BNAH2
MCID: BRS100
MIFTS: 18

Breasts and/or Nipples, Aplasia or Hypoplasia of, 2 (BNAH2)

Categories: Endocrine diseases, Genetic diseases

Aliases & Classifications for Breasts and/or Nipples, Aplasia or Hypoplasia of, 2

MalaCards integrated aliases for Breasts and/or Nipples, Aplasia or Hypoplasia of, 2:

Name: Breasts and/or Nipples, Aplasia or Hypoplasia of, 2 56 29 6 71
Bnah2 56 73
Breasts and/or Nipples, Aplasia or Hypoplasia of, Type 2 39
Aplasia or Hypoplasia of the Breasts and/or Nipples 2 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
one israeli arab family has been reported with ptprf mutation (last curated september 2014)


HPO:

31
breasts and/or nipples, aplasia or hypoplasia of, 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 56 616001
OMIM Phenotypic Series 56 PS113700
UMLS 71 C4014918

Summaries for Breasts and/or Nipples, Aplasia or Hypoplasia of, 2

OMIM : 56 Congenital 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 (305100) or Poland syndrome (173800) (summary by Papadimitriou et al., 2009). For a discussion of genetic heterogeneity of aplasia or hypoplasia of the breasts and/or nipples, see 113700. (616001)

MalaCards based summary : Breasts and/or Nipples, Aplasia or Hypoplasia of, 2, is also known as bnah2. An important gene associated with Breasts and/or Nipples, Aplasia or Hypoplasia of, 2 is PTPRF (Protein Tyrosine Phosphatase Receptor Type F). Affiliated tissues include breast, and related phenotypes are smooth philtrum and broad nasal tip

UniProtKB/Swiss-Prot : 73 Aplasia or hypoplasia of the breasts and/or nipples 2: A group of congenital deformities encompassing total absence of breasts and nipple (amastia), absence of the nipple (athelia), and absence of the mammary gland (amazia).

Related Diseases for Breasts and/or Nipples, Aplasia or Hypoplasia of, 2

Diseases in the Breasts and/or Nipples, Aplasia or Hypoplasia of, 1 family:

Breasts and/or Nipples, Aplasia or Hypoplasia of, 2

Symptoms & Phenotypes for Breasts and/or Nipples, Aplasia or Hypoplasia of, 2

Human phenotypes related to Breasts and/or Nipples, Aplasia or Hypoplasia of, 2:

31
# Description HPO Frequency HPO Source Accession
1 smooth philtrum 31 HP:0000319
2 broad nasal tip 31 HP:0000455
3 small earlobe 31 HP:0000385
4 hypoplastic nipples 31 HP:0002557
5 absent nipple 31 HP:0002561

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Nose:
anteverted nares
broad nasal tip

Head And Neck Face:
flat philtrum

Head And Neck Eyes:
arched eyebrows with inverted v-shape laterally

Chest Breasts:
hypoplastic nipples
amastia (absent breast tissue, nipple, and areola)
absent nipples (athelia, unilateral or bilateral)
absent breast tissue (amazia, unilateral, in some patients)

Head And Neck Ears:
small earlobes
pointed upper helix

Clinical features from OMIM:

616001

Drugs & Therapeutics for Breasts and/or Nipples, Aplasia or Hypoplasia of, 2

Search Clinical Trials , NIH Clinical Center for Breasts and/or Nipples, Aplasia or Hypoplasia of, 2

Genetic Tests for Breasts and/or Nipples, Aplasia or Hypoplasia of, 2

Genetic tests related to Breasts and/or Nipples, Aplasia or Hypoplasia of, 2:

# Genetic test Affiliating Genes
1 Breasts and/or Nipples, Aplasia or Hypoplasia of, 2 29 PTPRF

Anatomical Context for Breasts and/or Nipples, Aplasia or Hypoplasia of, 2

MalaCards organs/tissues related to Breasts and/or Nipples, Aplasia or Hypoplasia of, 2:

40
Breast

Publications for Breasts and/or Nipples, Aplasia or Hypoplasia of, 2

Articles related to Breasts and/or Nipples, Aplasia or Hypoplasia of, 2:

# Title Authors PMID Year
1
Homozygous truncating PTPRF mutation causes athelia. 56 6
24781087 2014
2
Congenital bilateral amazia associated with bilateral choanal atresia. 56
19533792 2009
3
Complete breast absence in siblings. 56
5635066 1968

Variations for Breasts and/or Nipples, Aplasia or Hypoplasia of, 2

ClinVar genetic disease variations for Breasts and/or Nipples, Aplasia or Hypoplasia of, 2:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PTPRF NM_002840.5(PTPRF):c.1841_1842TG[3] (p.Val616fs)short repeat Pathogenic 155912 rs1131692054 1:44063446-44063447 1:43597775-43597776
2 PTPRF NM_002840.5(PTPRF):c.5190C>A (p.His1730Gln)SNV Uncertain significance 801472 1:44085844-44085844 1:43620173-43620173

Expression for Breasts and/or Nipples, Aplasia or Hypoplasia of, 2

Search GEO for disease gene expression data for Breasts and/or Nipples, Aplasia or Hypoplasia of, 2.

Pathways for Breasts and/or Nipples, Aplasia or Hypoplasia of, 2

GO Terms for Breasts and/or Nipples, Aplasia or Hypoplasia of, 2

Sources for Breasts and/or Nipples, Aplasia or Hypoplasia of, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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