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Trait
Absent anus
Clinical name: Anal atresia
Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.
Summary
- Body system
- Abnormality of the digestive system
Absent anusHP:0002023
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Read the genes linked to Absent anus, and the rest of your genome, with one test.
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Get my Genome Test139 genes linked to Absent anus
Changes in these genes cause rare conditions in which Absent anus 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 |
|---|---|---|
| AMOTL1angiomotin like 1 | Always | In 1 condition |
| CCNQcyclin Q | Always | In 2 conditions |
| GPC3glypican 3 | Always | In 1 condition |
| INTUinturned planar cell polarity protein | Always | In 1 condition |
| MED16mediator complex subunit 16 | Always | In 1 condition |
| PAN2poly(A) specific ribonuclease subunit PAN2 | Always | In 1 condition |
| RAD51RAD51 recombinase | Always | In 2 conditions |
| RAD51CRAD51 paralog C | Always | In 2 conditions |
| RIPK4receptor interacting serine/threonine kinase 4 | Always | In 1 condition |
| RNU12RNA, U12 small nuclear | Always | In 2 conditions |
| UBR1ubiquitin protein ligase E3 component n-recognin 1 | Always | In 2 conditions |
| ZIC3Zic family zinc finger 3 | Always | In 2 conditions |
| DACT1dishevelled binding antagonist of beta catenin 1 | Very often (80–99%) | In 3 conditions |
| FANCBFA complementation group B | Very often (80–99%) | In 2 conditions |
| HOXD13homeobox D13 | Very often (80–99%) | In 1 condition |
| MED12mediator complex subunit 12 | Very often (80–99%) | In 3 conditions |
| NBNnibrin | Very often (80–99%) | In 2 conditions |
| SALL1spalt like transcription factor 1 | Very often (80–99%) | In 2 conditions |
| CAPN15calpain 15 | Often (30–79%) | In 1 condition |
| FAAP100FA core complex associated protein 100 | Often (30–79%) | In 2 conditions |
| FANCLFA complementation group L | Often (30–79%) | In 2 conditions |
| FRAS1Fraser extracellular matrix complex subunit 1 | Often (30–79%) | In 1 condition |
| FREM2FRAS1 related extracellular matrix 2 | Often (30–79%) | In 2 conditions |
| FUZfuzzy planar cell polarity protein | Often (30–79%) | In 1 condition |
| GLI3GLI family zinc finger 3 | Often (30–79%) | In 2 conditions |
| GRIP1glutamate receptor interacting protein 1 | Often (30–79%) | In 1 condition |
| HSPA9heat shock protein family A (Hsp70) member 9 | Often (30–79%) | In 1 condition |
| LRRC8Cleucine rich repeat containing 8 VRAC subunit C | Often (30–79%) | In 1 condition |
| MNX1motor neuron and pancreas homeobox 1 | Often (30–79%) | In 2 conditions |
| NIPBLNIPBL cohesin loading factor | Often (30–79%) | In 1 condition |
| PIGOphosphatidylinositol glycan anchor biosynthesis class O | Often (30–79%) | In 1 condition |
| RAB34RAB34, member RAS oncogene family | Often (30–79%) | In 1 condition |
| RSPO2R-spondin 2 | Often (30–79%) | In 1 condition |
| TBX4T-box transcription factor 4 | Often (30–79%) | In 1 condition |
| TBXTT-box transcription factor T | Often (30–79%) | In 1 condition |
| TWIST1twist family bHLH transcription factor 1 | Often (30–79%) | In 1 condition |
| TWIST2twist family bHLH transcription factor 2 | Often (30–79%) | In 2 conditions |
| USP9Xubiquitin specific peptidase 9 X-linked | Often (30–79%) | In 2 conditions |
| VANGL1VANGL planar cell polarity protein 1 | Often (30–79%) | In 1 condition |
| WNT3Wnt family member 3 | Often (30–79%) | In 2 conditions |
Show 99 more genes
| Gene | How often it is seen | Conditions |
|---|---|---|
| ABL1ABL proto-oncogene 1, non-receptor tyrosine kinase | Sometimes (5–29%) | In 1 condition |
| ARandrogen receptor | Sometimes (5–29%) | In 1 condition |
