Details of Disease

General Information of Disease (ID: DIS6UNP1)

Disease Name Breasts and/or nipples, aplasia or hypoplasia of, 2
Synonyms
BNAH2; isolated congenital breast hypoplasia/aplasia caused by mutation in PTPRF; breasts and/or nipples, aplasia or hypoplasia of, type 2; PTPRF isolated congenital breast hypoplasia/aplasia; breasts and/or nipples, aplasia or hypoplasia of, 2
Definition Any isolated congenital breast hypoplasia/aplasia in which the cause of the disease is a mutation in the PTPRF gene.
Disease Hierarchy
DIS9ODKJ: Isolated congenital breast hypoplasia/aplasia
DIS6UNP1: Breasts and/or nipples, aplasia or hypoplasia of, 2
Disease Identifiers
MONDO ID
MONDO_0014450
UMLS CUI
C4014918
OMIM ID
616001
MedGen ID
863355

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PTPRF OTH5KF2D Strong Autosomal recessive [1]
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References

1 Whole exome sequencing suggests much of non-BRCA1/BRCA2 familial breast cancer is due to moderate and low penetrance susceptibility alleles. PLoS One. 2013;8(2):e55681. doi: 10.1371/journal.pone.0055681. Epub 2013 Feb 8.