sometimes (5–29%) | In 1 condition |
| CD96CD96 molecule | Sometimes (5–29%) | In 2 conditions |
| COL11A1collagen type XI alpha 1 chain | Sometimes (5–29%) | In 2 conditions |
| COL11A2collagen type XI alpha 2 chain | Sometimes (5–29%) | In 1 condition |
| DACT1dishevelled binding antagonist of beta catenin 1 | Sometimes (5–29%) | In 1 condition |
| DLK1delta like non-canonical Notch ligand 1 | Sometimes (5–29%) | In 3 conditions |
| DVL1dishevelled segment polarity protein 1 | Sometimes (5–29%) | In 1 condition |
| DVL3dishevelled segment polarity protein 3 | Sometimes (5–29%) | In 1 condition |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Sometimes (5–29%) | In 1 condition |
| DYNC2I1dynein 2 intermediate chain 1 | Sometimes (5–29%) | In 1 condition |
| DYNC2I2dynein 2 intermediate chain 2 | Sometimes (5–29%) | In 1 condition |
| FGFR1fibroblast growth factor receptor 1 | Sometimes (5–29%) | In 2 conditions |
| FOXF1forkhead box F1 | Sometimes (5–29%) | In 1 condition |
| FRAS1Fraser extracellular matrix complex subunit 1 | Sometimes (5–29%) | In 1 condition |
| FREM2FRAS1 related extracellular matrix 2 | Sometimes (5–29%) | In 1 condition |
| GAD1glutamate decarboxylase 1 | Sometimes (5–29%) | In 1 condition |
| GRIP1glutamate receptor interacting protein 1 | Sometimes (5–29%) | In 1 condition |
| HIC1HIC ZBTB transcriptional repressor 1 | Sometimes (5–29%) | In 1 condition |
| HOXD13homeobox D13 | Sometimes (5–29%) | In 1 condition |
| IFT80intraflagellar transport 80 | Sometimes (5–29%) | In 1 condition |
Show 43 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| ISL1ISL LIM homeobox 1 | Sometimes (5–29%) | In 1 condition |
| LMOD1leiomodin 1 | Sometimes (5–29%) | In 1 condition |
| LONP1lon peptidase 1, mitochondrial | Sometimes (5–29%) | In 1 condition |
| MAMLD1mastermind like domain containing 1 | Sometimes (5–29%) | In 1 condition |
| MBTPS2membrane bound transcription factor peptidase, site 2 | Sometimes (5–29%) | In 2 conditions |
| MEG3maternally expressed 3 | Sometimes (5–29%) | In 3 conditions |
| MID1midline 1 | Sometimes (5–29%) | In 1 condition |
| MMP14matrix metallopeptidase 14 | Sometimes (5–29%) | In 1 condition |
| MMP2matrix metallopeptidase 2 | Sometimes (5–29%) | In 1 condition |
| MTHFRmethylenetetrahydrofolate reductase | Sometimes (5–29%) | In 1 condition |
| MYH11myosin heavy chain 11 | Sometimes (5–29%) | In 1 condition |
| MYLKmyosin light chain kinase | Sometimes (5–29%) | In 1 condition |
| NEK9NIMA related kinase 9 | Sometimes (5–29%) | In 1 condition |
| PAFAH1B1platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Sometimes (5–29%) | In 1 condition |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Sometimes (5–29%) | In 1 condition |
| PORCNporcupine O-acyltransferase | Sometimes (5–29%) | In 2 conditions |
| PPP1R12Aprotein phosphatase 1 regulatory subunit 12A | Sometimes (5–29%) | In 1 condition |
| PTCH1patched 1 | Sometimes (5–29%) | In 1 condition |
| RTL1retrotransposon Gag like 1 | Sometimes (5–29%) | In 3 conditions |
| TBC1D32TBC1 domain family member 32 | Sometimes (5–29%) | In 1 condition |
| TMEM216transmembrane protein 216 | Sometimes (5–29%) | In 1 condition |
| TMEM94transmembrane protein 94 | Sometimes (5–29%) | In 1 condition |
| TP63tumor protein p63 | Sometimes (5–29%) | In 1 condition |
| TTC7Atetratricopeptide repeat domain 7A | Sometimes (5–29%) | In 2 conditions |
| VANGL2VANGL planar cell polarity protein 2 | Sometimes (5–29%) | In 1 condition |
| WDR35WD repeat domain 35 | Sometimes (5–29%) | In 1 condition |
| YWHAEtyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Sometimes (5–29%) | In 1 condition |
| ZIC3Zic family zinc finger 3 | Sometimes (5–29%) | In 1 condition |
| AMER1APC membrane recruitment protein 1 | Rarely (1–4%) | In 1 condition |
| CHD7chromodomain helicase DNA binding protein 7 | Rarely (1–4%) | In 2 conditions |
| PI4KAphosphatidylinositol 4-kinase alpha | Rarely (1–4%) | In 1 condition |
| SEMA3Esemaphorin 3E | Rarely (1–4%) | In 1 condition |
| TRRAPtransformation/transcription domain associated protein | Rarely (1–4%) | In 1 condition |
| CDKN1Ccyclin dependent kinase inhibitor 1C | Not recorded | In 1 condition |
| HYLS1HYLS1 centriolar and ciliogenesis associated | Not recorded | In 1 condition |
| IFT81intraflagellar transport 81 | Not recorded | In 1 condition |
| IGF2insulin like growth factor 2 | Not recorded | In 1 condition |
| KCNQ1potassium voltage-gated channel subfamily Q member 1 | Not recorded | In 1 condition |
| KCNQ1OT1KCNQ1 opposite strand/antisense transcript 1 | Not recorded | In 1 condition |
| MKS1MKS transition zone complex subunit 1 | Not recorded | In 1 condition |
| NFIXnuclear factor I X | Not recorded | In 1 condition |
| RAB23RAB23, member RAS oncogene family | Not recorded | In 1 condition |
| THRAthyroid hormone receptor alpha | Not recorded | In 1 condition |
How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.
Broader traits
Where this comes from
- The Human Phenotype Ontology, release 2026-09-01: the trait, its names, its definition and the genes linked to it. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
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