| ARVCFARVCF delta catenin family member | Sometimes (5–29%) | In 1 condition |
| B3GLCTbeta 3-glucosyltransferase | Sometimes (5–29%) | In 1 condition |
| BRCA1BRCA1 DNA repair associated | Sometimes (5–29%) | In 1 condition |
| BRCA2BRCA2 DNA repair associated | Sometimes (5–29%) | In 2 conditions |
| BRIP1BRCA1 interacting DNA helicase 1 | Sometimes (5–29%) | In 1 condition |
| CACHD1cache domain containing 1 | Sometimes (5–29%) | In 1 condition |
| CCDC22CCC complex scaffolding subunit CCDC22 | Sometimes (5–29%) | In 1 condition |
| CDC45cell division cycle 45 | Sometimes (5–29%) | In 1 condition |
| CDH1cadherin 1 | Sometimes (5–29%) | In 2 conditions |
| CHRM3cholinergic receptor muscarinic 3 | Sometimes (5–29%) | In 2 conditions |
| COMTcatechol-O-methyltransferase | Sometimes (5–29%) | In 1 condition |
| CTNND1catenin delta 1 | Sometimes (5–29%) | In 1 condition |
| DPYSL5dihydropyrimidinase like 5 | Sometimes (5–29%) | In 1 condition |
| DYNC2H1dynein cytoplasmic 2 heavy chain 1 | Sometimes (5–29%) | In 2 conditions |
| DYNC2I1dynein 2 intermediate chain 1 | Sometimes (5–29%) | In 1 condition |
| DYNC2I2dynein 2 intermediate chain 2 | Sometimes (5–29%) | In 1 condition |
| EMC1ER membrane protein complex subunit 1 | Sometimes (5–29%) | In 2 conditions |
| ERCC4ERCC excision repair 4, endonuclease catalytic subunit | Sometimes (5–29%) | In 1 condition |
| EXTL3exostosin like glycosyltransferase 3 | Sometimes (5–29%) | In 1 condition |
| FANCAFA complementation group A | Sometimes (5–29%) | In 1 condition |
| FANCCFA complementation group C | Sometimes (5–29%) | In 1 condition |
| FANCD2FA complementation group D2 | Sometimes (5–29%) | In 1 condition |
| FANCEFA complementation group E | Sometimes (5–29%) | In 1 condition |
| FANCFFA complementation group F | Sometimes (5–29%) | In 1 condition |
| FANCGFA complementation group G | Sometimes (5–29%) | In 1 condition |
| FANCIFA complementation group I | Sometimes (5–29%) | In 1 condition |
| FANCMFA complementation group M | Sometimes (5–29%) | In 1 condition |
| FGFR2fibroblast growth factor receptor 2 | Sometimes (5–29%) | In 2 conditions |
| FOXF1forkhead box F1 | Sometimes (5–29%) | In 2 conditions |
| GDF3growth differentiation factor 3 | Sometimes (5–29%) | In 1 condition |
| GDF6growth differentiation factor 6 | Sometimes (5–29%) | In 1 condition |
| GP1BBglycoprotein Ib platelet subunit beta | Sometimes (5–29%) | In 1 condition |
| HIRAhistone cell cycle regulator | Sometimes (5–29%) | In 1 condition |
| HPS6HPS6 biogenesis of lysosomal organelles complex 2 subunit 3 | Sometimes (5–29%) | In 1 condition |
| IFT80intraflagellar transport 80 | Sometimes (5–29%) | In 1 condition |
| JMJD1Cjumonji domain containing 1C | Sometimes (5–29%) | In 1 condition |
| KAT6Blysine acetyltransferase 6B | Sometimes (5–29%) | In 1 condition |
| KDM6Alysine demethylase 6A | Sometimes (5–29%) | In 1 condition |
| KMT2Dlysine methyltransferase 2D | Sometimes (5–29%) | In 1 condition |
| LONP1lon peptidase 1, mitochondrial | Sometimes (5–29%) | In 1 condition |
| MAD2L2mitotic arrest deficient 2 like 2 | Sometimes (5–29%) | In 1 condition |
| MAMLD1mastermind like domain containing 1 | Sometimes (5–29%) | In 1 condition |
| MEOX1mesenchyme homeobox 1 | Sometimes (5–29%) | In 1 condition |
| MID1midline 1 | Sometimes (5–29%) | In 2 conditions |
| MKKSMKKS centrosomal shuttling protein | Sometimes (5–29%) | In 2 conditions |
| PALB2partner and localizer of BRCA2 | Sometimes (5–29%) | In 2 conditions |
| PIGNphosphatidylinositol glycan anchor biosynthesis class N | Sometimes (5–29%) | In 3 conditions |
| PPP2R3Cprotein phosphatase 2 regulatory subunit B''gamma | Sometimes (5–29%) | In 1 condition |
| PQBP1polyglutamine binding protein 1 | Sometimes (5–29%) | In 2 conditions |
