BNAH1
MCID: BRS108
MIFTS: 23

Breasts and/or Nipples, Aplasia or Hypoplasia of, 1 (BNAH1)

Categories: Endocrine diseases, Genetic diseases

Aliases & Classifications for Breasts and/or Nipples, Aplasia or Hypoplasia of, 1

MalaCards integrated aliases for Breasts and/or Nipples, Aplasia or Hypoplasia of, 1:

Name: Breasts and/or Nipples, Aplasia or Hypoplasia of, 1 56
Breasts and/or Nipples, Aplasia of Hypoplasia of, 1 56
Amastia 56
Athelia 56
Amazia 56
Bnah1 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
breasts and/or nipples, aplasia or hypoplasia of, 1:
Inheritance x-linked inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 113700
OMIM Phenotypic Series 56 PS113700
MedGen 41 C0432357

Summaries for Breasts and/or Nipples, Aplasia or Hypoplasia of, 1

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) and Poland syndrome (173800) (summary by Papadimitriou et al., 2009). (113700)

MalaCards based summary : Breasts and/or Nipples, Aplasia or Hypoplasia of, 1, also known as breasts and/or nipples, aplasia of hypoplasia of, 1, is related to amastia, bilateral, with ureteral triplication and dysmorphism and isolated congenital breast hypoplasia/aplasia. Affiliated tissues include breast, thyroid and heart, and related phenotypes are choanal atresia and hypoplastic areola

Related Diseases for Breasts and/or Nipples, Aplasia or Hypoplasia of, 1

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

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

Diseases related to Breasts and/or Nipples, Aplasia or Hypoplasia of, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
# Related Disease Score Top Affiliating Genes
1 amastia, bilateral, with ureteral triplication and dysmorphism 12.4
2 isolated congenital breast hypoplasia/aplasia 11.6
3 scalp-ear-nipple syndrome 11.5
4 limb-mammary syndrome 11.5
5 breasts and/or nipples, aplasia or hypoplasia of, 2 11.5
6 ectodermal dysplasia, trichoodontoonychial type 11.2
7 absent breasts and nipples 11.2
8 adult syndrome 11.2
9 methimazole antenatal exposure 11.2
10 ectodermal dysplasia 10.5
11 choanal atresia, posterior 10.3
12 poland syndrome 10.2
13 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 10.2
14 hypertelorism 10.1
15 pectus excavatum 10.1
16 chromosome 2q35 duplication syndrome 10.1
17 tracheoesophageal fistula with or without esophageal atresia 10.1
18 renal hypodysplasia/aplasia 1 10.1
19 aredyld 10.1
20 mckusick-kaufman syndrome 10.1
21 ectodermal dysplasia 1, hypohidrotic, x-linked 10.1
22 patent ductus arteriosus 1 10.1
23 ptosis 10.1
24 umbilical hernia 10.1
25 esophageal atresia 10.1
26 hypospadias 10.1
27 keratosis 10.1
28 hypohidrotic ectodermal dysplasia autosomal recessive 10.1
29 anus, imperforate 10.0
30 carbimazole sensitivity 10.0
31 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia 10.0
32 jejunal atresia 10.0
33 benign teratoma 10.0
34 oligohydramnios 10.0
35 hypothyroidism 10.0
36 ventricular septal defect 10.0
37 heart septal defect 10.0
38 cystic teratoma 10.0
39 mature teratoma 10.0
40 hyperthyroidism 10.0
41 bap1 tumor predisposition syndrome 10.0
42 aortic arch interruption 10.0
43 bamforth syndrome 10.0
44 hypoadrenalism 10.0
45 right aortic arch 10.0

Graphical network of the top 20 diseases related to Breasts and/or Nipples, Aplasia or Hypoplasia of, 1:



Diseases related to Breasts and/or Nipples, Aplasia or Hypoplasia of, 1

Symptoms & Phenotypes for Breasts and/or Nipples, Aplasia or Hypoplasia of, 1

Human phenotypes related to Breasts and/or Nipples, Aplasia or Hypoplasia of, 1:

31
# Description HPO Frequency HPO Source Accession
1 choanal atresia 31 occasional (7.5%) HP:0000453
2 hypoplastic areola 31 very rare (1%) HP:0100853
3 aplasia/hypoplasia of the nipples 31 HP:0006709
4 aplasia/hypoplasia of the breasts 31 HP:0010311
5 absent nipple 31 HP:0002561

Symptoms via clinical synopsis from OMIM:

56
Chest Breasts:
amastia
nipple hypoplasia or aplasia (athelia, in some patients)
hypoplastic areolae (in some patients)
absent breast tissue (amazia, in some patients)

Head And Neck Nose:
choanal atresia (in some patients)

Clinical features from OMIM:

113700

Drugs & Therapeutics for Breasts and/or Nipples, Aplasia or Hypoplasia of, 1

Search Clinical Trials , NIH Clinical Center for Breasts and/or Nipples, Aplasia or Hypoplasia of, 1

Genetic Tests for Breasts and/or Nipples, Aplasia or Hypoplasia of, 1

Anatomical Context for Breasts and/or Nipples, Aplasia or Hypoplasia of, 1

MalaCards organs/tissues related to Breasts and/or Nipples, Aplasia or Hypoplasia of, 1:

40
Breast, Thyroid, Heart

Publications for Breasts and/or Nipples, Aplasia or Hypoplasia of, 1

Articles related to Breasts and/or Nipples, Aplasia or Hypoplasia of, 1:

(show top 50) (show all 79)
# Title Authors PMID Year
1
Choanal atresia and athelia: methimazole teratogenicity or a new syndrome? 61 56
3688031 1987
2
Congenital bilateral amazia associated with bilateral choanal atresia. 56
19533792 2009
3
Dominant inheritance of absence of the breast. 56
5082094 1972
4
Complete breast absence. Case report and review of the literature. 56
5319112 1965
5
Mother and daughter with bilateral congenital amastia. 56
13706498 1961
6
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome. 61
31949313 2020
7
Antagonistic and plant-growth promoting novel Bacillus species from long-term organic farming soils from Sikkim, India. 61
31696021 2019
8
Poland Syndrome with Amastia-athelia. 61
31512674 2019
9
Inhibitory effect of Athelia rolfsii exopolysaccharides on organ damage in lead-exposed Kunming strain mice. 61
30724941 2019
10
Left-sided Poland's syndrome associated with dextrocardia. 61
31297489 2019
11
Rapid Microbial Community Changes During Initial Stages of Pine Litter Decomposition. 61
29850933 2019
12
Incidence, Distribution, and Pathogenicity of Fungi Causing Root Rot in Idaho Long-Term Sugar Beet Storage Piles. 61
30169137 2018
13
Athelia (Sclerotium) rolfsii in Allium sativum: potential biocontrol agents and their effects on plant metabolites. 61
30427392 2018
14
Biopolymer from marine Athelia and its application on heavy oil recovery in heterogeneous reservoir. 61
29805008 2018
15
Preparation, characterization and bioactivities of Athelia rolfsii exopolysaccharide-zinc complex (AEPS-zinc). 61
29454944 2018
16
Effect of Headspace and Trapped Volatile Organic Compounds (VOCs) of the Chinese Caterpillar Mushroom, Ophiocordyceps sinensis (Ascomycetes), against Soil-Borne Plant Pathogens. 61
30317977 2018
17
Soil fungal biodiversity and pathogen identification of rotten disease in Aconitum carmichaelii (Fuzi) roots. 61
30379951 2018
18
Phylogenetic Placement and Morphological Characterization of Sclerotium rolfsii (Teleomorph: Athelia rolfsii) Associated with Blight Disease of Ipomoea batatas in Korea. 61
29138617 2017
19
3-Oxo-γ-costic acid fungal-transformation generates eudesmane sesquiterpenes with in vitro tumor-inhibitory activity. 61
28676273 2017
20
Draft whole genome sequence of groundnut stem rot fungus Athelia rolfsii revealing genetic architect of its pathogenicity and virulence. 61
28706242 2017
21
Host Infection beyond the Traditional Range of Sclerotium (Athelia) rolfsii with Physalis minima. 61
29162965 2017
22
Proposal of the TBN Classification of Thoracic Anomalies and Treatment Algorithm for Poland Syndrome. 61
27348639 2016
23
Bioactive Secondary Metabolites Produced by the Oak Pathogen Diplodia corticola. 61
26671545 2016
24
Influence of Harvest Timing, Fungicides, and Beet necrotic yellow vein virus on Sugar Beet Storage. 61
30690991 2015
25
Autologous reconstruction of a complex form of Poland syndrome using 2 abdominal perforator free flaps. 61
24322640 2015
26
Genetic analysis of plant endophytic Pseudomonas putida BP25 and chemo-profiling of its antimicrobial volatile organic compounds. 61
25801973 2015
27
Antagonistic mechanisms of endophytic Pseudomonas fluorescens against Athelia rolfsii. 61
24962812 2014
28
Homozygous truncating PTPRF mutation causes athelia. 61
24781087 2014
29
First Report of Sclerotium rolfsii in Greater Plantain in Paraná, Brazil. 61
30708680 2014
30
Congenital anomalies of the breast. 61
24872738 2013
31
First Report of Southern Blight of Mexican Petunia (Ruellia brittoniana) Caused by Sclerotium rolfsii in Taiwan. 61
30727267 2012
32
First Report of Southern Blight of Iresine herbstii Caused by Sclerotium rolfsii in Taiwan. 61
30727473 2012
33
Characterization of a Basidiomycete fungus from stored sugar beet roots. 61
22067302 2012
34
First Report of Root Rot Caused by Sclerotium rolfsii on Daucus carota var. sativa in Southern Korea. 61
30732003 2011
35
Choanal atresia associated with tracheoesophageal fistula: the spectrum of carbimazole embryopathy. 61
21807695 2011
36
Species composition of saproxylic fungal communities on decaying logs in the boreal forest. 61
21246195 2011
37
Grade 1 microtia, wide anterior fontanel and novel type tracheo-esophageal fistula in methimazole embryopathy. 61
21344626 2011
38
Simulated atmospheric N deposition alters fungal community composition and suppresses ligninolytic gene expression in a northern hardwood forest. 61
21701691 2011
39
Stem Rot of Branched Broomrape (Orobanche ramosa) Caused by Sclerotium rolfsii in Chile. 61
30743597 2010
40
Phylogenetic placement of plant pathogenic Sclerotium species among teleomorph genera. 61
20361501 2010
41
First Report of Southern Blight of Pepper Caused by Sclerotium rolfsii in Southern Spain. 61
30754296 2010
42
First Report of Southern Blight on Silverbush (Convolvulus cneorum) Caused by Sclerotium rolfsii in Italy. 61
30754428 2010
43
Effect of continuous olive mill wastewater applications, in the presence and absence of nitrogen fertilization, on the structure of rhizosphere-soil fungal communities. 61
19799632 2009
44
High concentration of basidiolichens in a single family of agaricoid mushrooms (Basidiomycota: Agaricales: Hygrophoraceae). 61
19646529 2009
45
[Amastia and athelia as an exceptional presentation of hypohydrotic ectodermal dysplasia in an adolescent female]. 61
18775284 2008
46
Control and possible applications of a novel carrot-spoilage basidiomycete, Fibulorhizoctonia psychrophila. 61
18183497 2008
47
Three novel mutations in the PORCN gene underlying focal dermal hypoplasia. 61
18325042 2008
48
First Report of Southern Blight on Bottle Gourd (Lagenaria siceraria) Caused by Sclerotium rolfsii in South Carolina. 61
30769655 2008
49
Somatic variation in living, wild ring-tailed lemurs (Lemur catta). 61
17878733 2008
50
First Report of Southern Blight on Firewheel Tree, Bay Laurel, Bird of Paradise, Mediterranean Fan Palm, and Liverwort Caused by Sclerotium rolfsii in Italy. 61
30780640 2007

Variations for Breasts and/or Nipples, Aplasia or Hypoplasia of, 1

Expression for Breasts and/or Nipples, Aplasia or Hypoplasia of, 1

Search GEO for disease gene expression data for Breasts and/or Nipples, Aplasia or Hypoplasia of, 1.

Pathways for Breasts and/or Nipples, Aplasia or Hypoplasia of, 1

GO Terms for Breasts and/or Nipples, Aplasia or Hypoplasia of, 1

Sources for Breasts and/or Nipples, Aplasia or Hypoplasia of, 1

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
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39 LOVD
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43 MeSH
44 MESH via Orphanet
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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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