Breasts And/or Nipples, Aplasia Or Hypoplasia Of, 1; Bnah1

Description

Congnital aplastic deformities of the breast include amastia (total absence of breasts and nipple), athelia (absence of the nipple), and amazia (absence of the mammary gland). Most common is amastia. Bilateral absence of the breasts may occur as an isolated anomaly or may be associated with a syndrome or a cluster of other anomalies, including anhidrotic ectodermal dysplasia (OMIM ) and Poland syndrome (OMIM ) (summary by Papadimitriou et al., 2009). Genetic Heterogeneity of Aplasia or Hypoplasia of Breasts and/or NipplesAn autosomal recessive form of breast and/or nipple aplasia or hypoplasia (BNAH2 ) is caused by mutation in the PTPRF gene (OMIM ) on chromosome 1p34.

Clinical Features

Phenotypes and symptoms related to Breasts And/or Nipples, Aplasia Or Hypoplasia Of, 1; Bnah1

  • Choanal atresia
  • Aplasia/Hypoplasia of the nipples
  • Absent nipple
  • Aplasia/Hypoplasia of the breasts

Incidence and onset information

Not enough data available about incidence and published cases.


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Breasts And/or Nipples, Aplasia Or Hypoplasia Of, 1; Bnah1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Breasts aplasia (sequence analysis of PTPRF gene).

By CGC Genetics in Portugal.

PTPRF
Specificity
100 %
Genes
100 %
PTPRF.

By Fulgent Genetics Fulgent Genetics in United States.

PTPRF
Specificity
100 %
Genes
100 %
Isolated Breasts and/or Nipples Aplasia or Hypoplasia , Sequencing PTPRF Gene.

By Reference Laboratory Genetics in Spain.

PTPRF
Specificity
100 %
Genes
100 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
100 %

Alternate names

Breasts And/or Nipples, Aplasia Or Hypoplasia Of, 1; Bnah1 Is also known as amastia, athelia, amazia;isolated congenital amastia.



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