MCID: 46X071
MIFTS: 30

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 58

Classifications:

Orphanet: 58  
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 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 intracranial meningioma and ascending colon cancer. 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 DNA Damage. Related phenotypes are Synthetic lethal with MLN4924 (a NAE inhibitor) and Synthetic lethal with MLN4924 (a NAE inhibitor)

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

Diseases in the Disorder of Sexual Development family:

46, Xy Disorders of Sexual Development 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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 89)
# Related Disease Score Top Affiliating Genes
1 intracranial meningioma 10.1 MSH2 MLH1
2 ascending colon cancer 10.1 MSH2 MLH1
3 lower lip cancer 10.1 MSH2 MLH1
4 anal fistula 10.1 MSH2 MLH1
5 melanocytic nevus syndrome, congenital 10.1 MSH2 MLH1
6 silent pituitary adenoma 10.1 MSH6 MSH2
7 endometrioid ovary carcinoma 10.0 MSH6 MLH1
8 spindle cell intraocular melanoma 10.0 PMS2 MLH1
9 ureter, cancer of 10.0 MSH2 MLH1
10 transverse colon cancer 10.0 PMS2 MLH1
11 signet ring cell adenocarcinoma 10.0 MSH2 MLH1
12 attenuated familial adenomatous polyposis 10.0 MSH6 MSH2
13 colorectal cancer, hereditary nonpolyposis, type 4 10.0 PMS2 MLH1
14 uterine body mixed cancer 10.0 MSH6 MLH1
15 familial colorectal cancer 10.0 MSH2 MLH1
16 legius syndrome 10.0 MSH6 MSH2
17 periampullary adenoma 10.0 PMS2 MSH6
18 esophageal tuberculosis 9.9 PMS2 MSH6
19 keratoacanthoma 9.9 MSH2 MLH1
20 fallopian tube endometrioid adenocarcinoma 9.9 PMS2 MSH6
21 rectosigmoid cancer 9.9 PMS2 MSH6
22 adenoma 9.9 MSH6 MSH2 MLH1
23 renal pelvis transitional cell carcinoma 9.9 MSH6 MSH2 MLH1
24 autosomal dominant non-syndromic intellectual disability 8 9.9 MSH6 MSH2 MLH1
25 bilateral breast cancer 9.9 MSH6 MLH1
26 breast-ovarian cancer, familial 1 9.8 MSH6 MSH2 MLH1
27 cecum carcinoma 9.8 MSH6 MSH2 MLH1
28 alveolar soft part sarcoma 9.8 MSH2 MLH1
29 skin benign neoplasm 9.8 MSH6 MSH2 MLH1
30 endometrial hyperplasia 9.8 MSH6 MSH2 MLH1
31 gastrointestinal system benign neoplasm 9.8 MSH6 MSH2 MLH1
32 rectum cancer 9.8 MSH6 MSH2 MLH1
33 familial adenomatous polyposis 9.8 MSH6 MSH2 MLH1
34 melanoma, cutaneous malignant 1 9.8 MSH6 MSH2 MLH1
35 jejunal adenocarcinoma 9.8 PMS2 MSH6 MLH1
36 ulcerative colitis 9.8 MSH6 MSH2 MLH1
37 colitis 9.8 MSH6 MSH2 MLH1
38 esophagus sarcoma 9.7 PMS2 MSH6 MSH2
39 cervical adenosarcoma 9.7 PMS2 MSH6 MSH2
40 t-cell non-hodgkin lymphoma 9.7 PMS2 MSH6 MSH2
41 colorectal adenoma 9.7 MSH2 MLH1
42 adenocarcinoma 9.7 MSH6 MSH2 MLH1 EPCAM
43 xeroderma pigmentosum, variant type 9.7 MSH6 MSH2 MLH1
44 rectum signet ring adenocarcinoma 9.6 PMS2 MSH2 MLH1 EPCAM
45 extrahepatic bile duct adenoma 9.5 PMS2 MSH6 MSH2 MLH1
46 adenosquamous colon carcinoma 9.5 PMS2 MSH6 MSH2 MLH1
47 appendix carcinoid tumor 9.5 PMS2 MSH6 MSH2 MLH1
48 mismatch repair cancer syndrome 9.5 PMS2 MSH6 MSH2 MLH1
49 colon adenocarcinoma 9.5 PMS2 MSH6 MLH1 EPCAM
50 jejunal cancer 9.5 PMS2 MSH6 MSH2 MLH1

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 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.1 MLH1
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.1 MLH1
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.1 MLH1 MSH2 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 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 7882)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MLH1 NM_000249.3(MLH1):c.2190del (p.Pro731fs) Deletion Pathogenic 135851 rs587780683 3:37092063-37092063 3:37050572-37050572
2 MSH6 NM_000179.2(MSH6):c.1045C>T (p.Gln349Ter) SNV Pathogenic 216042 rs863224473 2:48026167-48026167 2:47799028-47799028
3 PMS2 NM_000535.7(PMS2):c.1638_1639del (p.Ser547fs) Deletion Pathogenic 216075 rs863224498 7:6026757-6026758 7:5987126-5987127
4 PMS2 NM_000535.7(PMS2):c.1750dup (p.Ile584fs) Duplication Pathogenic 220605 rs864622600 7:6026645-6026646 7:5987014-5987015
5 MLH1 NM_000249.3(MLH1):c.2249dup (p.Tyr750Ter) Duplication Pathogenic 237334 rs878853787 3:37092121-37092122 3:37050630-37050631
6 PMS2 NM_000535.7(PMS2):c.1500dup (p.Val501fs) Duplication Pathogenic 237887 rs759151952 7:6026895-6026896 7:5987264-5987265
7 MSH6 NM_000179.2(MSH6):c.3930_3970dup (p.Glu1324fs) Duplication Pathogenic 237202 rs878853742 2:48033718-48033719 2:47806579-47806580
8 MSH6 NM_000179.2(MSH6):c.2680C>T (p.Gln894Ter) SNV Pathogenic 237162 rs878853718 2:48027802-48027802 2:47800663-47800663
9 PMS2 NM_000535.7(PMS2):c.945_946AC[1] (p.His316fs) Microsatellite Pathogenic 237934 rs878854060 7:6031644-6031645 7:5992013-5992014
10 PMS2 NM_000535.7(PMS2):c.1653C>A (p.Cys551Ter) SNV Pathogenic 411087 rs876659162 7:6026743-6026743 7:5987112-5987112
11 MLH1 NM_000249.3(MLH1):c.1039-2A>C SNV Pathogenic 405391 rs267607815 3:37067126-37067126 3:37025635-37025635
12 PMS2 NM_000535.7(PMS2):c.684_685CT[1] (p.Ser229fs) Microsatellite Pathogenic 411063 rs746766787 7:6038757-6038758 7:5999126-5999127
13 MSH2 NM_000251.2(MSH2):c.2161G>T (p.Gly721Ter) SNV Pathogenic 408548 rs1060502032 2:47703661-47703661 2:47476522-47476522
14 MSH2 NM_000251.2(MSH2):c.1308dup (p.Val437fs) Duplication Pathogenic 408551 rs1060502035 2:47672713-47672714 2:47445574-47445575
15 PMS2 NM_000535.7(PMS2):c.1348A>T (p.Lys450Ter) SNV Pathogenic 411069 rs1060503142 7:6027048-6027048 7:5987417-5987417
16 MSH2 NM_000251.2(MSH2):c.85A>T (p.Lys29Ter) SNV Pathogenic 408478 rs1060502001 2:47630415-47630415 2:47403276-47403276
17 MLH1 NM_000249.3(MLH1):c.390C>G (p.Tyr130Ter) SNV Pathogenic 405390 rs1060500689 3:37048491-37048491 3:37007000-37007000
18 MSH6 NM_000179.2(MSH6):c.3827_3830dup (p.Asp1277fs) Duplication Pathogenic 410442 rs1060502903 2:48033615-48033616 2:47806476-47806477
19 MSH2 NM_000251.2(MSH2):c.2640_2656del (p.Glu881fs) Deletion Pathogenic 408510 rs1064792951 2:47709920-47709936 2:47482781-47482797
20 MSH2 NM_000251.2(MSH2):c.1796del (p.Val598_Leu599insTer) Deletion Pathogenic 408559 rs1060502039 2:47702199-47702199 2:47475060-47475060
21 MSH6 NM_000179.2(MSH6):c.3556+1G>A SNV Pathogenic 410489 rs1060502926 2:48032167-48032167 2:47805028-47805028
22 MSH2 NM_000251.2(MSH2):c.350G>A (p.Trp117Ter) SNV Pathogenic 408504 rs786202083 2:47635678-47635678 2:47408539-47408539
23 PMS2 NM_000535.7(PMS2):c.2192T>G (p.Leu731Ter) SNV Pathogenic 411015 rs1060503110 7:6018310-6018310 7:5978679-5978679
24 MSH6 NM_000179.2(MSH6):c.3809_3812dup (p.Glu1272fs) Duplication Pathogenic 455289 rs1553333301 2:48033597-48033598 2:47806458-47806459
