MCID: APC009
MIFTS: 25

Apocrine Gland Secretion, Variation in

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 58 30 6
Ear Wax, Wet/dry 58 74
Secretion, Gland, Apocrine, Variation in 41
Colostrum Secretion, Variation in 58
Axillary Odor, Variation in 58
Ear Wax, Wet/dry; Ewwd 58
Cerumen, Variation in 58
Earwax, Wet/dry 58
Wet Wax; Ww 58
Wet Wax 58
Ewwd 58
Ww 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
apocrine gland secretion, variation in:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 117800
MedGen 43 C1861696
SNOMED-CT via HPO 70 254838004 263681008 275259005
UMLS 74 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, lung and thyroid, and related phenotypes are breast carcinoma and abnormality of the ear

Description 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 56)
# Related Disease Score Top Affiliating Genes
1 walker-warburg syndrome 12.0
2 muscular dystrophy-dystroglycanopathy , type a, 1 11.7
3 muscular dystrophy-dystroglycanopathy , type c, 1 11.3
4 intellectual disability-developmental delay-contractures syndrome 11.1
5 muscular dystrophy-dystroglycanopathy , type a, 3 11.0
6 muscular dystrophy-dystroglycanopathy , type a, 2 11.0
7 muscular dystrophy-dystroglycanopathy , type a, 5 11.0
8 muscular dystrophy-dystroglycanopathy , type a, 6 11.0
9 muscular dystrophy-dystroglycanopathy , type b, 1 11.0
10 muscular dystrophy-dystroglycanopathy , type a, 7 11.0
11 muscular dystrophy-dystroglycanopathy , type a, 8 11.0
12 muscular dystrophy-dystroglycanopathy , type a, 10 11.0
13 muscular dystrophy-dystroglycanopathy , type a, 11 11.0
14 muscular dystrophy-dystroglycanopathy , type a, 12 11.0
15 muscular dystrophy-dystroglycanopathy , type a, 13 11.0
16 muscular dystrophy-dystroglycanopathy , type a, 9 11.0
17 breast cancer 10.2
18 renal oncocytoma 10.2
19 glioma 10.2
20 leukemia 10.1
21 hepatocellular carcinoma 10.0
22 small cell cancer of the lung 10.0
23 lung cancer 10.0
24 renpenning syndrome 1 10.0
25 alzheimer disease 9.9
26 blood group, colton system 9.9
27 dentatorubral-pallidoluysian atrophy 9.9
28 holt-oram syndrome 9.9
29 myeloma, multiple 9.9
30 pancreatic cancer 9.9
31 rett syndrome 9.9
32 cervical cancer 9.9
33 vitiligo-associated multiple autoimmune disease susceptibility 1 9.9
34 leukemia, acute lymphoblastic 9.9
35 gastric cancer 9.9
36 cholangiocarcinoma 9.9
37 spermatogenic failure 17 9.9
38 acute lymphocytic leukemia 9.9
39 atrial fibrillation 9.9
40 autosomal recessive limb-girdle muscular dystrophy 9.9
41 lymphocytic leukemia 9.9
42 sarcoma 9.9
43 rabies 9.9
44 squamous cell carcinoma 9.9
45 thyroid cancer 9.9
46 infertility 9.9
47 acute t cell leukemia 9.9
48 monoclonal gammopathy of uncertain significance 9.9
49 stomatitis 9.9
50 muscular dystrophy 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:

33
# Description HPO Frequency HPO Source Accession
1 breast carcinoma 33 HP:0003002
2 abnormality of the ear 33 HP:0000598

Symptoms via clinical synopsis from OMIM:

58
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 30 ABCC11

Anatomical Context for Apocrine Gland Secretion, Variation in

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

42
Breast, Lung, Thyroid, T Cells

Publications for Apocrine Gland Secretion, Variation in

Articles related to Apocrine Gland Secretion, Variation in:

# Title Authors Year
1
A functional ABCC11 allele is essential in the biochemical formation of human axillary odor. ( 19710689 )
2010
2
A SNP in the ABCC11 gene is the determinant of human earwax type. ( 16444273 )
2006

Variations for Apocrine Gland Secretion, Variation in

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 ABCC11 NM_032583.3(ABCC11): c.3939_3965del27 (p.Asp1313_Arg1321del) deletion Affects rs387906296 GRCh38 Chromosome 16, 48167587: 48167613
2 ABCC11 NM_032583.3(ABCC11): c.3939_3965del27 (p.Asp1313_Arg1321del) deletion Affects rs387906296 GRCh37 Chromosome 16, 48201498: 48201524
3 ABCC11 NM_032583.3(ABCC11): c.538G> A (p.Gly180Arg) single nucleotide variant Benign rs17822931 GRCh38 Chromosome 16, 48224287: 48224287
4 ABCC11 NM_032583.3(ABCC11): c.538G> A (p.Gly180Arg) single nucleotide variant Benign rs17822931 GRCh37 Chromosome 16, 48258198: 48258198

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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