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autosomal recessive nonsyndromic hearing loss 70 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal recessive nonsyndromic hearing loss 70

MONDO:0013978

Also known as:DFNB70PNPT1 autosomal recessive nonsyndromic deafnessautosomal recessive deafness 70

Overview

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PNPT1 gene.

GeneticsAutosomal recessive · PNPT1 (chr 2)

OnsetCHILDHOOD

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: Hearing loss (hearing impairment). 3 total HPO annotations.

Organ System	Phenotype Count	Example Features
Ears	2	Hearing loss (hearing impairment), Abnormal vestibular function
Brain and nerves

Genetic Landscape

PNPT1 function has not been fully characterized.

Autosomal recessive nonsyndromic hearing loss 70 is associated with mutations in the PNPT1 gene on chromosome 2.

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.

Genetic testing for PNPT1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for autosomal recessive nonsyndromic hearing loss 70 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 autosomal recessive nonsyndromic hearing loss 70.

10 publications have been identified in PubMed for autosomal recessive nonsyndromic hearing loss 70. Research spans Case Report / Case Series (30%), Epidemiology / Natural History (20%), and Diagnostic / Biomarker (10%).

Research Type	Count	% of Total
Patient case studies	3	30%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 5:38 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614934

GARD

Genetic and Rare Diseases Info Center

GARD:22646

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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Kisho

autosomal recessive nonsyndromic hearing loss 70

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

autosomal recessive nonsyndromic hearing loss 70

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