WW
MCID: APC009
MIFTS: 24

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 72
Secretion, Gland, Apocrine, Variation in 40
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
Inheritance:
autosomal dominant


HPO:

32
apocrine gland secretion, variation in:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 117800
MedGen 42 C1861696
UMLS 72 C1861696

Summaries for Apocrine Gland Secretion, Variation in

MalaCards based summary : Apocrine Gland Secretion, Variation in, also known as ear wax, wet/dry, is related to walker-warburg syndrome and muscular dystrophy-dystroglycanopathy , type a, 1. 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

Diseases related to Apocrine Gland Secretion, Variation in via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 105)
# Related Disease Score Top Affiliating Genes
1 walker-warburg syndrome 12.2
2 muscular dystrophy-dystroglycanopathy , type a, 1 11.8
3 muscular dystrophy-dystroglycanopathy , type c, 1 11.4
4 muscular dystrophy-dystroglycanopathy , type b, 1 11.4
5 intellectual disability-developmental delay-contractures syndrome 11.2
6 muscular dystrophy-dystroglycanopathy , type a, 3 11.1
7 muscular dystrophy-dystroglycanopathy , type a, 2 11.1
8 muscular dystrophy-dystroglycanopathy , type a, 5 11.1
9 muscular dystrophy-dystroglycanopathy , type a, 6 11.1
10 muscular dystrophy-dystroglycanopathy , type a, 7 11.1
11 muscular dystrophy-dystroglycanopathy , type a, 8 11.1
12 muscular dystrophy-dystroglycanopathy , type a, 10 11.1
13 muscular dystrophy-dystroglycanopathy , type a, 11 11.1
14 muscular dystrophy-dystroglycanopathy , type a, 12 11.1
15 muscular dystrophy-dystroglycanopathy , type a, 13 11.1
16 muscular dystrophy-dystroglycanopathy , type a, 9 11.1
17 rapidly involuting congenital hemangioma 10.5
18 muscular dystrophy 10.4
19 renal oncocytoma 10.3
20 glioblastoma multiforme 10.3
21 glioblastoma 10.3
22 breast cancer 10.3
23 huntington disease 10.3
24 glioma 10.2
25 glial tumor 10.2
26 muscular dystrophy, congenital, lmna-related 10.1
27 helix syndrome 10.1
28 hepatocellular carcinoma 10.1
29 liddle syndrome 1 10.1
30 small cell cancer of the lung 10.1
31 lung cancer 10.1
32 muscular dystrophy-dystroglycanopathy , type a, 4 10.1
33 renpenning syndrome 1 10.1
34 muscular dystrophy, duchenne type 10.1
35 rett syndrome 10.1
36 lissencephaly 10.1
37 autosomal recessive disease 10.1
38 infertility 10.1
39 hypoglycemia 10.1
40 cobblestone lissencephaly 10.1
41 overgrowth syndrome 10.1
42 alzheimer disease 9.9
43 colorectal cancer 9.9
44 dentatorubral-pallidoluysian atrophy 9.9
45 multiple endocrine neoplasia, type i 9.9
46 erythroleukemia, familial 9.9
47 fibrosis of extraocular muscles, congenital, 1 9.9
48 holt-oram syndrome 9.9
49 neurofibromatosis, type iv, of riccardi 9.9
50 ovarian cancer 9.9

Graphical network of the top 20 diseases related to Apocrine Gland Secretion, Variation in:



Diseases related to Apocrine Gland Secretion, Variation in

Symptoms & Phenotypes for Apocrine Gland Secretion, Variation in

Human phenotypes related to Apocrine Gland Secretion, Variation in:

32
# Description HPO Frequency HPO Source Accession
1 breast carcinoma 32 HP:0003002
2 abnormality of the ear 32 HP:0000598

Symptoms via clinical synopsis from OMIM:

57
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

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:

41
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 functional ABCC11 allele is essential in the biochemical formation of human axillary odor. 8 71
19710689 2010
2
A SNP in the ABCC11 gene is the determinant of human earwax type. 8 71
16444273 2006
3
Allele frequencies of the ABCC11 gene for earwax phenotypes among ancient populations of Hokkaido, Japan. 8
19557017 2009
4
A strong association between human earwax-type and apocrine colostrum secretion from the mammary gland. 8
17394018 2007
5
Mapping of the wet/dry earwax locus to the pericentromeric region of chromosome 16. 8
12076558 2002
6
Cerumen phenotypes in certain populations of Eurasia and Africa. 8
2021195 1991
7
Evidence against association between wet cerumen and breast cancer. 8
4118561 1973
8
Cerumen genetics and human breast cancer. 8
5559907 1971
9
Cerumen types in Choctaw Indians. 8
5762929 1969
10
Cerumen in American Indians: genetic implications of sticky and dry types. 8
6075316 1967
11
The comparison of free and bound amino acids between dry and wet types of cerumen. 8
6055546 1967
12
The comparison of lipids between dry and wet types of cerumen. 8
6055547 1967
13
The dimorphism in human normal cerumen. 8
14471313 1962
14
Is Pityrosporum ovale a pathogen of the external auditory meatus? 38
1759582 1991
15
Waxed windshields are hazardous in the rain. 38
1078358 1975

Variations for Apocrine Gland Secretion, Variation in

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ABCC11 NM_032583.4(ABCC11): c.3939_3965del (p.Asp1313_Arg1321del) deletion Affects rs387906296 16:48201498-48201524 16:48167587-48167613
2 ABCC11 NM_032583.4(ABCC11): c.538G> A (p.Gly180Arg) single nucleotide variant Benign 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
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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....