25 MSH6 NM_000179.2(MSH6):c.3398del (p.Thr1133fs) Deletion Pathogenic 455256 rs1553331722 2:48030784-48030784 2:47803645-47803645
26 MSH2 NM_000251.2(MSH2):c.2563C>T (p.Gln855Ter) SNV Pathogenic 455569 rs1553370404 2:47707939-47707939 2:47480800-47480800
27 PMS2 NM_000535.7(PMS2):c.1579del (p.Arg527fs) Deletion Pathogenic 455662 rs1554297523 7:6026817-6026817 7:5987186-5987186
28 MSH6 NM_000179.2(MSH6):c.3281dup (p.Arg1095fs) Duplication Pathogenic 455245 rs1553331454 2:48030666-48030667 2:47803527-47803528
29 MSH6 NM_000179.2(MSH6):c.3880_3892del (p.Cys1294fs) Deletion Pathogenic 455303 rs1553333497 2:48033665-48033677 2:47806526-47806538
30 MLH1 NM_000249.3(MLH1):c.1447del (p.Glu483fs) Deletion Pathogenic 455387 rs1553652930 3:37070311-37070311 3:37028820-37028820
31 MLH1 NM_001354621.1(MLH1):c.-13_-10delinsAATGTGCA Indel Pathogenic 455363 rs1553648195 3:37061927-37061930 3:37020436-37020439
32 MSH6 NM_000179.2(MSH6):c.3238del (p.Leu1080fs) Deletion Pathogenic 455242 rs1553331337 2:48030624-48030624 2:47803485-47803485
33 PMS2 NM_000535.7(PMS2):c.1068del (p.Thr357fs) Deletion Pathogenic 455637 rs1554298741 7:6029507-6029507 7:5989876-5989876
34 MLH1 NM_000249.3(MLH1):c.404dup (p.Lys136fs) Duplication Pathogenic 455432 rs1553642079 3:37048504-37048505 3:37007013-37007014
35 MLH1 NM_000249.3(MLH1):c.979C>T (p.Gln327Ter) SNV Pathogenic 455464 rs587782087 3:37061895-37061895 3:37020404-37020404
36 MLH1 NM_001167617.2(MLH1):c.967delinsTAT (p.Ser323fs) Indel Pathogenic 455381 rs1553651130 3:37067350-37067350 3:37025859-37025859
37 MSH6 NM_000179.2(MSH6):c.1299del (p.Phe432_Tyr433insTer) Deletion Pathogenic 455129 rs1553412735 2:48026421-48026421 2:47799282-47799282
38 MSH6 NM_000179.2(MSH6):c.2371_2372insAGAC (p.Arg791fs) Insertion Pathogenic 455191 rs1553413732 2:48027492-48027493 2:47800353-47800354
39 MSH2 NM_000251.2(MSH2):c.193_194insTC (p.Lys65fs) Insertion Pathogenic 455534 rs1553348898 2:47630523-47630524 2:47403384-47403385
40 MSH2 NM_000251.2(MSH2):c.2085dup (p.Pro696fs) Duplication Pathogenic 455541 rs1553369100 2:47703584-47703585 2:47476445-47476446
41 PMS2 NM_000535.7(PMS2):c.2522G>A (p.Trp841Ter) SNV Pathogenic 234759 rs876661203 7:6013097-6013097 7:5973466-5973466
42 MLH1 NM_000249.3(MLH1):c.2161_2191dup (p.Pro731delinsLeuTer) Duplication Pathogenic 455421 rs1553665683 3:37092031-37092032 3:37050540-37050541
43 PMS2 NM_000535.7(PMS2):c.2140C>T (p.Gln714Ter) SNV Pathogenic 392296 rs1057524433 7:6022489-6022489 7:5982858-5982858
44 MSH6 NM_000179.2(MSH6):c.3577_3580dup (p.Leu1194Ter) Duplication Pathogenic 455271 rs773262801 2:48032775-48032776 2:47805636-47805637
45 MSH6 NM_000179.2(MSH6):c.1223del (p.Pro408fs) Deletion Pathogenic 455125 rs1553412649 2:48026344-48026344 2:47799205-47799205
46 MLH1 NM_000249.3(MLH1):c.532G>T (p.Glu178Ter) SNV Pathogenic 455443 rs1248251121 3:37050383-37050383 3:37008892-37008892
47 PMS2 NM_000535.7(PMS2):c.748_749del (p.Ser250fs) Deletion Pathogenic 455740 rs1554301486 7:6037011-6037012 7:5997380-5997381
48 MSH6 NM_000179.2(MSH6):c.1923del (p.Glu641fs) Deletion Pathogenic 455164 rs869040863 2:48027044-48027044 2:47799905-47799905
49 PMS2 NC_000007.13:g.(?_6026384)_(6027257_?)del Deletion Pathogenic 455074 7:6026384-6027257
50 MSH2 NM_000251.2(MSH2):c.206del (p.Pro69fs) Deletion Pathogenic 455539 rs1553348904 2:47630535-47630535 2:47403396-47403396

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 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.78 PMS2 MSH6 MSH2 MLH1
2 12.02 MSH6 MSH2 MLH1
3 11.72 MSH6 MSH2 MLH1
4 11.55 PMS2 MSH2 MLH1
5
Show member pathways
11.41 MSH6 MSH2
6
Show member pathways
11.23 PMS2 MSH6 MSH2 MLH1
7 11.2 MSH6 MSH2 MLH1
8 11.12 MSH6 MSH2
9
Show member pathways
11.08 MSH2 MLH1
10
Show member pathways
11.01 MSH2 MLH1
11 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 14)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.81 PMS2 MSH6 MSH2 MLH1
2 DNA repair GO:0006281 9.78 PMS2 MSH6 MSH2 MLH1
3 determination of adult lifespan GO:0008340 9.54 MSH6 MSH2
4 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.54 MSH6 MSH2 MLH1
5 negative regulation of DNA recombination GO:0045910 9.52 MSH6 MSH2
6 positive regulation of isotype switching to IgG isotypes GO:0048304 9.49 MSH2 MLH1
7 positive regulation of helicase activity GO:0051096 9.46 MSH6 MSH2
8 positive regulation of isotype switching to IgA isotypes GO:0048298 9.43 MSH2 MLH1
9 isotype switching GO:0045190 9.43 MSH6 MSH2 MLH1
10 maintenance of DNA repeat elements GO:0043570 9.4 MSH6 MSH2
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 mismatch repair GO:0006298 9.26 PMS2 MSH6 MSH2 MLH1
14 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 15)
# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.72 MSH6 MSH2 MLH1
2 enzyme binding GO:0019899 9.7 MSH6 MSH2 MLH1
3 single-stranded DNA binding GO:0003697 9.63 PMS2 MSH2 MLH1
4 ATPase activity GO:0016887 9.62 PMS2 MSH6 MSH2 MLH1
5 damaged DNA binding GO:0003684 9.54 MSH6 MSH2
6 ADP binding GO:0043531 9.51 MSH6 MSH2
7 DNA-dependent ATPase activity GO:0008094 9.49 MSH6 MSH2
8 four-way junction DNA binding GO:0000400 9.48 MSH6 MSH2
9 MutSalpha complex binding GO:0032407 9.43 PMS2 MLH1
10 MutLalpha complex binding GO:0032405 9.4 MSH6 MSH2
11 oxidized purine DNA binding GO:0032357 9.37 MSH6 MSH2
12 single guanine insertion binding GO:0032142 9.26 MSH6 MSH2
13 single thymine insertion binding GO:0032143 9.16 MSH6 MSH2
14 guanine/thymine mispair binding GO:0032137 9.13 MSH6 MSH2 MLH1
15 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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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