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Trait
Abnormality of the intestine
Clinical name: Abnormal intestine morphology
An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine.
Summary
- Also called
- Enteropathy
- Body system
- Abnormality of the digestive system
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This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/traits/abnormal-intestine-morphology.json"
page <- fromJSON(url)
page$trait$nameAbnormality of the intestineHP:0002242
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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.
- Waardenburg SyndromeReads 4 of these genesEDN3EDNRBMITFSOX10About this report →
- STAT1 and STAT3 Gain-of-Function DiseaseReads 2 of these genesSTAT1STAT3About this report →
- CHAPLE Disease (CD55 Deficiency)Reads 1 of these genesCD55About this report →
- Dyssegmental Dysplasia, Silverman-Handmaker TypeReads 1 of these genesHSPG2About this report →
Show 33 more reports
- ITCH DeficiencyReads 1 of these genesITCHAbout this report →
- Radio-Tartaglia SyndromeReads 1 of these genesSPENAbout this report →
- Schwartz-Jampel Syndrome Type 1Reads 1 of these genesHSPG2About this report →
- Congenital Anomalies of the Kidney and Urinary TractReads 3 of these genesGFRA1GREB1LITGA8About this report →
- Hyper-IgE SyndromeReads 2 of these genesSPINK5STAT3About this report →
- Cerebral Arteriopathy with Subcortical Infarcts and LeukoencephalopathyReads 1 of these genesNOTCH3About this report →
- Hereditary FibromatosesReads 1 of these genesPDGFRBAbout this report →
- Autoimmune DiseaseReads 3 of these genesSTAT1FOXP3STAT3About this report →
- Disorder of Copper MetabolismReads 1 of these genesAP1S1About this report →
- Hirschsprung Disease & Related Enteric NeurocristopathiesReads 1 of these genesRETAbout this report →
- Immuno-Osseous DysplasiasReads 1 of these genesSMARCAL1About this report →
- Complex Neurodevelopmental Disorder (TRRAP, MYH10, RERE, SOX11)Reads 1 of these genesREREAbout this report →
- MelanomaReads 1 of these genesMITFAbout this report →
- Chronic Mucocutaneous CandidiasisReads 1 of these genesSTAT1About this report →
- Other Inborn Errors of ImmunityReads 6 of these genesITPR3SPINK5STAT1STAT3CD3GSMARCAL1About this report →
- Basal Ganglia CalcificationReads 1 of these genesPDGFRBAbout this report →
- IPEX Syndrome and Other TregopathiesReads 1 of these genesFOXP3About this report →
- Malignant Endocrine NeoplasmReads 1 of these genesRETAbout this report →
- Familial Intrahepatic CholestasisReads 1 of these genesMYO5BAbout this report →
- Hereditary Pheochromocytoma and ParagangliomaReads 1 of these genesRETAbout this report →
- Marfan Like SyndromesReads 1 of these genesSKIAbout this report →
- Mendelian Susceptibility to Mycobacterial Disease (MSMD)Reads 1 of these genesSTAT1About this report →
- Urinary and Renal System TumourReads 1 of these genesRETAbout this report →
- Congenital Diarrhoeas & EnteropathiesReads 1 of these genesMYO5BAbout this report →
- Neonatal Diabetes MellitusReads 1 of these genesMNX1About this report →
- Syndromic CraniosynostosisReads 1 of these genesSKIAbout this report →
- Diabetes MellitusReads 1 of these genesMNX1About this report →
- Thyroid CancerReads 1 of these genesRETAbout this report →
- Hereditary Palmoplantar Keratodermas and Pachyonychia CongenitaReads 1 of these genesAP1B1About this report →
- Dilated CardiomyopathyReads 1 of these genesPRDM16About this report →
- Charcot-Marie-Tooth DiseaseReads 1 of these genesITPR3About this report →
- Hearing Loss and DeafnessReads 1 of these genesGREB1LAbout this report →
- Rare Hereditary Peripheral NeuropathiesReads 1 of these genesITPR3About this report →
Read the genes linked to Abnormality of the intestine, and the rest of your genome, with one test.
