Trait
Celiac disease
Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurrence of CD is seen as a feature of a number of other diseases.
Summary
- Also called
- Celiac sprue, Coeliac disease, Coeliac sprue
Reference genomeGRCh38hg38
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Get my Genome Test62 genes linked to Celiac disease
Changes in these genes cause rare conditions in which Celiac disease 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 |
|---|---|---|
| CDK4cyclin dependent kinase 4 | Always | In 1 condition |
| TBC1D7TBC1 domain family member 7 | Always | In 1 condition |
| TRAF3TNF receptor associated factor 3 | Always | In 1 condition |
| ARPC5actin related protein 2/3 complex subunit 5 | Often (30–79%) | In 1 condition |
| SGSM3small G protein signaling modulator 3 | Often (30–79%) | In 1 condition |
| STAT3signal transducer and activator of transcription 3 | Often (30–79%) | In 1 condition |
| AIREautoimmune regulator | Sometimes (5–29%) | In 1 condition |
| BICRABRD4 interacting chromatin remodeling complex associated protein | Sometimes (5–29%) | In 1 condition |
| ELNelastin | Sometimes (5–29%) | In 1 condition |
| GPR35G protein-coupled receptor 35 | Sometimes (5–29%) | In 1 condition |
| IL12Ainterleukin 12A | Sometimes (5–29%) | In 1 condition |
| IL12RB1interleukin 12 receptor subunit beta 1 | Sometimes (5–29%) | In 1 condition |
| IPO8importin 8 | Sometimes (5–29%) | In 1 condition |
| IRF5interferon regulatory factor 5 | Sometimes (5–29%) | In 1 condition |
| MED12mediator complex subunit 12 | Sometimes (5–29%) | In 1 condition |
| MLXIPLMLX interacting protein like | Sometimes (5–29%) | In 1 condition |
| MMEL1membrane metalloendopeptidase like 1 | Sometimes (5–29%) | In 1 condition |
| MST1macrophage stimulating 1 | Sometimes (5–29%) | In 1 condition |
| ODC1ornithine decarboxylase 1 | Sometimes (5–29%) | In 1 condition |
| POU2AF1POU class 2 homeobox associating factor 1 | Sometimes (5–29%) | In 1 condition |
| SATB2SATB homeobox 2 | Sometimes (5–29%) | In 1 condition |
| SEMA4Dsemaphorin 4D | Sometimes (5–29%) | In 1 condition |
| SOCS1suppressor of cytokine signaling 1 | Sometimes (5–29%) | In 1 condition |
| SPIBSpi-B transcription factor | Sometimes (5–29%) | In 1 condition |
| SRCAPSnf2 related CREBBP activator protein | Sometimes (5–29%) | In 2 conditions |
| STAT5Bsignal transducer and activator of transcription 5B | Sometimes (5–29%) | In 2 conditions |
| TBK1TANK binding kinase 1 | Sometimes (5–29%) | In 1 condition |
| TCF4transcription factor 4 | Sometimes (5–29%) | In 1 condition |
| TNFSF15TNF superfamily member 15 | Sometimes (5–29%) | In 1 condition |
| TNPO3transportin 3 | Sometimes (5–29%) | In 1 condition |
| WACWW domain containing adaptor with coiled-coil | Sometimes (5–29%) | In 1 condition |
| ARL6ARF like GTPase 6 | Rarely (1–4%) | In 1 condition |
| BBIP1BBSome interacting protein 1 | Rarely (1–4%) | In 1 condition |
| BBS1Bardet-Biedl syndrome 1 | Rarely (1–4%) | In 1 condition |
| BBS10Bardet-Biedl syndrome 10 | Rarely (1–4%) | In 1 condition |
| BBS12Bardet-Biedl syndrome 12 | Rarely (1–4%) | In 1 condition |
| BBS2Bardet-Biedl syndrome 2 | Rarely (1–4%) | In 1 condition |
| BBS4Bardet-Biedl syndrome 4 | Rarely (1–4%) | In 1 condition |
| BBS5Bardet-Biedl syndrome 5 | Rarely (1–4%) | In 1 condition |
| BBS7Bardet-Biedl syndrome 7 | Rarely (1–4%) | In 1 condition |
Show 22 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| BBS9Bardet-Biedl syndrome 9 | Rarely (1–4%) | In 1 condition |
| CEP19centrosomal protein 19 | Rarely (1–4%) | In 1 condition |
| CEP290centrosomal protein 290 | Rarely (1–4%) | In 1 condition |
| CFAP418cilia and flagella associated protein 418 | Rarely (1–4%) | In 1 condition |
| IFT172intraflagellar transport 172 | Rarely (1–4%) | In 1 condition |
| IFT27intraflagellar transport 27 | Rarely (1–4%) | In 1 condition |
| IFT74intraflagellar transport 74 | Rarely (1–4%) | In 1 condition |
| IGHG2immunoglobulin heavy constant gamma 2 (G2m marker) | Rarely (1–4%) | In 1 condition |
| IGKCimmunoglobulin kappa constant | Rarely (1–4%) | In 1 condition |
| LZTFL1leucine zipper transcription factor like 1 | Rarely (1–4%) | In 1 condition |
| MKKSMKKS centrosomal shuttling protein | Rarely (1–4%) | In 1 condition |
| MKS1MKS transition zone complex subunit 1 | Rarely (1–4%) | In 1 condition |
| NPHP1nephrocystin 1 | Rarely (1–4%) | In 1 condition |
| SCAPERS-phase cyclin A associated protein in the ER | Rarely (1–4%) | In 1 condition |
| SCLT1sodium channel and clathrin linker 1 | Rarely (1–4%) | In 1 condition |
| SDCCAG8SHH signaling and ciliogenesis regulator SDCCAG8 | Rarely (1–4%) | In 1 condition |
| TRIM32tripartite motif containing 32 | Rarely (1–4%) | In 1 condition |
| TTC8tetratricopeptide repeat domain 8 | Rarely (1–4%) | In 1 condition |
| WDPCPWD repeat containing planar cell polarity effector | Rarely (1–4%) | In 1 condition |
| HLA-DQA1major histocompatibility complex, class II, DQ alpha 1 | Not recorded | In 1 condition |
| HLA-DQB1major histocompatibility complex, class II, DQ beta 1 | Not recorded | In 1 condition |
| IVNS1ABPinfluenza virus NS1A binding protein | 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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