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reticulate pigment disorder - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

reticulate pigment disorder

MONDO:0000118

Also known as:reticulate pigment disorders

Overview

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.

GeneReviews

Clinical Guidance

In its most characteristic form, Aicardi-Goutires syndrome (AGS) can be considered an early-onset encephalopathy associated with significant intellectual and physical disability. Pregnancy, delivery, and the neonatal period are normal in approximately 80% of infants with Aicardi-Goutires syndrome (AGS) . However, brain calcifications can be identified in utero and 20% of cases, mainly those caused by biallelic pathogenic variants in TREX1, present at birth with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, and thrombocytopenia, a picture reminiscent of congenital infection. All other affected infants present at variable times after the first few weeks of life, frequently after a period of apparently normal development.

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

In its most characteristic form, Aicardi-Goutires syndrome (AGS) can be considered an early-onset encephalopathy associated with significant intellectual and physical disability.

Suggestive Findings

Aicardi-Goutires syndrome (AGS) should be suspected in individuals with the following clinical, neuroimaging, and supportive laboratory findings [, , , ].

Clinical features

Encephalopathy and/or significant intellectual disability

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 reticulate pigment 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 Aicardi-Goutires syndrome (AGS), the following evaluations are recommended:

Developmental assessment

Prognosis

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

GeneReviews

Surveillance Guidelines

Surveillance includes the following:

Monitoring for signs of diabetes insipidus in the neonatal period
Assessment for glaucoma at least for the first few years of life
Monitoring of the spine for the development of scoliosis

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 reticulate pigment disorder.

13 publications have been identified in PubMed for reticulate pigment disorder. Research spans Case Report / Case Series (69%), Review / Meta-Analysis (23%), and Clinical Trial Publication (8%).

Research Type	Count	% of Total
Patient case studies	9	69%

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 11:55 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

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?

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Kisho

reticulate pigment disorder

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Treatment of Manifestations

Surveillance

Evaluation of Relatives at Risk

Therapies Under Investigation

Other

Therapies Under Investigation

Clinical Trials

Recent Publications

reticulate pigment disorder

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Treatment of Manifestations

Surveillance

Evaluation of Relatives at Risk

Therapies Under Investigation

Other

Therapies Under Investigation

Clinical Trials

Recent Publications