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hearing loss, autosomal recessive 100 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hearing loss, autosomal recessive 100

MONDO:0032740

Also known as:DFNB100deafness, autosomal recessive 100

Overview

GeneticsAutosomal recessive · PPIP5K2 (chr 5)

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: Inner ear hearing loss (sensorineural hearing impairment). 3 total HPO annotations.

Organ System	Phenotype Count	Example Features
Ears	2	Abnormal vestibular function, Inner ear hearing loss (sensorineural hearing impairment)

Explore clinical features

Genetic Landscape

PPIP5K2 function has not been fully characterized.

Hearing loss, autosomal recessive 100 is associated with mutations in the PPIP5K2 gene on chromosome 5.

Diagnosis

Genetic testing for PPIP5K2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hearing loss, autosomal recessive 100 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present 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 hearing loss, autosomal recessive 100.

24 publications have been identified in PubMed for hearing loss, autosomal recessive 100. Research spans Case Report / Case Series (26%), Basic Science / Preclinical (22%), and Diagnostic / Biomarker (17%).

Research Type	Count	% of Total
Patient case studies	6	26%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 1:01 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618422

GARD

Genetic and Rare Diseases Info Center

GARD:22660

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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hearing loss, autosomal recessive 100

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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