MCID: 46X071
MIFTS: 32

46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect

Categories: Endocrine diseases, Fetal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for 46,xy Disorder of Sexual Development Due to Dihydrotestosterone...

MalaCards integrated aliases for 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect:

Name: 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect 59

Classifications:



External Ids:

Orphanet 59 ORPHA443090

Summaries for 46,xy Disorder of Sexual Development Due to Dihydrotestosterone...

MalaCards based summary : 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect is related to spindle cell intraocular melanoma and colorectal cancer, hereditary nonpolyposis, type 7. An important gene associated with 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect is EPCAM (Epithelial Cell Adhesion Molecule), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Regulation of TP53 Activity. Related phenotypes are Increased viability with MLN4924 (a NAE inhibitor) and Synthetic lethal with vaccinia virus (VACV) infection

Related Diseases for 46,xy Disorder of Sexual Development Due to Dihydrotestosterone...

Diseases in the 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect family:

46, Xy Disorders of Sexual Development

Diseases related to 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
# Related Disease Score Top Affiliating Genes
1 spindle cell intraocular melanoma 10.1 PMS2 MLH1
2 colorectal cancer, hereditary nonpolyposis, type 7 10.0 MSH2 MLH1
3 lower lip cancer 10.0 MSH2 MLH1
4 anal fistula 10.0 MSH2 MLH1
5 melanocytic nevus syndrome, congenital 9.9 MSH2 MLH1
6 childhood kidney cell carcinoma 9.9 MSH2 MLH1
7 intestinal benign neoplasm 9.9 MSH2 MLH1
8 keratoacanthoma 9.8 MSH2 MLH1
9 familial colorectal cancer 9.8 MSH2 MLH1
10 endocrine gland cancer 9.8 MLH1 EPCAM
11 colorectal adenoma 9.8 MSH2 MLH1
12 colorectal cancer 5 9.8 MSH6 MLH1
13 gastric leiomyoma 9.8 MSH6 MLH1
14 attenuated familial adenomatous polyposis 9.7 MSH6 MSH2
15 legius syndrome 9.6 MSH6 MSH2
16 neurofibromatosis, type iv, of riccardi 9.6 PMS2 MSH6
17 gastrointestinal system disease 9.6 MSH2 MLH1
18 colorectal cancer, hereditary nonpolyposis, type 4 9.5 PMS2 MSH2 MLH1
19 hereditary breast ovarian cancer syndrome 9.5 MSH6 MLH1
20 adamantinoma of long bones 9.5 MSH2 MLH1 EPCAM
21 colon adenocarcinoma 9.5 MSH6 MLH1
22 ulcerative colitis 9.4 MSH2 MLH1
23 cecum adenocarcinoma 9.3 MSH6 MSH2 MLH1
24 skin benign neoplasm 9.3 MSH6 MSH2 MLH1
25 colorectal cancer, hereditary nonpolyposis, type 5 9.3 MSH6 MSH2 MLH1
26 colorectal adenocarcinoma 9.2 MSH6 MSH2 MLH1
27 female reproductive system disease 9.2 MSH6 MSH2 MLH1
28 familial adenomatous polyposis 9.2 MSH6 MSH2 MLH1
29 rhabdomyosarcoma 9.2 PMS2 MSH6 MSH2
30 brain cancer 9.1 PMS2 MSH6 MSH2
31 appendix carcinoid tumor 8.8 PMS2 MSH6 MSH2 MLH1
32 adenosquamous colon carcinoma 8.8 PMS2 MSH6 MSH2 MLH1
33 sebaceous adenoma 8.8 PMS2 MSH6 MSH2 MLH1
34 sebaceous adenocarcinoma 8.8 PMS2 MSH6 MSH2 MLH1
35 muir-torre syndrome 8.8 PMS2 MSH6 MSH2 MLH1
36 small intestine cancer 8.8 PMS2 MSH6 MSH2 MLH1
37 mismatch repair cancer syndrome 8.8 PMS2 MSH6 MSH2 MLH1
38 uterine anomalies 8.8 PMS2 MSH6 MSH2 MLH1
39 colonic disease 8.8 PMS2 MSH6 MSH2 MLH1
40 autosomal genetic disease 8.8 PMS2 MSH6 MSH2 MLH1
41 intestinal disease 8.8 PMS2 MSH6 MSH2 MLH1
42 endometrial cancer 8.7 PMS2 MSH6 MSH2 MLH1
43 ovarian cancer 8.7 MSH6 MSH2 MLH1 EPCAM
44 lynch syndrome i 8.4 PMS2 MSH6 MSH2 MLH1 EPCAM
45 lynch syndrome 8.4 PMS2 MSH6 MSH2 MLH1 EPCAM
46 gastrointestinal system cancer 8.4 PMS2 MSH6 MSH2 MLH1 EPCAM
47 large intestine cancer 8.4 PMS2 MSH6 MSH2 MLH1 EPCAM
48 colorectal cancer 8.3 PMS2 MSH6 MSH2 MLH1 EPCAM

Graphical network of the top 20 diseases related to 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect:



Diseases related to 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect

Symptoms & Phenotypes for 46,xy Disorder of Sexual Development Due to Dihydrotestosterone...

GenomeRNAi Phenotypes related to 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.26 MLH1 MSH2 MSH6 PMS2
2 Synthetic lethal with vaccinia virus (VACV) infection GR00362-A 8.8 MLH1 MSH6 PMS2

MGI Mouse Phenotypes related to 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.8 EPCAM MLH1 MSH2 MSH6 PMS2
2 hematopoietic system MP:0005397 9.72 EPCAM MLH1 MSH2 MSH6 PMS2
3 digestive/alimentary MP:0005381 9.67 EPCAM MLH1 MSH2 PMS2
4 homeostasis/metabolism MP:0005376 9.65 EPCAM MLH1 MSH2 MSH6 PMS2
5 immune system MP:0005387 9.55 EPCAM MLH1 MSH2 MSH6 PMS2
6 mortality/aging MP:0010768 9.35 EPCAM MLH1 MSH2 MSH6 PMS2
7 neoplasm MP:0002006 8.92 MLH1 MSH2 MSH6 PMS2

Drugs & Therapeutics for 46,xy Disorder of Sexual Development Due to Dihydrotestosterone...

Search Clinical Trials , NIH Clinical Center for 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect

Genetic Tests for 46,xy Disorder of Sexual Development Due to Dihydrotestosterone...

Anatomical Context for 46,xy Disorder of Sexual Development Due to Dihydrotestosterone...

Publications for 46,xy Disorder of Sexual Development Due to Dihydrotestosterone...

Variations for 46,xy Disorder of Sexual Development Due to Dihydrotestosterone...

ClinVar genetic disease variations for 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect:

6 (show top 50) (show all 5596)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MSH6 NM_000179.2(MSH6): c.3573dup (p.Val1192fs) duplication Pathogenic rs1057517764 2:48032773-48032773 2:47805634-47805634
2 MSH6 NM_000179.2(MSH6): c.3449T> A (p.Leu1150Ter) single nucleotide variant Pathogenic rs1057517763 2:48032059-48032059 2:47804920-47804920
3 PMS2 NM_000535.7(PMS2): c.1743del (p.Glu582fs) deletion Pathogenic rs1057517801 7:6026653-6026653 7:5987022-5987022
4 PMS2 NM_000535.7(PMS2): c.445del (p.Tyr149fs) deletion Pathogenic rs769742496 7:6042176-6042176 7:6002545-6002545
5 PMS2 NM_000535.7(PMS2): c.2140C> T (p.Gln714Ter) single nucleotide variant Pathogenic rs1057524433 7:6022489-6022489 7:5982858-5982858
6 PMS2 NM_000535.7(PMS2): c.1376C> G (p.Ser459Ter) single nucleotide variant Pathogenic rs587780724 7:6027020-6027020 7:5987389-5987389
7 MSH2 NM_000251.2(MSH2): c.350G> A (p.Trp117Ter) single nucleotide variant Pathogenic rs786202083 2:47635678-47635678 2:47408539-47408539
8 MSH2 NM_000251.2(MSH2): c.1308dup (p.Val437fs) duplication Pathogenic rs1060502035 2:47672718-47672718 2:47445579-47445579
9 MSH2 NM_000251.2(MSH2): c.1796del (p.Val598_Leu599insTer) deletion Pathogenic rs1060502039 2:47702200-47702200 2:47475061-47475061
10 MSH2 NM_000251.2(MSH2): c.943-1G> T single nucleotide variant Pathogenic rs12476364 2:47643434-47643434 2:47416295-47416295
11 MSH6 NM_000179.2(MSH6): c.896del (p.Lys299fs) deletion Pathogenic rs1060502941 2:48026018-48026018 2:47798879-47798879
12 MSH2 NM_000251.2(MSH2): c.2640_2656del (p.Glu881fs) deletion Pathogenic rs1064792951 2:47709923-47709939 2:47482784-47482800
13 MSH6 NM_000179.2(MSH6): c.2010del (p.Gly670_Leu671insTer) deletion Pathogenic rs1060502918 2:48027132-48027132 2:47799993-47799993
14 MSH6 NM_000179.2(MSH6): c.2735G> A (p.Trp912Ter) single nucleotide variant Pathogenic rs1060502876 2:48027857-48027857 2:47800718-47800718
15 MSH6 NM_000179.2(MSH6): c.873_874del (p.Asn291fs) deletion Pathogenic rs1060502888 2:48025995-48025996 2:47798856-47798857
16 MSH6 NM_000179.2(MSH6): c.3253del (p.Thr1085fs) deletion Pathogenic rs1060502891 2:48030639-48030639 2:47803500-47803500
17 MSH6 NM_000179.2(MSH6): c.3556+1G> A single nucleotide variant Pathogenic rs1060502926 2:48032167-48032167 2:47805028-47805028
18 MSH6 NM_000179.2(MSH6): c.1572C> A (p.Tyr524Ter) single nucleotide variant Pathogenic rs587779215 2:48026694-48026694 2:47799555-47799555
19 MSH6 NM_000179.2(MSH6): c.1815_1816del (p.Lys606fs) deletion Pathogenic rs1060502886 2:48026937-48026938 2:47799798-47799799
20 MSH6 NM_000179.2(MSH6): c.2550C> G (p.Tyr850Ter) single nucleotide variant Pathogenic rs374230313 2:48027672-48027672 2:47800533-47800533
21 MSH6 NM_000179.2(MSH6): c.2991del (p.Lys997fs) deletion Pathogenic rs1060502890 2:48028113-48028113 2:47800974-47800974
22 MSH6 NM_000179.2(MSH6): c.3827_3830dup (p.Asp1277fs) duplication Pathogenic rs1060502903 2:48033616-48033619 2:47806477-47806480
23 MSH6 NM_000179.2(MSH6): c.442_443del (p.Leu148fs) deletion Pathogenic rs1060502875 2:48018247-48018248 2:47791108-47791109
24 MLH1 NM_000249.3(MLH1): c.390C> G (p.Tyr130Ter) single nucleotide variant Pathogenic rs1060500689 3:37048491-37048491 3:37007000-37007000
25 MLH1 NM_000249.3(MLH1): c.2259del (p.Phe753fs) deletion Pathogenic rs1060500698 3:37092132-37092132 3:37050641-37050641
