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hydrolethalus syndrome 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hydrolethalus syndrome 2

MONDO:0013585

Also known as:KIF7 hydrolethalus syndromehydrolethalus syndrome caused by mutation in KIF7hydrolethalus syndrome type 2

Overview

Any hydrolethalus syndrome in which the cause of the disease is a mutation in the KIF7 gene.

GeneticsAutosomal recessive · KIF7 (chr 15)

ResearchLimited published research (5 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: Molar tooth sign on MRI; and common findings: Cleft palate, Anencephaly, Postaxial hand polydactyly, and Hydrocephalus and others. 10 total HPO annotations.

Organ System	Phenotype Count	Example Features
Arms and legs	3	Postaxial hand polydactyly, Postaxial foot polydactyly, Preaxial foot 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.

KIF7 encodes kinesin family member 7 (1,343 aa). Essential for hedgehog signaling regulation: acts both as a negative and positive regulator of sonic hedgehog (Shh) and Indian hedgehog (Ihh) pathways, acting downstream of SMO, through both SUFU-dependent and -independent mechanisms. Highest expression in Cervix Ectocervix (23.0 TPM) and Artery Aorta (21.6 TPM).

Hydrolethalus syndrome 2 is associated with mutations in the KIF7 gene on chromosome 15.

The KIF7 protein participates in GLI:SUFU translocates to the ciliary tip in response to Hh signaling pathway.

KIF7 is classified as a druggable target (Transcription Factor category) with score 0.0.

Diagnosis

Genetic testing for KIF7 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 6 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 2.

5 publications have been identified in PubMed for hydrolethalus syndrome 2. Research spans Case Report / Case Series (60%), Basic Science / Preclinical (20%), and Epidemiology / Natural History (20%).

Recent Publications

Belengeanu V (2025). [PMID: 39857086](https://pubmed.ncbi.nlm.nih.gov/39857086/). *Diagnostics (Basel)*. [Case Report / Case Series]
Pedraza M (2025). [PMID: 40956303](https://pubmed.ncbi.nlm.nih.gov/40956303/). *Elife*. [Basic Science / Preclinical]
Deconte D (2024). [PMID: 39063141](https://pubmed.ncbi.nlm.nih.gov/39063141/). *Int J Mol Sci*. [Case Report / Case Series]
Ruiz-Matos SJ (2024). [PMID: 39036105](https://pubmed.ncbi.nlm.nih.gov/39036105/). *Cureus*. [Case Report / Case Series]
Orlova M (2024). [PMID: 39092430](https://pubmed.ncbi.nlm.nih.gov/39092430/). *Front Genet*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:54 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614120

GARD

Genetic and Rare Diseases Info Center

GARD:15759

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 2

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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