BNAH2
MCID: BRS100
MIFTS: 17

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 57 29 6 73
Bnah2 57 75
Breasts and/or Nipples, Aplasia or Hypoplasia of, Type 2 40
Aplasia or Hypoplasia of the Breasts and/or Nipples 2 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
breasts and/or nipples, aplasia or hypoplasia of, 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 616001
UMLS 73 C4014918

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

OMIM : 57 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 (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 : 75 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

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 smooth philtrum 32 HP:0000319
2 broad nasal tip 32 HP:0000455
3 small earlobe 32 HP:0000385
4 hypoplastic nipples 32 HP:0002557
5 absent nipple 32 HP:0002561

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:

41
Breast

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

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 Variation Type Significance SNP ID Assembly Location
1 PTPRF NM_002840.4(PTPRF): c.1847_1848delTG (p.Val616Glufs) deletion Pathogenic rs1131692054 GRCh37 Chromosome 1, 44063452: 44063453
2 PTPRF NM_002840.4(PTPRF): c.1847_1848delTG (p.Val616Glufs) deletion Pathogenic rs1131692054 GRCh38 Chromosome 1, 43597781: 43597782

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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