26 MLH1 NM_000249.3(MLH1): c.1105dup (p.Ser369fs) duplication Pathogenic rs1060500699 3:37067194-37067194 3:37025703-37025703
27 MSH6 NM_000179.2(MSH6): c.3577_3581del (p.Glu1193fs) deletion Pathogenic rs1060502881 2:48032777-48032781 2:47805638-47805642
28 PMS2 NM_000535.7(PMS2): c.1348A> T (p.Lys450Ter) single nucleotide variant Pathogenic rs1060503142 7:6027048-6027048 7:5987417-5987417
29 PMS2 NM_000535.7(PMS2): c.1864_1865del (p.Met622fs) deletion Pathogenic rs1060503137 7:6026531-6026532 7:5986900-5986901
30 PMS2 NM_000535.7(PMS2): c.684_685CT[1] (p.Ser229fs) short repeat Pathogenic rs746766787 7:6038757-6038758 7:5999126-5999127
31 PMS2 NM_000535.7(PMS2): c.1653C> A (p.Cys551Ter) single nucleotide variant Pathogenic rs876659162 7:6026743-6026743 7:5987112-5987112
32 PMS2 NM_000535.7(PMS2): c.2192T> G (p.Leu731Ter) single nucleotide variant Pathogenic rs1060503110 7:6018310-6018310 7:5978679-5978679
33 MSH2 NM_000251.2(MSH2): c.876dup (p.Thr293fs) duplication Pathogenic rs1553352505 2:47641491-47641491 2:47414352-47414352
34 MSH2 NM_000251.2(MSH2): c.1968C> A (p.Tyr656Ter) single nucleotide variant Pathogenic rs63751317 2:47702372-47702372 2:47475233-47475233
35 MSH6 NM_000179.2(MSH6): c.1615_1617CTT[1] (p.Leu540del) short repeat Pathogenic rs1064793600 2:48026740-48026742 2:47799601-47799603
36 MSH2 NM_000251.2(MSH2): c.1565_1568del (p.Tyr522fs) deletion Pathogenic rs1064793561 2:47693851-47693854 2:47466712-47466715
37 MSH6 NM_000179.2(MSH6): c.1933G> T (p.Glu645Ter) single nucleotide variant Pathogenic rs1064795591 2:48027055-48027055 2:47799916-47799916
38 MSH6 NM_000179.2(MSH6): c.2028_2029del (p.Lys676_Ser677insTer) deletion Pathogenic rs1064794055 2:48027150-48027151 2:47800011-47800012
39 MSH6 NM_000179.2(MSH6): c.3083C> G (p.Ser1028Ter) single nucleotide variant Pathogenic rs876660853 2:48028205-48028205 2:47801066-47801066
40 MSH6 NM_000179.2(MSH6): c.2690dup (p.Asn897fs) duplication Pathogenic rs1553414010 2:48027812-48027812 2:47800673-47800673
41 MSH6 NM_000179.2(MSH6): c.3934_3937dup (p.Ile1313fs) duplication Pathogenic rs760190301 2:48033723-48033726 2:47806584-47806587
42 MSH6 NM_000179.2(MSH6): c.3714_3715TA[1] (p.Ile1239fs) short repeat Pathogenic rs1064794384 2:48033412-48033413 2:47806273-47806274
43 MLH1 NM_000249.3(MLH1): c.9_21del (p.Phe3fs) deletion Pathogenic rs1064795341 3:37035047-37035059 3:36993556-36993568
44 MLH1 NM_000249.3(MLH1): c.67dup (p.Glu23fs) duplication Pathogenic rs63750822 3:37035105-37035105 3:36993614-36993614
45 MLH1 NM_000249.3(MLH1): c.2142G> A (p.Trp714Ter) single nucleotide variant Pathogenic rs63750978 3:37092015-37092015 3:37050524-37050524
46 PMS2 NM_000535.7(PMS2): c.1579_1580del (p.Arg527fs) deletion Pathogenic rs1064793234 7:6026816-6026817 7:5987185-5987186
47 PMS2 NM_000535.7(PMS2): c.828C> A (p.Cys276Ter) single nucleotide variant Pathogenic rs757324104 7:6035240-6035240 7:5995609-5995609
48 PMS2 NM_000535.7(PMS2): c.688_689GT[1] (p.Phe231fs) short repeat Pathogenic rs1064795447 7:6038753-6038754 7:5999122-5999123
49 PMS2 NM_000535.7(PMS2): c.655G> T (p.Gly219Ter) single nucleotide variant Pathogenic rs1064796190 7:6038789-6038789 7:5999158-5999158
50 PMS2 NM_000535.7(PMS2): c.1970dup (p.Asn657fs) duplication Pathogenic rs1064794566 7:6026426-6026426 7:5986795-5986795

Expression for 46,xy Disorder of Sexual Development Due to Dihydrotestosterone...

Search GEO for disease gene expression data for 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect.

Pathways for 46,xy Disorder of Sexual Development Due to Dihydrotestosterone...

Pathways related to 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.71 PMS2 MSH6 MSH2 MLH1
2
Show member pathways
12.56 PMS2 MSH2 MLH1
3
Show member pathways
12.51 MSH6 MSH2 MLH1
4
Show member pathways
12.45 MSH6 MSH2 MLH1
5 12.41 MSH6 MSH2 MLH1
6 12.08 MSH6 MSH2 MLH1
7 11.72 MSH6 MSH2 MLH1
8 11.55 PMS2 MSH2 MLH1
9 11.52 PMS2 MLH1
10
Show member pathways
11.46 MSH6 MSH2
11
Show member pathways
11.23 PMS2 MSH6 MSH2 MLH1
12 11.2 MSH6 MSH2 MLH1
13 11.16 MSH6 MSH2
14 11.15 MSH6 MSH2 MLH1
15
Show member pathways
11.12 MSH2 MLH1
16
Show member pathways
11.06 MSH2 MLH1
17 10.39 PMS2 MSH6 MSH2 MLH1

GO Terms for 46,xy Disorder of Sexual Development Due to Dihydrotestosterone...

Cellular components related to 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 MutLalpha complex GO:0032389 9.16 PMS2 MLH1
2 MutSalpha complex GO:0032301 8.96 MSH6 MSH2
3 mismatch repair complex GO:0032300 8.92 PMS2 MSH6 MSH2 MLH1

Biological processes related to 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.8 PMS2 MSH6 MSH2 MLH1
2 DNA repair GO:0006281 9.71 PMS2 MSH6 MSH2 MLH1
3 negative regulation of DNA recombination GO:0045910 9.56 MSH6 MSH2
4 determination of adult lifespan GO:0008340 9.55 MSH6 MSH2
5 positive regulation of isotype switching to IgG isotypes GO:0048304 9.54 MSH2 MLH1
6 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.54 MSH6 MSH2 MLH1
7 positive regulation of helicase activity GO:0051096 9.52 MSH6 MSH2
8 positive regulation of isotype switching to IgA isotypes GO:0048298 9.48 MSH2 MLH1
9 maintenance of DNA repeat elements GO:0043570 9.46 MSH6 MSH2
10 isotype switching GO:0045190 9.43 MSH6 MSH2 MLH1
11 somatic recombination of immunoglobulin gene segments GO:0016447 9.33 MSH6 MSH2 MLH1
12 somatic recombination of immunoglobulin genes involved in immune response GO:0002204 9.32 MSH2 MLH1
13 interstrand cross-link repair GO:0036297 9.27 MSH6
14 mismatch repair GO:0006298 9.26 PMS2 MSH6 MSH2 MLH1
15 pyrimidine dimer repair GO:0006290 9.21 MSH6
16 meiotic mismatch repair GO:0000710 9.13 MSH6
17 somatic hypermutation of immunoglobulin genes GO:0016446 8.92 PMS2 MSH6 MSH2 MLH1

Molecular functions related to 46,xy Disorder of Sexual Development Due to Dihydrotestosterone Backdoor Pathway Biosynthesis Defect according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.85 PMS2 MSH6 MSH2 MLH1
2 chromatin binding GO:0003682 9.71 MSH6 MSH2 MLH1
3 enzyme binding GO:0019899 9.7 MSH6 MSH2 MLH1
4 double-stranded DNA binding GO:0003690 9.57 MSH6 MSH2
5 damaged DNA binding GO:0003684 9.56 MSH6 MSH2
6 single-stranded DNA binding GO:0003697 9.54 PMS2 MSH2 MLH1
7 DNA-dependent ATPase activity GO:0008094 9.51 MSH6 MSH2
8 ADP binding GO:0043531 9.49 MSH6 MSH2
9 four-way junction DNA binding GO:0000400 9.48 MSH6 MSH2
10 oxidized purine DNA binding GO:0032357 9.46 MSH6 MSH2
11 ATPase activity GO:0016887 9.46 PMS2 MSH6 MSH2 MLH1
12 MutSalpha complex binding GO:0032407 9.43 PMS2 MLH1
13 MutLalpha complex binding GO:0032405 9.4 MSH6 MSH2
14 single thymine insertion binding GO:0032143 9.32 MSH6 MSH2
15 single guanine insertion binding GO:0032142 9.26 MSH6 MSH2
16 guanine/thymine mispair binding GO:0032137 9.13 MSH6 MSH2 MLH1
17 mismatched DNA binding GO:0030983 8.92 PMS2 MSH6 MSH2 MLH1

Sources for 46,xy Disorder of Sexual Development Due to Dihydrotestosterone...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....