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hydrolethalus syndrome 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hydrolethalus syndrome 1

MONDO:0009365

Also known as:hydrolethalus syndromeHYLS1 hydrolethalus syndromehydrolethalus syndrome caused by mutation in HYLS1

Overview

Any hydrolethalus syndrome in which the cause of the disease is a mutation in the HYLS1 gene.

GeneticsAutosomal recessive · HYLS1 (chr 11)

OnsetCONGENITAL

ResearchLimited published research (6 articles)

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: Micrognathia; and very common findings: Midline defect of the nose, Polyhydramnios, Microphthalmia, and Severe hydrocephalus. 39 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	3	Preaxial hand polydactyly, Upper limb undergrowth, Postaxial hand polydactyly

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

HYLS1 encodes HYLS1 centriolar and ciliogenesis associated (299 aa). Plays a role in ciliogenesis Highest expression in Testis (33.1 TPM) and Cells EBV-transformed lymphocytes (10.4 TPM).

Hydrolethalus syndrome 1 is associated with mutations in the HYLS1 gene on chromosome 11.

HYLS1 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for HYLS1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hydrolethalus syndrome 1 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 4 very common features, 10 common 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 hydrolethalus syndrome 1.

6 publications have been identified in PubMed for hydrolethalus syndrome 1. Research spans Case Report / Case Series (67%), Diagnostic / Biomarker (17%), and Basic Science / Preclinical (17%).

Recent Publications

Belengeanu V (2025). [PMID: 39857086](https://pubmed.ncbi.nlm.nih.gov/39857086/). *Diagnostics (Basel)*. [Case Report / Case Series]
Rajala K (2025). [PMID: 39674903](https://pubmed.ncbi.nlm.nih.gov/39674903/). *Prenat Diagn*. [Diagnostic / Biomarker]
Curinha A (2025). [PMID: 40009365](https://pubmed.ncbi.nlm.nih.gov/40009365/). *J Cell Biol*. [Basic Science / Preclinical]
Deconte D (2024). [PMID: 39063141](https://pubmed.ncbi.nlm.nih.gov/39063141/). *Int J Mol Sci*. [Case Report / Case Series]
Gana S (2024). [PMID: 39626953](https://pubmed.ncbi.nlm.nih.gov/39626953/). *J Med Genet*. [Case Report / Case Series]
Daigavane P (2024). [PMID: 38779256](https://pubmed.ncbi.nlm.nih.gov/38779256/). *Cureus*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:03 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:236680

GARD

Genetic and Rare Diseases Info Center

GARD:15182

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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hydrolethalus syndrome 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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