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Breasts and/or nipples, aplasia or hypoplasia of, 2(BNAH2)

MedGen UID:
863355
•Concept ID:
C4014918
•
Congenital Abnormality
Synonym: BNAH2
 
Gene (location): PTPRF (1p34.2)
 
Monarch Initiative: MONDO:0014450
OMIM®: 616001

Definition

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. [from OMIM]

Clinical features

From HPO
Cryptorchidism
MedGen UID:
8192
•Concept ID:
C0010417
•
Congenital Abnormality
Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002).
See: Feature record | Search on this feature
Male urethral meatus stenosis
MedGen UID:
1694020
•Concept ID:
C4760707
•
Disease or Syndrome
An abnormal narrowing of the urethral opening (meatus) of the penis.
See: Feature record | Search on this feature
Bilateral single transverse palmar creases
MedGen UID:
354661
•Concept ID:
C1862095
•
Finding
The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands.
See: Feature record | Search on this feature
Small earlobe
MedGen UID:
334587
•Concept ID:
C1842680
•
Finding
Reduced volume of the earlobe.
See: Feature record | Search on this feature
Broad nasal tip
MedGen UID:
98424
•Concept ID:
C0426429
•
Finding
Increase in width of the nasal tip.
See: Feature record | Search on this feature
Smooth philtrum
MedGen UID:
222980
•Concept ID:
C1142533
•
Finding
Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.
See: Feature record | Search on this feature
Anteverted nares
MedGen UID:
326648
•Concept ID:
C1840077
•
Finding
Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).
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Widely spaced teeth
MedGen UID:
337093
•Concept ID:
C1844813
•
Finding
Increased spaces (diastemata) between most of the teeth in the same dental arch.
See: Feature record | Search on this feature
Highly arched eyebrow
MedGen UID:
358357
•Concept ID:
C1868571
•
Finding
Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.
See: Feature record | Search on this feature
Absent nipple
MedGen UID:
64223
•Concept ID:
C0175755
•
Congenital Abnormality
Congenital failure to develop, and absence of, the nipple.
See: Feature record | Search on this feature
Hypoplastic nipples
MedGen UID:
98156
•Concept ID:
C0432355
•
Congenital Abnormality
Underdevelopment of the nipple.
See: Feature record | Search on this feature
Hypoplastic areola
MedGen UID:
477663
•Concept ID:
C3276032
•
Finding
Underdevelopment of the areola, the circular area of pigmented skin surrounding the nipple.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Management of toxicities from immunotherapy: ESMO Clinical Practice Guideline for diagnosis, treatment and follow-up.
Haanen J, Obeid M, Spain L, Carbonnel F, Wang Y, Robert C, Lyon AR, Wick W, Kostine M, Peters S, Jordan K, Larkin J; ESMO Guidelines Committee. Electronic address: clinicalguidelines@esmo.org
Ann Oncol 2022 Dec;33(12):1217-1238. Epub 2022 Oct 18 doi: 10.1016/j.annonc.2022.10.001. PMID: 36270461
Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.
Northrup H, Aronow ME, Bebin EM, Bissler J, Darling TN, de Vries PJ, Frost MD, Fuchs Z, Gosnell ES, Gupta N, Jansen AC, Jóźwiak S, Kingswood JC, Knilans TK, McCormack FX, Pounders A, Roberds SL, Rodriguez-Buritica DF, Roth J, Sampson JR, Sparagana S, Thiele EA, Weiner HL, Wheless JW, Towbin AJ, Krueger DA; International Tuberous Sclerosis Complex Consensus Group
Pediatr Neurol 2021 Oct;123:50-66. Epub 2021 Jul 24 doi: 10.1016/j.pediatrneurol.2021.07.011. PMID: 34399110
Clinical Consensus Statement: Ankyloglossia in Children.
Messner AH, Walsh J, Rosenfeld RM, Schwartz SR, Ishman SL, Baldassari C, Brietzke SE, Darrow DH, Goldstein N, Levi J, Meyer AK, Parikh S, Simons JP, Wohl DL, Lambie E, Satterfield L
Otolaryngol Head Neck Surg 2020 May;162(5):597-611. Epub 2020 Apr 14 doi: 10.1177/0194599820915457. PMID: 32283998

Recent clinical studies

Etiology

Supplemental Breast Cancer Screening in Women with Dense Breasts and Negative Mammography: A Systematic Review and Meta-Analysis.
Hussein H, Abbas E, Keshavarzi S, Fazelzad R, Bukhanov K, Kulkarni S, Au F, Ghai S, Alabousi A, Freitas V
Radiology 2023 Mar;306(3):e221785. Epub 2023 Jan 31 doi: 10.1148/radiol.221785. PMID: 36719288
Re-thinking lactation-related nipple pain and damage.
Douglas P
Womens Health (Lond) 2022 Jan-Dec;18:17455057221087865. doi: 10.1177/17455057221087865. PMID: 35343816Free PMC Article
An overview of mammographic density and its association with breast cancer.
Nazari SS, Mukherjee P
Breast Cancer 2018 May;25(3):259-267. Epub 2018 Apr 12 doi: 10.1007/s12282-018-0857-5. PMID: 29651637Free PMC Article
Breast reduction.
Hammond DC, Loffredo M
Plast Reconstr Surg 2012 May;129(5):829e-839e. doi: 10.1097/PRS.0b013e31824a2efc. PMID: 22544113
Redefining gigantomastia.
Dafydd H, Roehl KR, Phillips LG, Dancey A, Peart F, Shokrollahi K
J Plast Reconstr Aesthet Surg 2011 Feb;64(2):160-3. Epub 2010 Jun 8 doi: 10.1016/j.bjps.2010.04.043. PMID: 20965141

Diagnosis

Artificial Intelligence for Breast US.
Villa-Camacho JC, Baikpour M, Chou SS
J Breast Imaging 2023 Feb 6;5(1):11-20. doi: 10.1093/jbi/wbac077. PMID: 38416959
Re-thinking lactation-related nipple pain and damage.
Douglas P
Womens Health (Lond) 2022 Jan-Dec;18:17455057221087865. doi: 10.1177/17455057221087865. PMID: 35343816Free PMC Article
Fibrocystic Breast Changes.
Faguy K
Radiol Technol 2022 Jan;93(3):303M-315M. PMID: 35017277
Breast Biomechanics: What Do We Really Know?
McGhee DE, Steele JR
Physiology (Bethesda) 2020 Mar 1;35(2):144-156. doi: 10.1152/physiol.00024.2019. PMID: 32027563
An overview of mammographic density and its association with breast cancer.
Nazari SS, Mukherjee P
Breast Cancer 2018 May;25(3):259-267. Epub 2018 Apr 12 doi: 10.1007/s12282-018-0857-5. PMID: 29651637Free PMC Article

Therapy

Supplemental Breast Cancer Screening in Women with Dense Breasts and Negative Mammography: A Systematic Review and Meta-Analysis.
Hussein H, Abbas E, Keshavarzi S, Fazelzad R, Bukhanov K, Kulkarni S, Au F, Ghai S, Alabousi A, Freitas V
Radiology 2023 Mar;306(3):e221785. Epub 2023 Jan 31 doi: 10.1148/radiol.221785. PMID: 36719288
Breast Cancer Screening, Mammography, and Other Modalities.
Fiorica JV
Clin Obstet Gynecol 2016 Dec;59(4):688-709. doi: 10.1097/GRF.0000000000000246. PMID: 27741212
Avoiding Complications in Gigantomastia.
Kling RE, Tobler WD Jr, Gusenoff JA, Rubin JP
Clin Plast Surg 2016 Apr;43(2):429-39. Epub 2016 Feb 15 doi: 10.1016/j.cps.2015.12.006. PMID: 27012802
Breast reduction.
Hammond DC, Loffredo M
Plast Reconstr Surg 2012 May;129(5):829e-839e. doi: 10.1097/PRS.0b013e31824a2efc. PMID: 22544113
Long-term results of hypofractionated radiation therapy for breast cancer.
Whelan TJ, Pignol JP, Levine MN, Julian JA, MacKenzie R, Parpia S, Shelley W, Grimard L, Bowen J, Lukka H, Perera F, Fyles A, Schneider K, Gulavita S, Freeman C
N Engl J Med 2010 Feb 11;362(6):513-20. doi: 10.1056/NEJMoa0906260. PMID: 20147717

Prognosis

MRI of the Lactating Breast.
Xu K, Chung M, Hayward JH, Kelil T, Lee AY, Ray KM
Radiographics 2024 Feb;44(2):e230129. doi: 10.1148/rg.230129. PMID: 38300813
A retrospective review of phyllodes tumors of the breast from a single institution.
Yuniandini A, Hamdani W, Prihantono P, Faruk M
Breast Dis 2021;40(S1):S63-S70. doi: 10.3233/BD-219009. PMID: 34092583
Skin diseases of the breast and nipple: Benign and malignant tumors.
Waldman RA, Finch J, Grant-Kels JM, Stevenson C, Whitaker-Worth D
J Am Acad Dermatol 2019 Jun;80(6):1467-1481. Epub 2018 Nov 16 doi: 10.1016/j.jaad.2018.08.066. PMID: 30452954
Mastopexy and Mastopexy-Augmentation.
Qureshi AA, Myckatyn TM, Tenenbaum MM
Aesthet Surg J 2018 Mar 14;38(4):374-384. doi: 10.1093/asj/sjx181. PMID: 29365038
Dermatopathology of the female breast.
Peters MS, Lehman JS, Comfere NI
Am J Dermatopathol 2013 May;35(3):289-304; quiz 305-7. doi: 10.1097/DAD.0b013e318267caa3. PMID: 23598853

Clinical prediction guides

WSI validation studies in breast and gynecological pathology.
Mastrosimini MG, Eccher A, Nottegar A, Montin U, Scarpa A, Pantanowitz L, Girolami I
Pathol Res Pract 2022 Dec;240:154191. Epub 2022 Oct 28 doi: 10.1016/j.prp.2022.154191. PMID: 36356336
Clinical characteristics and treatment of chest submammary accessory breasts.
Lee SR, Park JY
J Plast Reconstr Aesthet Surg 2022 Jun;75(6):1858-1860. Epub 2022 Jan 31 doi: 10.1016/j.bjps.2022.01.051. PMID: 35181247
Meta-analysis: Architectural distortion and breast MRI.
Ferre R, Kuzmiak CM
Breast Dis 2022;41(1):205-214. doi: 10.3233/BD-210045. PMID: 35094984
Dermatopathology of the female breast.
Peters MS, Lehman JS, Comfere NI
Am J Dermatopathol 2013 May;35(3):289-304; quiz 305-7. doi: 10.1097/DAD.0b013e318267caa3. PMID: 23598853
Diseases of the male nipple and areola.
Krause W
J Dtsch Dermatol Ges 2011 Dec;9(12):1004-9. Epub 2011 Jun 9 doi: 10.1111/j.1610-0387.2011.07720.x. PMID: 21651722

Recent systematic reviews

Mammographic breast density and the risk of breast cancer: A systematic review and meta-analysis.
Bodewes FTH, van Asselt AA, Dorrius MD, Greuter MJW, de Bock GH
Breast 2022 Dec;66:62-68. Epub 2022 Sep 26 doi: 10.1016/j.breast.2022.09.007. PMID: 36183671Free PMC Article
Global guidelines for breast cancer screening: A systematic review.
Ren W, Chen M, Qiao Y, Zhao F
Breast 2022 Aug;64:85-99. Epub 2022 Apr 19 doi: 10.1016/j.breast.2022.04.003. PMID: 35636342Free PMC Article
Malignant phyllodes tumor of the breast: a systematic review.
Lissidini G, Mulè A, Santoro A, Papa G, Nicosia L, Cassano E, Ashoor AA, Veronesi P, Pantanowitz L, Hornick JL, Rossi ED
Pathologica 2022 Apr;114(2):111-120. Epub 2022 Apr 13 doi: 10.32074/1591-951X-754. PMID: 35414723Free PMC Article
Soy Isoflavones and Breast Cancer Risk: A Meta-analysis.
Boutas I, Kontogeorgi A, Dimitrakakis C, Kalantaridou SN
In Vivo 2022 Mar-Apr;36(2):556-562. doi: 10.21873/invivo.12737. PMID: 35241506Free PMC Article
The prevalence of molar-incisor hypomineralization: a systematic review and meta-analysis.
Lopes LB, Machado V, Mascarenhas P, Mendes JJ, Botelho J
Sci Rep 2021 Nov 17;11(1):22405. doi: 10.1038/s41598-021-01541-7. PMID: 34789780Free PMC Article

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      Clinical tests in GTR
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      OMIM records containing genes associated with phenotypes registered in MedGen
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