breasts and/or nipples, aplasia or hypoplasia of, 2
Findings
No curated finding names breasts and/or nipples, aplasia or hypoplasia of, 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any isolated congenital breast hypoplasia/aplasia in which the cause of the disease is a mutation in the PTPRF gene.
Definition from the Mondo Disease Ontology (MONDO:0014450), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
12 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Absent nippleHPOHP:0002561
- 2 of 3 reported patients · Congenital onset
- Anteverted naresHPOHP:0000463
- 2 of 3 reported patients
- Broad nasal tipHPOHP:0000455
- 2 of 3 reported patients
- Highly arched eyebrowHPOHP:0002553
- 2 of 3 reported patients
- Smooth philtrumHPOHP:0000319
- 2 of 3 reported patients
- CryptorchidismHPOHP:0000028
- 1 of 2 reported patients · Male
- Male urethral meatus stenosisHPO
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PTPRFHGNC:9670
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Limited · G2P · Autosomal recessive · 2025
Where it sits
Other names
3 names
Resolves to: breasts and/or nipples, aplasia or hypoplasia of, 2
- Also called
- breasts and/or nipples, aplasia or hypoplasia of, type 2isolated congenital breast hypoplasia/aplasia caused by mutation in PTPRFPTPRF isolated congenital breast hypoplasia/aplasia