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Get my Genome Test38 genes linked to Abnormality of the intestine
Changes in these genes cause rare conditions in which Abnormality of the intestine 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 |
|---|---|---|
| ITPR3inositol 1,4,5-trisphosphate receptor type 3 | Always | In 1 condition |
| SPINK5serine peptidase inhibitor Kazal type 5 | Always | In 1 condition |
| AP1B1adaptor related protein complex 1 subunit beta 1 | Very often (80–99%) | In 1 condition |
| AP1S1adaptor related protein complex 1 subunit sigma 1 | Very often (80–99%) | In 1 condition |
| EDN3endothelin 3 | Very often (80–99%) | In 1 condition |
| EDNRBendothelin receptor type B | Very often (80–99%) | In 1 condition |
| MITFmelanocyte inducing transcription factor | Very often (80–99%) | In 1 condition |
| SOX10SRY-box transcription factor 10 | Very often (80–99%) | In 1 condition |
| STAT1signal transducer and activator of transcription 1 | Very often (80–99%) | In 1 condition |
| FGF20fibroblast growth factor 20 | Often (30–79%) | In 1 condition |
| FOXP3forkhead box P3 | Often (30–79%) | In 1 condition |
| GFRA1GDNF family receptor alpha 1 | Often (30–79%) | In 1 condition |
| GREB1LGREB1 like retinoic acid receptor coactivator | Often (30–79%) | In 1 condition |
| ITGA8integrin subunit alpha 8 | Often (30–79%) | In 1 condition |
| NOTCH3notch receptor 3 | Often (30–79%) | In 1 condition |
| PDGFRBplatelet derived growth factor receptor beta | Often (30–79%) | In 1 condition |
| RETret proto-oncogene | Often (30–79%) | In 1 condition |
| STAT3signal transducer and activator of transcription 3 | Often (30–79%) | In 1 condition |
| WNT9BWnt family member 9B | Often (30–79%) | In 1 condition |
| CASZ1castor zinc finger 1 | Sometimes (5–29%) | In 1 condition |
| CD3GCD3 gamma subunit of T-cell receptor complex | Sometimes (5–29%) | In 1 condition |
| GABRDgamma-aminobutyric acid type A receptor subunit delta | Sometimes (5–29%) | In 1 condition |
| HSPG2heparan sulfate proteoglycan 2 | Sometimes (5–29%) | In 1 condition |
| ITCHitchy E3 ubiquitin protein ligase | Sometimes (5–29%) | In 1 condition |
| KCNAB2potassium voltage-gated channel subfamily A regulatory beta subunit 2 | Sometimes (5–29%) | In 1 condition |
| LUZP1leucine zipper protein 1 | Sometimes (5–29%) | In 1 condition |
| MMP23Bmatrix metallopeptidase 23B | Sometimes (5–29%) | In 1 condition |
| MNX1motor neuron and pancreas homeobox 1 | Sometimes (5–29%) | In 1 condition |
| PDPNpodoplanin | Sometimes (5–29%) | In 1 condition |
| PRDM16PR/SET domain 16 | Sometimes (5–29%) | In 1 condition |
| PRKCZprotein kinase C zeta | Sometimes (5–29%) | In 1 condition |
| REREarginine-glutamic acid dipeptide repeats | Sometimes (5–29%) | In 1 condition |
| SKISKI proto-oncogene | Sometimes (5–29%) | In 1 condition |
| SPENspen family transcriptional repressor | Sometimes (5–29%) | In 1 condition |
| UBE4Bubiquitination factor E4B | Sometimes (5–29%) | In 1 condition |
| SMARCAL1SNF2 related chromatin remodeling annealing helicase 1 | Rarely (1–4%) | In 1 condition |
| CD55CD55 molecule (Cromer blood group) | Not recorded | In 1 condition |
| MYO5Bmyosin VB | 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.
Narrower traits
- Intestinal malrotation152 genes
- Intestinal obstruction50 genes
- Intestinal pseudo-obstruction36 genes
- Volvulus21 genes
- Underdeveloped instestine12 genes
- Intestinal atresia10 genes
- Intussusception10 genes
- Intestinal bleeding6 genes
- Intestinal perforation6 genes
- Intestinal lymphangiectasia5 genes
- Abnormality of the large intestine3 genes
- Intestinal fistula3 genes
- Intestinal polyp3 genes
- Abnormal small intestine morphology2 genes
- Bowel diverticulosis2 genes
- Intestinal edema2 genes
- Intestinal lymphoid nodular hyperplasia2 genes
- Abnormal enteric nervous system morphology1 gene
- Enteric anendocrinosis1 gene
- Multiple intestinal neurofibromatosis1 gene
- Abnormal intestinal smooth muscle morphology
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 2026.10.19-9814e911.
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