| RECQL4RecQ like helicase 4 | Sometimes (5–29%) | In 2 conditions |
| RFWD3ring finger and WD repeat domain 3 | Sometimes (5–29%) | In 1 condition |
| RREB1ras responsive element binding protein 1 | Sometimes (5–29%) | In 1 condition |
| SALL4spalt like transcription factor 4 | Sometimes (5–29%) | In 3 conditions |
| SCAF4SR-related CTD associated factor 4 | Sometimes (5–29%) | In 1 condition |
| SEC24CSEC24 homolog C, COPII component | Sometimes (5–29%) | In 1 condition |
| SIN3ASIN3 transcription regulator family member A | Sometimes (5–29%) | In 1 condition |
| SLX4SLX4 structure-specific endonuclease subunit | Sometimes (5–29%) | In 1 condition |
| SPINT2serine peptidase inhibitor, Kunitz type 2 | Sometimes (5–29%) | In 1 condition |
| TBC1D23TBC1 domain family member 23 | Sometimes (5–29%) | In 1 condition |
| TBX1T-box transcription factor 1 | Sometimes (5–29%) | In 1 condition |
| TBX3T-box transcription factor 3 | Sometimes (5–29%) | In 2 conditions |
| TCTN3tectonic family member 3 | Sometimes (5–29%) | In 1 condition |
| THOC6THO complex subunit 6 | Sometimes (5–29%) | In 1 condition |
| TNRC6Btrinucleotide repeat containing adaptor 6B | Sometimes (5–29%) | In 1 condition |
| UBE2Tubiquitin conjugating enzyme E2 T | Sometimes (5–29%) | In 1 condition |
| UFD1ubiquitin recognition factor in ER associated degradation 1 | Sometimes (5–29%) | In 1 condition |
| VPS35LVPS35 endosomal protein sorting factor like | Sometimes (5–29%) | In 1 condition |
| WASHC5WASH complex subunit 5 | Sometimes (5–29%) | In 2 conditions |
| WBP4WW domain binding protein 4 | Sometimes (5–29%) | In 1 condition |
| WDR35WD repeat domain 35 | Sometimes (5–29%) | In 1 condition |
| WNT7AWnt family member 7A | Sometimes (5–29%) | In 1 condition |
| XRCC2X-ray repair cross complementing 2 | Sometimes (5–29%) | In 1 condition |
| ALDH3A2aldehyde dehydrogenase 3 family member A2 | Rarely (1–4%) | In 1 condition |
| AMER1APC membrane recruitment protein 1 | Rarely (1–4%) | In 1 condition |
| EBF3EBF transcription factor 3 | Rarely (1–4%) | In 1 condition |
| EHMT1euchromatic histone lysine methyltransferase 1 | Rarely (1–4%) | In 1 condition |
| EPCAMepithelial cell adhesion molecule | Rarely (1–4%) | In 1 condition |
| KMT2Clysine methyltransferase 2C | Rarely (1–4%) | In 1 condition |
| MYCNMYCN proto-oncogene, bHLH transcription factor | Rarely (1–4%) | In 1 condition |
| BCORBCL6 corepressor | Not recorded | In 1 condition |
| CEP120centrosomal protein 120 | Not recorded | In 1 condition |
| CHD7chromodomain helicase DNA binding protein 7 | Not recorded | In 1 condition |
| COX7Bcytochrome c oxidase subunit 7B | Not recorded | In 1 condition |
| DCHS1dachsous cadherin-related 1 | Not recorded | In 1 condition |
| DPYSdihydropyrimidinase | Not recorded | In 1 condition |
| FKRPfukutin related protein | Not recorded | In 1 condition |
| FKTNfukutin | Not recorded | In 1 condition |
| HCCSholocytochrome c synthase | Not recorded | In 1 condition |
| KIF7kinesin family member 7 | Not recorded | In 1 condition |
| LARGE1LARGE xylosyl- and glucuronyltransferase 1 | Not recorded | In 1 condition |
| MKS1MKS transition zone complex subunit 1 | Not recorded | In 1 condition |
| NAA10N-alpha-acetyltransferase 10, NatA catalytic subunit | Not recorded | In 1 condition |
| NDUFB11NADH:ubiquinone oxidoreductase subunit B11 | Not recorded | In 1 condition |
| PITX2paired like homeodomain 2 | Not recorded | In 1 condition |
| POMT1protein O-mannosyltransferase 1 | Not recorded | In 1 condition |
| POMT2protein O-mannosyltransferase 2 | Not recorded | In 1 condition |
| UPB1beta-ureidopropionase 1 | 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.
Who We HelpOur ScienceProductsOutcomes
Log InAskGet Startedfrom $449
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks