WW
MCID: APC009
MIFTS: 19

Apocrine Gland Secretion, Variation in (WW)

Categories: Ear diseases, Endocrine diseases, Genetic diseases

Aliases & Classifications for Apocrine Gland Secretion, Variation in

MalaCards integrated aliases for Apocrine Gland Secretion, Variation in:

Name: Apocrine Gland Secretion, Variation in 57 29 6
Ear Wax, Wet/dry 57 71
Secretion, Gland, Apocrine, Variation in 39
Colostrum Secretion, Variation in 57
Axillary Odor, Variation in 57
Ear Wax, Wet/dry; Ewwd 57
Cerumen, Variation in 57
Earwax, Wet/dry 57
Wet Wax; Ww 57
Wet Wax 57
Ewwd 57
Ww 57

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
apocrine gland secretion, variation in:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 117800
MedGen 41 C1861696
SNOMED-CT via HPO 68 254838004 263681008 275259005
UMLS 71 C1861696

Summaries for Apocrine Gland Secretion, Variation in

MalaCards based summary : Apocrine Gland Secretion, Variation in, is also known as ear wax, wet/dry. An important gene associated with Apocrine Gland Secretion, Variation in is ABCC11 (ATP Binding Cassette Subfamily C Member 11). Affiliated tissues include breast, and related phenotypes are breast carcinoma and abnormality of the ear

More information from OMIM: 117800

Related Diseases for Apocrine Gland Secretion, Variation in

Symptoms & Phenotypes for Apocrine Gland Secretion, Variation in

Human phenotypes related to Apocrine Gland Secretion, Variation in:

31
# Description HPO Frequency HPO Source Accession
1 breast carcinoma 31 HP:0003002
2 abnormality of the ear 31 HP:0000598

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Ears:
ear wax types (wet and dry)

Misc:
axillary odor association

Oncology:
positive correlation between wet ear wax and breast cancer

Clinical features from OMIM®:

117800 (Updated 05-Mar-2021)

Drugs & Therapeutics for Apocrine Gland Secretion, Variation in

Search Clinical Trials , NIH Clinical Center for Apocrine Gland Secretion, Variation in

Genetic Tests for Apocrine Gland Secretion, Variation in

Genetic tests related to Apocrine Gland Secretion, Variation in:

# Genetic test Affiliating Genes
1 Apocrine Gland Secretion, Variation in 29 ABCC11

Anatomical Context for Apocrine Gland Secretion, Variation in

MalaCards organs/tissues related to Apocrine Gland Secretion, Variation in:

40
Breast

Publications for Apocrine Gland Secretion, Variation in

Articles related to Apocrine Gland Secretion, Variation in:

(show all 15)
# Title Authors PMID Year
1
A SNP in the ABCC11 gene is the determinant of human earwax type. 6 57
16444273 2006
2
A functional ABCC11 allele is essential in the biochemical formation of human axillary odor. 57
19710689 2010
3
Allele frequencies of the ABCC11 gene for earwax phenotypes among ancient populations of Hokkaido, Japan. 57
19557017 2009
4
A strong association between human earwax-type and apocrine colostrum secretion from the mammary gland. 57
17394018 2007
5
Mapping of the wet/dry earwax locus to the pericentromeric region of chromosome 16. 57
12076558 2002
6
Cerumen phenotypes in certain populations of Eurasia and Africa. 57
2021195 1991
7
Evidence against association between wet cerumen and breast cancer. 57
4118561 1973
8
Cerumen genetics and human breast cancer. 57
5559907 1971
9
Cerumen types in Choctaw Indians. 57
5762929 1969
10
Cerumen in American Indians: genetic implications of sticky and dry types. 57
6075316 1967
11
The comparison of free and bound amino acids between dry and wet types of cerumen. 57
6055546 1967
12
The comparison of lipids between dry and wet types of cerumen. 57
6055547 1967
13
The dimorphism in human normal cerumen. 57
14471313 1962
14
Is Pityrosporum ovale a pathogen of the external auditory meatus? 61
1759582 1991
15
Waxed windshields are hazardous in the rain. 61
1078358 1975

Variations for Apocrine Gland Secretion, Variation in

ClinVar genetic disease variations for Apocrine Gland Secretion, Variation in:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ABCC11 NM_032583.4(ABCC11):c.3939_3965del (p.Asp1313_Arg1321del) Deletion Affects 3559 rs387906296 16:48201498-48201524 16:48167587-48167613
2 ABCC11 NM_032583.4(ABCC11):c.538G>A (p.Gly180Arg) SNV Benign 3558 rs17822931 16:48258198-48258198 16:48224287-48224287

Expression for Apocrine Gland Secretion, Variation in

Search GEO for disease gene expression data for Apocrine Gland Secretion, Variation in.

Pathways for Apocrine Gland Secretion, Variation in

GO Terms for Apocrine Gland Secretion, Variation in

Sources for Apocrine Gland Secretion, Variation in

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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