WW
MCID: APC009
MIFTS: 23

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 73
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
SNOMED-CT via HPO 69 263681008 275259005 254838004
UMLS 73 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 all 45)
# Related Disease Score Top Affiliating Genes
1 walker-warburg syndrome 11.9
2 muscular dystrophy-dystroglycanopathy , type a, 1 11.6
3 intellectual disability-developmental delay-contractures syndrome 11.1
4 muscular dystrophy-dystroglycanopathy , type a, 3 10.9
5 muscular dystrophy-dystroglycanopathy , type c, 1 10.9
6 muscular dystrophy-dystroglycanopathy , type a, 2 10.9
7 muscular dystrophy-dystroglycanopathy , type a, 5 10.9
8 muscular dystrophy-dystroglycanopathy , type a, 6 10.9
9 muscular dystrophy-dystroglycanopathy , type b, 1 10.9
10 muscular dystrophy-dystroglycanopathy , type a, 7 10.9
11 muscular dystrophy-dystroglycanopathy , type a, 8 10.9
12 muscular dystrophy-dystroglycanopathy , type a, 10 10.9
13 muscular dystrophy-dystroglycanopathy , type a, 11 10.9
14 muscular dystrophy-dystroglycanopathy , type a, 12 10.9
15 muscular dystrophy-dystroglycanopathy , type a, 13 10.9
16 muscular dystrophy-dystroglycanopathy , type a, 9 10.9
17 renal oncocytoma 10.1
18 glioma 10.1
19 hepatocellular carcinoma 10.0
20 small cell cancer of the lung 10.0
21 lung cancer 10.0
22 leukemia 10.0
23 alzheimer disease 9.9
24 holt-oram syndrome 9.9
25 myeloma, multiple 9.9
26 rett syndrome 9.9
27 cervical cancer 9.9
28 body mass index quantitative trait locus 1 9.9
29 leukemia, acute lymphoblastic 9.9
30 gastric cancer 9.9
31 cholangiocarcinoma 9.9
32 atrial fibrillation 9.9
33 autosomal recessive limb-girdle muscular dystrophy 9.9
34 lymphocytic leukemia 9.9
35 sarcoma 9.9
36 disease of mental health 9.9
37 thyroid cancer 9.9
38 infertility 9.9
39 acute t cell leukemia 9.9
40 monoclonal gammopathy of uncertain significance 9.9
41 muscular dystrophy 9.9
42 glioblastoma 9.9
43 limb-girdle muscular dystrophy 9.9
44 oral cancer 9.9
45 hypoxia 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

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

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

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, Lung, Thyroid, T Cells

Publications for Apocrine Gland Secretion, Variation in

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.538G> A (p.Gly180Arg) single nucleotide variant Benign rs17822931 GRCh37 Chromosome 16, 48258198: 48258198
2 ABCC11 NM_032583.3(ABCC11): c.538G> A (p.Gly180Arg) single nucleotide variant Benign rs17822931 GRCh38 Chromosome 16, 48224287: 48224287
3 ABCC11 NM_032583.3(ABCC11): c.3939_3965del27 (p.Asp1313_Arg1321del) deletion Affects rs387906296 GRCh37 Chromosome 16, 48201498: 48201524
4 ABCC11 NM_032583.3(ABCC11): c.3939_3965del27 (p.Asp1313_Arg1321del) deletion Affects rs387906296 GRCh38 Chromosome 16, 48167587: 48167613

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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