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 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:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 117800

MedGen ⁴² C1861696

SNOMED-CT via HPO ⁶⁹ 263681008 275259005 254838004

UMLS ⁷³ 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, lung and thyroid, and related phenotypes are breast carcinoma and abnormality of the ear

Description 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 all 45)

#	Related Disease	Score
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:

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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

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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, Lung, Thyroid, T Cells

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Publications for Apocrine Gland Secretion, Variation in

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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	668.5	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	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

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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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Sources for Apocrine Gland Secretion, Variation in

¹ BioSystems

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⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

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⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

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⁶⁵ R&D Systems

⁶⁶ Reactome

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⁶⁸ SNOMED-CT

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⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ 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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Apocrine Gland Secretion, Variation in:

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

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