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intestinal disorder - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

intestinal disorder

MONDO:0005020

Also known as:disease of intestinedisease or disorder of intestineintestine disease

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Overview

A non-neoplastic or neoplastic disorder that affects the small or large intestine.

OnsetNEONATAL

Clinical Trials55 registered · 15 recruiting

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.

No HPO annotations are available for this condition.

Age of onset: newborn period.

GeneReviews

Clinical Guidance

Abetalipoproteinemia typically presents in infancy with failure to thrive, diarrhea, vomiting, and malabsorption of fat. The absence of apo B-containing lipoproteins and resulting deficiency of fat-soluble vitamins lead to multisystem manifestations as the affected individual ages. Gastrointestinal. Steatorrhea is the primary gastrointestinal manifestation. The severity relates to the fat content of the diet.

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

No formal clinical diagnostic criteria for abetalipoproteinemia have been published.

Suggestive Findings

Classic abetalipoproteinemia presents from birth with failure to thrive, severe diarrhea and vomiting, and malabsorption of fat. Abetalipoproteinemia should be suspected in children with the following clinical and supportive laboratory findings .

Clinical features

Failure to thrive, with diarrhea and vomiting

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 intestinal disorder. 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 abetalipoproteinemia, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with Abetalipoproteinemia

Prognosis

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

GeneReviews

Surveillance Guidelines

Clinical evaluation every six to 12 months, including assessment of diet and any gastrointestinal or neurologic symptoms, is recommended. The following evaluations are also recommended for abetalipoproteinemia . Table 5. Recommended Surveillance for Individuals with Abetalipoproteinemia

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.

55 clinical trials registered, 15 recruiting. Interventions under study include other interventions. Pipeline includes 4 PHASE4, 1 PHASE3, 4 PHASE2. Research is primarily sponsored by academic and government institutions.

NCT ID	Title	Phase	Sponsor	Status
[NCT07355777](https://clinicaltrials.gov/study/NCT07355777)

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 5:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

Questions for Your Care Team

→Are any of the 55 active clinical trials a good fit for my situation?
→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

GeneReviews

Differential Diagnosis

Table 2. Disorders to Consider in the Differential Diagnosis of Abetalipoproteinemia

Differential Disorder	Gene	MOI	Clinical Features of Differential Disorder
APOB	AR	Clinical features are indistinguishable.	Only distinguishing feature: lipid levels in heterozygotes. Obligate heterozygote parents have:; Normal lipid levels in abetalipoproteinemia;; LDL-cholesterol levels 50% of normal in hypobetalipoproteinemia. Chylomicron retention disease
SAR1B	AR	May be clinically similar (failure to thrive, steatorrhea)	In chylomicron retention disease, LDL-cholesterol apoB levels are low but not absent; triglyceride is normal creatine kinase is high (1.5-5x upper reference limit); affected persons do not typically develop pigmentary retinopathy or acanthocytosis. McLeod neuroacanthocytosis syndrome (MLS)
XK	XL	Acanthocytosis	MLS is X-linked; affected persons have normal lipid profiles no manifestations of fat-soluble vitamin deficiency (e.g., retinal disease, bone abnormalities, coagulopathy). Friedreich ataxia
FXN	AR	Broad-based, high stepping gait; Loss of proprioception	Affected persons have normal lipid profiles no manifestations of fat-soluble vitamin deficiency (e.g., retinal disease, bone abnormalities, coagulopathy). AD = autosomal dominant; AR = autosomal recessive; MOI = mode of inheritance; XL = X-linked

Source: GeneReviews — "Abetalipoproteinemia"

Research Type	Count	% of Total
Research summaries	110	49%
Laboratory research	55	24%
Disease patterns and progression	28	12%
Clinical study results	12	5%
Testing and diagnosis research	6	3%
Patient case studies	6	3%
Other research	5	2%
New treatment approaches	3	1%

Kisho

intestinal disorder

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

intestinal disorder

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications