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 58 30 6 74
Bnah2 58 76
Breasts and/or Nipples, Aplasia or Hypoplasia of, Type 2 41
Aplasia or Hypoplasia of the Breasts and/or Nipples 2 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
breasts and/or nipples, aplasia or hypoplasia of, 2:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 616001
UMLS 74 C4014918

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

OMIM : 58 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 : 76 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

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

33
# Description HPO Frequency HPO Source Accession
1 smooth philtrum 33 HP:0000319
2 broad nasal tip 33 HP:0000455
3 small earlobe 33 HP:0000385
4 hypoplastic nipples 33 HP:0002557
5 absent nipple 33 HP:0002561

Symptoms via clinical synopsis from OMIM:

58
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 30 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:

42
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 Year
1
Homozygous truncating PTPRF mutation causes athelia. ( 24781087 )
2014

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_1848del (p.Val616Glufs) deletion Pathogenic rs1131692054 GRCh37 Chromosome 1, 44063452: 44063453
2 PTPRF NM_002840.4(PTPRF): c.1847_1848del (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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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