Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

trichohepatoenteric syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

trichohepatoenteric syndrome

MONDO:0009105

Also known as:SD/THETricho-hepato-enteric syndromeTrichohepatoenteric syndrome type 1

Overview

A severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.

OnsetCONGENITAL, ANTENATAL

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Abnormal facial shape, Intractable diarrhea, Woolly hair, and Immunodeficiency; and common findings: Hypertelorism, Broad forehead, Wide nasal bridge, and Mild intellectual disability and others. 52 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	9	Intractable diarrhea, Abnormality of the liver, Liver scarring (cirrhosis) (cirrhosis)

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

To date, no diagnostic algorithm for trichohepatoenteric syndrome (THES) has been published.

Suggestive Findings

THES should be suspected in individuals with the following clinical findings :

Source: GeneReviews — "Trichohepatoenteric Syndrome"

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for trichohepatoenteric syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with trichohepatoenteric syndrome (THES), the following evaluations are recommended:

Nutritional evaluation by a specialist pediatric nutritionist

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Although there are no consensus guidelines, the following surveillance is recommended:

For children not receiving parenteral nutrition, close monitoring of nutritional status by a pediatric nutritionist to assure prompt intervention should nutritional deficiency become a concern
Yearly assessment of the following main features:

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for trichohepatoenteric syndrome.

15 publications have been identified in PubMed for trichohepatoenteric syndrome. Research spans Case Report / Case Series (60%), Review / Meta-Analysis (20%), and Other (7%).

Research Type	Count	% of Total
Patient case studies	9	60%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:01 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:84064

GARD

Genetic and Rare Diseases Info Center

GARD:5258

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Differential Diagnosis

Table 3. Monogenic Disorders with Intractable Diarrhea to Consider in the Differential Diagnosis of Trichohepatoenteric Syndrome

Disorder	Gene	MOI	Distinguishing Clinical Features of Differential Diagnosis Disorder
EPCAM	AR	Specific intestinal pathology (tuft) IPEX syndrome	—
FOXP3	XL	Low regulatory T cells Gastrointestinal defects and immunodeficiency syndrome (OMIM 243150)	—
TTC7A	AR	Duodenal atresia Syndromic congenital tufting enteropathy (OMIM 270420)	—
SPINT2	AR	Specific intestinal pathology (tuft)Choanal atresia AR = autosomal recessive; IPEX = immune dysregulation, polyendocrinopathy, enteropathy, X-linked; MOI = mode of inheritance; XL = X-linked See Diarrhea, congenital: OMIM Phenotypic Series to view genes associated with this phenotype in OMIM.	—

Source: GeneReviews — "Trichohepatoenteric Syndrome"

Kisho

trichohepatoenteric syndrome

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

Treatment of Manifestations

Therapies Under Investigation

Clinical Trials

Recent Publications

trichohepatoenteric syndrome

Overview

Clinical Presentation

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

Treatment of Manifestations

Therapies Under Investigation

Clinical Trials

Recent Publications