Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease.

European journal of medical genetics - 1 Apr 2018

Neves João Farela, Afonso Isabel, Borrego Luis, Martins Catarina, Cordeiro Ana Isabel, Neves Conceição, Lacoste Caroline, Badens Catherine, Fabre Alexandre

Abstract excerpt

Tricho-hepato-enteric syndrome (SD/THE) and Multiple intestinal atresia with combined immune deficiency (MIA-CID) are autosomal recessive disorders that present immunological and gastrointestinal features. There are two different phenotypes of patients with TTC7A mutations: the severe form, caused by null mutations and leading to the classical MIA-CID; and the mild form, caused by missense mutations and leading...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Diagnosis, Differential
Share to Diarrhea, Infantile

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Facies

Share to Fetal Growth Retardation

Share to Hair Diseases

Share to Inflammatory Bowel Diseases

Share to Mutation, Missense

Share to Proteins

Source

Identifiers

PMID: 29174094
DOI: 10.1016/j.ejmg.2017.11.014

Genes

MIA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease.PMID 29174094Read ↗

Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature.Semantic proximity Read ↗

TTC7A: Steward of Intestinal HealthSemantic proximity Read ↗

Identifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype: A Global Case-report Study of a Well-Defined Syndrome With Immunodeficiency.Semantic proximity Read ↗

Tricho-Hepato-Enteric Syndrome mutation update: Mutations spectrum of TTC37 and SKIV2L, clinical analysis and future prospects.Semantic proximity Read ↗

Distinct heterozygous <i>TTC7A</i> missense variants lead to different intestinal epithelial phenotypes in pediatric IBDSemantic proximity Read ↗

Prominent Follicular Keratosis in Multiple Intestinal Atresia with Combined Immune Deficiency Caused by a TTC7A Homozygous Mutation.Semantic proximity Read ↗

Novel TTC37 Mutations in a Patient with Immunodeficiency without Diarrhea: Extending the Phenotype of Trichohepatoenteric SyndromeSemantic proximity Read ↗

Novel Mutations of the Tetratricopeptide Repeat Domain 7A Gene and Phenotype/Genotype ComparisonSemantic proximity Read ↗

Expanding the clinical spectrum in trichohepatoenteric syndrome.Semantic proximity Read ↗

Hyper IgM in tricho-hepato-enteric syndrome due to TTC37 mutation.Semantic proximity Read ↗

Novel mutations in TTC37 associated with tricho-hepato-enteric syndrome.Semantic proximity Read ↗

Multiple intestinal atresia with combined immune deficiency related to TTC7A defect is a multiorgan pathology: study of a French-Canadian-based cohort.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.