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

hypotrichosis-lymphedema-telangiectasia-renal defect syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypotrichosis-lymphedema-telangiectasia-renal defect syndrome

MONDO:0019073

Also known as:hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndromeHLTRSglomerulonephritis with sparse hair and telangiectases

Overview

GeneticsAutosomal dominant · SOX18 (chr 20)

OnsetANTENATAL

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 always present findings: Absent eyebrow, Absent eyelashes, Lymphedema, and Hydrocele testis and others; and common findings: Dermal translucency. 28 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	6	Alopecia, Facial telangiectasia in butterfly midface distribution, Telangiectasia of extensor surfaces

Genetic Landscape

SOX18 function has not been fully characterized.

Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome is associated with mutations in the SOX18 gene on chromosome 20.

Diagnosis

Genetic testing for SOX18 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hypotrichosis-lymphedema-telangiectasia-renal defect syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 5 always present features, 1 common feature.

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 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome.

107 publications have been identified in PubMed for hypotrichosis-lymphedema-telangiectasia-renal defect syndrome. Research spans Review / Meta-Analysis (45%), Basic Science / Preclinical (18%), and Case Report / Case Series (12%).

Research Type	Count	% of Total
Research summaries	48	45%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 2:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:137940

GARD

Genetic and Rare Diseases Info Center

GARD:2492

Questions for Your Care Team

→Should I pursue genetic testing for SOX18, and what would the results mean for my family?
→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

Kisho

hypotrichosis-lymphedema-telangiectasia-renal defect syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

hypotrichosis-lymphedema-telangiectasia-renal defect syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications