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MCID: APC009
MIFTS: 26

Apocrine Gland Secretion, Variation in (WW)

Categories: Ear diseases, Endocrine diseases, Genetic diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes
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Aliases & Classifications for Apocrine Gland Secretion, Variation in

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MalaCards integrated aliases for Apocrine Gland Secretion, Variation in:

Name: Apocrine Gland Secretion, Variation in 56 29 6
Ear Wax, Wet/dry 56 71
Secretion, Gland, Apocrine, Variation in 39
Colostrum Secretion, Variation in 56
Axillary Odor, Variation in 56
Ear Wax, Wet/dry; Ewwd 56
Cerumen, Variation in 56
Earwax, Wet/dry 56
Wet Wax; Ww 56
Wet Wax 56
Ewwd 56
Ww 56

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

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


Classifications:

MalaCards categories:
Global: Genetic diseases
Anatomical: Ear diseases Endocrine diseases
See all MalaCards categories (disease lists)


External Ids:

OMIM 56 117800
MedGen 41 C1861696
SNOMED-CT via HPO 68 254838004 263681008 275259005
UMLS 71 C1861696
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Summaries for Apocrine Gland Secretion, Variation in

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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, thyroid and heart, and related phenotypes are breast carcinoma and abnormality of the ear

More information from OMIM: 117800
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Related Diseases for Apocrine Gland Secretion, Variation in

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

(show top 50) (show all 106)
# 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 wieacker-wolff 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 breast cancer 10.3
22 huntington disease 10.3
23 glioma 10.2
24 glial tumor 10.2
25 muscular dystrophy, congenital, lmna-related 10.1
26 helix syndrome 10.1
27 hepatocellular carcinoma 10.1
28 fibrosis of extraocular muscles, congenital, 1 10.1
29 liddle syndrome 1 10.1
30 small cell cancer of the lung 10.1
31 thyroid cancer, nonmedullary, 1 10.1
32 lung cancer 10.1
33 muscular dystrophy-dystroglycanopathy , type a, 4 10.1
34 renpenning syndrome 1 10.1
35 muscular dystrophy, duchenne type 10.1
36 rett syndrome 10.1
37 lissencephaly 10.1
38 autosomal recessive disease 10.1
39 rabies 10.1
40 thyroid gland papillary carcinoma 10.1
41 infertility 10.1
42 hypoglycemia 10.1
43 cobblestone lissencephaly 10.1
44 overgrowth syndrome 10.1
45 thyroid carcinoma 10.1
46 alzheimer disease 9.9
47 colorectal cancer 9.9
48 dentatorubral-pallidoluysian atrophy 9.9
49 multiple endocrine neoplasia, type i 9.9
50 erythroleukemia, familial 9.9

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



Diseases related to Apocrine Gland Secretion, Variation in
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Symptoms & Phenotypes for Apocrine Gland Secretion, Variation in

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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:

56
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
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Drugs & Therapeutics for Apocrine Gland Secretion, Variation in

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

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Genetic Tests for Apocrine Gland Secretion, Variation in

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Genetic tests related to Apocrine Gland Secretion, Variation in:

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

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

40
Breast, Thyroid, Heart, Lung, T Cells, Brain, Spinal Cord
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Publications for Apocrine Gland Secretion, Variation in

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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. 56 6
19710689 2010
2
A SNP in the ABCC11 gene is the determinant of human earwax type. 56 6
16444273 2006
3
Allele frequencies of the ABCC11 gene for earwax phenotypes among ancient populations of Hokkaido, Japan. 56
19557017 2009
4
A strong association between human earwax-type and apocrine colostrum secretion from the mammary gland. 56
17394018 2007
5
Mapping of the wet/dry earwax locus to the pericentromeric region of chromosome 16. 56
12076558 2002
6
Cerumen phenotypes in certain populations of Eurasia and Africa. 56
2021195 1991
7
Evidence against association between wet cerumen and breast cancer. 56
4118561 1973
8
Cerumen genetics and human breast cancer. 56
5559907 1971
9
Cerumen types in Choctaw Indians. 56
5762929 1969
10
Cerumen in American Indians: genetic implications of sticky and dry types. 56
6075316 1967
11
The comparison of free and bound amino acids between dry and wet types of cerumen. 56
6055546 1967
12
The comparison of lipids between dry and wet types of cerumen. 56
6055547 1967
13
The dimorphism in human normal cerumen. 56
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
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Variations for Apocrine Gland Secretion, Variation in

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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
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Expression for Apocrine Gland Secretion, Variation in

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

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GO Terms for Apocrine Gland Secretion, Variation in

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Sources for Apocrine Gland Secretion, Variation in

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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