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breasts and/or nipples, aplasia or hypoplasia of, 2 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

breasts and/or nipples, aplasia or hypoplasia of, 2

MONDO:0014450

Also known as:PTPRF isolated congenital breast hypoplasia/aplasiabreasts and/or nipples, aplasia or hypoplasia of, type 2isolated congenital breast hypoplasia/aplasia caused by mutation in PTPRF

Overview

Any isolated congenital breast hypoplasia/aplasia in which the cause of the disease is a mutation in the PTPRF gene.

GeneticsAutosomal recessive · PTPRF (chr 1)

OnsetCONGENITAL

Clinical Presentation

Features include common findings: Small earlobe, Highly arched eyebrow, Anteverted nares, and Absent nipple and others.

Age of onset: at birth.

Explore clinical features

Genetic Landscape

PTPRF function has not been fully characterized.

Breasts and/or nipples, aplasia or hypoplasia of, 2 is associated with mutations in the PTPRF gene on chromosome 1.

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 PTPRF is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for breasts and/or nipples, aplasia or hypoplasia of, 2 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 12 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 breasts and/or nipples, aplasia or hypoplasia of, 2.

308 publications have been identified in PubMed for breasts and/or nipples, aplasia or hypoplasia of, 2. Kisho has analyzed 129 by research type. Research spans Clinical Trial Publication (29%), Review / Meta-Analysis (22%), and Diagnostic / Biomarker (16%).

Research Type	Count	% of Total
Clinical study results	37	29%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:53 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616001

GARD

Genetic and Rare Diseases Info Center

GARD:16044

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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breasts and/or nipples, aplasia or hypoplasia of, 2

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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