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

Sources

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:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 117800

MedGen ⁴³ C1861696

SNOMED-CT via HPO ⁷⁰ 254838004 263681008 275259005

UMLS ⁷⁴ C1861696

Sources

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

Sources

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
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:

Sources

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

Sources

Drugs & Therapeutics for Apocrine Gland Secretion, Variation in

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

Sources

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

Sources

Anatomical Context for Apocrine Gland Secretion, Variation in

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

⁴²

Breast, Lung, Thyroid, T Cells

Sources

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 )	Martin A...Natsch A	2010
2	A SNP in the ABCC11 gene is the determinant of human earwax type. ( 16444273 )	Yoshiura K...Niikawa N	2006

Sources

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	668.51	Molecular basis known ⁵⁸ Genetic Tests ³⁰ Typically genetic variations that lead to apparently abnormal laboratory test values ⁵⁸ GeneCards inferred via : Variants (show sections)

Sources

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

Sources

Expression for Apocrine Gland Secretion, Variation in

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

Sources

Pathways for Apocrine Gland Secretion, Variation in

Sources

GO Terms for Apocrine Gland Secretion, Variation in

Sources

Sources for Apocrine Gland Secretion, Variation in

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia