MCID: LCT003
MIFTS: 29

Lactocele

Categories: Rare diseases, Cancer diseases

Aliases & Classifications for Lactocele

MalaCards integrated aliases for Lactocele:

Name: Lactocele 12 53 15
Galactocele 12 53 44
Galactocoele 53
Lacteal Cyst 53

Classifications:



External Ids:

Disease Ontology 12 DOID:10686
ICD10 33 N64.89
ICD9CM 35 611.5
MeSH 44 C535998
NCIt 50 C3515
UMLS 73 C0152243

Summaries for Lactocele

MalaCards based summary : Lactocele, also known as galactocele, is related to jak3-deficient severe combined immunodeficiency and sex differentiation disease. An important gene associated with Lactocele is MT-ND2 (Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 2), and among its related pathways/superpathways are Cytokine Signaling in Immune system and PI3K-Akt signaling pathway. Related phenotypes are Decreased viability in HMC1.1 cells and immune system

Wikipedia : 76 A galactocele (also: lacteal cyst or milk cyst) is a retention cyst containing milk or a milky substance... more...

Related Diseases for Lactocele

Graphical network of the top 20 diseases related to Lactocele:



Diseases related to Lactocele

Symptoms & Phenotypes for Lactocele

GenomeRNAi Phenotypes related to Lactocele according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in HMC1.1 cells GR00105-A-0 8.62 JAK1 JAK3

MGI Mouse Phenotypes related to Lactocele:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.23 CD68 JAK1 JAK2 JAK3 LHCGR MT-ND2

Drugs & Therapeutics for Lactocele

Search Clinical Trials , NIH Clinical Center for Lactocele

Cochrane evidence based reviews: galactocele

Genetic Tests for Lactocele

Anatomical Context for Lactocele

Publications for Lactocele

Variations for Lactocele

Expression for Lactocele

Search GEO for disease gene expression data for Lactocele.

Pathways for Lactocele

Pathways related to Lactocele according to GeneCards Suite gene sharing:

(show all 35)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.11 JAK1 JAK2 JAK3 PRL TRIM21
2
Show member pathways
12.73 JAK1 JAK2 JAK3 PRL
3
Show member pathways
12.5 JAK1 JAK2 JAK3 PRL
4
Show member pathways
12.33 JAK1 JAK2 TRIM21
5
Show member pathways
12.24 JAK1 JAK2 JAK3
6
Show member pathways
12.24 JAK1 JAK2 JAK3
7
Show member pathways
12.22 JAK1 JAK2 JAK3 PRL
8
Show member pathways
12.18 JAK1 JAK2 JAK3
9
Show member pathways
12.04 JAK1 JAK2 JAK3
10
Show member pathways
12.03 JAK1 JAK2 JAK3
11
Show member pathways
12.01 JAK1 JAK2 LHCGR PRL
12
Show member pathways
11.99 JAK1 JAK2 JAK3
13
Show member pathways
11.97 JAK1 JAK2 JAK3
14
Show member pathways
11.92 JAK1 JAK2 JAK3
15
Show member pathways
11.84 JAK1 JAK2 JAK3
16 11.81 JAK1 JAK2 JAK3
17
Show member pathways
11.78 JAK1 JAK2 JAK3
18
Show member pathways
11.66 JAK1 JAK2 JAK3
19 11.64 JAK1 JAK2 JAK3
20 11.64 JAK1 JAK2 JAK3
21
Show member pathways
11.51 JAK1 JAK2 JAK3
22 11.36 JAK2 PRL
23 11.33 JAK1 JAK2
24
Show member pathways
11.32 JAK1 JAK3
25 11.29 JAK1 JAK2
26
Show member pathways
11.26 JAK1 JAK2
27
Show member pathways
11.26 JAK1 JAK3
28
Show member pathways
11.24 JAK2 PRL
29
Show member pathways
11.21 JAK1 JAK2
30 11.18 JAK1 JAK2
31 11.13 JAK1 JAK2 JAK3
32 11.04 JAK1 JAK3
33 10.83 JAK1 JAK2
34 10.79 JAK1 JAK2 JAK3
35 10.4 JAK1 JAK2 JAK3

GO Terms for Lactocele

Cellular components related to Lactocele according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endosome GO:0005768 9.46 CD68 JAK1 JAK3 LHCGR
2 endomembrane system GO:0012505 9.43 JAK1 JAK2 JAK3
3 endosome lumen GO:0031904 8.96 JAK2 PRL
4 extrinsic component of cytoplasmic side of plasma membrane GO:0031234 8.8 JAK1 JAK2 JAK3

Biological processes related to Lactocele according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.86 JAK1 JAK2 JAK3 TRIM21
2 MAPK cascade GO:0000165 9.79 JAK1 JAK2 JAK3
3 regulation of cell proliferation GO:0042127 9.77 JAK1 JAK2 JAK3
4 cell migration GO:0016477 9.76 JAK1 JAK2 JAK3
5 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.72 JAK1 JAK2 JAK3
6 interleukin-12-mediated signaling pathway GO:0035722 9.62 JAK1 JAK2
7 erythrocyte differentiation GO:0030218 9.61 JAK2 JAK3
8 hormone-mediated signaling pathway GO:0009755 9.6 JAK2 LHCGR
9 response to antibiotic GO:0046677 9.58 JAK1 JAK2
10 interleukin-7-mediated signaling pathway GO:0038111 9.57 JAK1 JAK3
11 interleukin-6-mediated signaling pathway GO:0070102 9.54 JAK1 JAK2
12 regulation of interferon-gamma-mediated signaling pathway GO:0060334 9.52 JAK1 JAK2
13 interleukin-15-mediated signaling pathway GO:0035723 9.51 JAK1 JAK3
14 enzyme linked receptor protein signaling pathway GO:0007167 9.49 JAK2 JAK3
15 interleukin-27-mediated signaling pathway GO:0070106 9.48 JAK1 JAK2
16 interleukin-2-mediated signaling pathway GO:0038110 9.46 JAK1 JAK3
17 interleukin-35-mediated signaling pathway GO:0070757 9.43 JAK1 JAK2
18 interferon-gamma-mediated signaling pathway GO:0060333 9.43 JAK1 JAK2 TRIM21
19 regulation of JAK-STAT cascade GO:0046425 9.4 JAK2 JAK3
20 tyrosine phosphorylation of STAT protein GO:0007260 9.37 JAK2 JAK3
21 interleukin-21-mediated signaling pathway GO:0038114 9.32 JAK1 JAK3
22 interleukin-9-mediated signaling pathway GO:0038113 9.16 JAK1 JAK3
23 peptidyl-tyrosine autophosphorylation GO:0038083 9.13 JAK1 JAK2 JAK3
24 JAK-STAT cascade involved in growth hormone signaling pathway GO:0060397 8.8 JAK2 JAK3 PRL

Molecular functions related to Lactocele according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.56 HAO1 JAK1 JAK2 JAK3
2 protein tyrosine kinase activity GO:0004713 9.5 JAK1 JAK2 JAK3
3 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.33 JAK1 JAK2 JAK3
4 growth hormone receptor binding GO:0005131 8.96 JAK1 JAK2
5 non-membrane spanning protein tyrosine kinase activity GO:0004715 8.8 JAK1 JAK2 JAK3

Sources for Lactocele

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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