Apocrine Gland Secretion, Variation in disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Ear diseases Endocrine diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 117800

MedGen ⁴² C1861696

UMLS ⁷² C1861696

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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

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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
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:

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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

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Drugs & Therapeutics for Apocrine Gland Secretion, Variation in

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

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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

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Anatomical Context for Apocrine Gland Secretion, Variation in

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

⁴¹

Breast

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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	Martin A...Natsch A	19710689	2010
2	A SNP in the ABCC11 gene is the determinant of human earwax type. ⁸ ⁷¹	Yoshiura K...Niikawa N	16444273	2006
3	Allele frequencies of the ABCC11 gene for earwax phenotypes among ancient populations of Hokkaido, Japan. ⁸	Sato T...Masuda R	19557017	2009
4	A strong association between human earwax-type and apocrine colostrum secretion from the mammary gland. ⁸	Miura K...Masuzaki H	17394018	2007
5	Mapping of the wet/dry earwax locus to the pericentromeric region of chromosome 16. ⁸	Tomita H...Niikawa N	12076558	2002
6	Cerumen phenotypes in certain populations of Eurasia and Africa. ⁸	Ibraimov AI	2021195	1991
7	Evidence against association between wet cerumen and breast cancer. ⁸	Ing R...Ho HC	4118561	1973
8	Cerumen genetics and human breast cancer. ⁸	Petrakis NL	5559907	1971
9	Cerumen types in Choctaw Indians. ⁸	Martin LM...Jackson JF	5762929	1969
10	Cerumen in American Indians: genetic implications of sticky and dry types. ⁸	Petrakis NL...Tepper DJ	6075316	1967
11	The comparison of free and bound amino acids between dry and wet types of cerumen. ⁸	Kataura A...Kataura K	6055546	1967
12	The comparison of lipids between dry and wet types of cerumen. ⁸	Kataura A...Kataura K	6055547	1967
13	The dimorphism in human normal cerumen. ⁸	MATSUNAGA E	14471313	1962
14	Is Pityrosporum ovale a pathogen of the external auditory meatus? ³⁸	Stenfors LE...Raisanen S	1759582	1991
15	Waxed windshields are hazardous in the rain. ³⁸	Allen MJ...Bennett DW	1078358	1975

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Genes for Apocrine Gland Secretion, Variation in

Genes related to Apocrine Gland Secretion, Variation in (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ABCC11	ATP Binding Cassette Subfamily C Member 11	Protein Coding	668.47	Molecular basis known ⁵⁷ Genetic Tests ²⁹ Typically genetic variations that lead to apparently abnormal laboratory test values ⁵⁷ GeneCards inferred via : Variants (show sections)

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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

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Expression for Apocrine Gland Secretion, Variation in

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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⁷¹ Tocris

⁷² UMLS

⁷³ UMLS via Orphanet

⁷⁴ UniProtKB/Swiss-Prot

⁷⁵ Wikipedia

Apocrine Gland Secretion, Variation in (WW)

Aliases & Classifications for Apocrine Gland Secretion, Variation in

MalaCards integrated aliases for Apocrine Gland Secretion, Variation in:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Apocrine Gland Secretion, Variation in

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:

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Apocrine Gland Secretion, Variation in

Genetic Tests for Apocrine Gland Secretion, Variation in

Genetic tests related to Apocrine Gland Secretion, Variation in:

Anatomical Context for Apocrine Gland Secretion, Variation in

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

Publications for Apocrine Gland Secretion, Variation in

Articles related to Apocrine Gland Secretion, Variation in:

Genes for Apocrine Gland Secretion, Variation in

Genes related to Apocrine Gland Secretion, Variation in (1 elite genes):

Variations for Apocrine Gland Secretion, Variation in

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

Expression 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