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

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

Classifications:

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 top 50) (show all 83)

#	Related Disease	Score	Top Affiliating Genes
1	spindle cell intraocular melanoma	10.0	PMS2 MLH1
2	colorectal cancer, hereditary nonpolyposis, type 4	10.0	PMS2 MLH1
3	ascending colon cancer	9.9	MSH2 MLH1
4	lower lip cancer	9.9	MSH2 MLH1
5	anal fistula	9.9	MSH2 MLH1
6	melanocytic nevus syndrome, congenital	9.9	MSH2 MLH1
7	duodenum disease	9.9	MSH2 MLH1
8	ureter, cancer of	9.9	MSH2 MLH1
9	cecum carcinoma	9.9	MSH2 MLH1
10	familial colorectal cancer	9.8	MSH2 MLH1
11	signet ring cell adenocarcinoma	9.8	MSH2 MLH1
12	keratoacanthoma	9.8	MSH2 MLH1
13	alveolar soft part sarcoma	9.8	MSH2 MLH1
14	skin melanoma	9.8	PMS2 MLH1
15	jejunal adenocarcinoma	9.8	MSH6 MLH1
16	periampullary adenoma	9.8	PMS2 MSH6
17	ovary adenocarcinoma	9.8	MSH2 MLH1
18	fallopian tube endometrioid adenocarcinoma	9.7	PMS2 MSH6
19	colorectal adenoma	9.7	MSH2 MLH1
20	attenuated familial adenomatous polyposis	9.7	MSH6 MSH2
21	cervical mucinous adenocarcinoma	9.7	MSH6 MSH2
22	uterine corpus cancer	9.7	MSH6 MLH1
23	legius syndrome	9.7	MSH6 MSH2
24	rectum signet ring adenocarcinoma	9.6	PMS2 MSH2 MLH1
25	uterine carcinosarcoma	9.5	MSH2 MLH1
26	adenoma	9.4	MSH6 MSH2 MLH1
27	renal pelvis transitional cell carcinoma	9.4	MSH6 MSH2 MLH1
28	cervical adenoma malignum	9.3	MSH6 MSH2 MLH1
29	autosomal dominant non-syndromic intellectual disability 8	9.3	MSH6 MSH2 MLH1
30	mental retardation, autosomal dominant 20	9.3	MSH6 MSH2 MLH1
31	dysplastic nevus syndrome	9.3	MSH6 MSH2 MLH1
32	skin benign neoplasm	9.3	MSH6 MSH2 MLH1
33	endometrial hyperplasia	9.3	MSH6 MSH2 MLH1
34	rectum cancer	9.3	MSH6 MSH2 MLH1
35	cell type benign neoplasm	9.3	MSH6 MSH2 MLH1
36	familial adenomatous polyposis	9.3	MSH6 MSH2 MLH1
37	ulcerative colitis	9.3	MSH6 MSH2 MLH1
38	colitis	9.3	MSH6 MSH2 MLH1
39	glioblastoma multiforme	9.3	PMS2 MSH2 MLH1
40	rhabdomyosarcoma	9.2	PMS2 MSH6 MSH2
41	xeroderma pigmentosum, variant type	9.2	MSH6 MSH2 MLH1
42	ocular cancer	9.2	MSH6 MSH2
43	brain cancer	9.1	PMS2 MSH6 MSH2
44	colon adenocarcinoma	9.1	PMS2 MSH6 MLH1 EPCAM
45	adenocarcinoma	9.0	MSH6 MSH2 MLH1 EPCAM
46	lymphoma	9.0	PMS2 MSH6 MSH2
47	adenosquamous colon carcinoma	9.0	PMS2 MSH6 MSH2 MLH1
48	extrahepatic bile duct adenoma	9.0	PMS2 MSH6 MSH2 MLH1
49	appendix carcinoid tumor	9.0	PMS2 MSH6 MSH2 MLH1
50	jejunal cancer	9.0	PMS2 MSH6 MSH2 MLH1

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	EPCAM	Epithelial Cell Adhesion Molecule	Protein Coding	400	Pathogenic 6
2	MLH1	MutL Homolog 1	Protein Coding	400	Pathogenic 6 Pathogenic/Likely pathogenic 6
3	MSH2	MutS Homolog 2	Protein Coding	400	Pathogenic 6 Pathogenic/Likely pathogenic 6
4	MSH6	MutS Homolog 6	Protein Coding	400	Pathogenic 6 Pathogenic/Likely pathogenic 6
5	PMS2	PMS1 Homolog 2, Mismatch Repair System Component	Protein Coding	400	Pathogenic 6 Pathogenic/Likely pathogenic 6

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

⁶ (show top 50) (show all 4787) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	EPCAM	NM_002354.2(EPCAM):c.556-14A>G	SNV	Pathogenic	157603	rs376155665	2:47606078-47606078	2:47378939-47378939
2	MSH6	NM_001281492.1(MSH6):c.1315_1316del (p.Phe439fs)	deletion	Pathogenic	156507	rs587783056	2:48026824-48026825	2:47799685-47799686
3	MSH6	NM_000179.2(MSH6):c.1805C>G (p.Ser602Ter)	SNV	Pathogenic	182659	rs730881816	2:48026927-48026927	2:47799788-47799788
4	MSH6	NM_000179.2(MSH6):c.2832_2833del (p.Ile944fs)	deletion	Pathogenic	182680	rs730881827	2:48027954-48027955	2:47800815-47800816
5	MLH1	NM_000249.3(MLH1):c.209_215delAAGAAGA	deletion	Pathogenic	182513	rs730881734	3:37042444-37042450	3:37000953-37000959
6	MLH1	NM_000249.3(MLH1):c.2065C>T (p.Gln689Ter)	SNV	Pathogenic	182529	rs41542214	3:37090470-37090470	3:37048979-37048979
7	PMS2	NM_000535.7(PMS2):c.2T>A (p.Met1Lys)	SNV	Pathogenic	182809	rs587780059	7:6048649-6048649	7:6009018-6009018
8	MSH2	NM_000251.2(MSH2):c.1351C>T (p.Gln451Ter)	SNV	Pathogenic	183761	rs786201066	2:47672761-47672761	2:47445622-47445622
9	MSH6	NM_000179.2(MSH6):c.578del (p.Leu193fs)	deletion	Pathogenic	183724	rs587782281	2:48023152-48023152	2:47796013-47796013
10	MSH6	NM_001281492.1(MSH6):c.1689dup (p.Cys564fs)	duplication	Pathogenic	187516	rs267608083	2:48027195-48027196	2:47800056-47800057
11	MSH6	NM_000179.2(MSH6):c.2906_2907del (p.Tyr969fs)	deletion	Pathogenic	187691	rs786203924	2:48028027-48028028	2:47800888-47800889
12	MSH6	NM_001281492.1(MSH6):c.3172_3175dup (p.Thr1059fs)	duplication	Pathogenic	186929	rs786203331	2:48032760-48032761	2:47805621-47805622
13	MSH6	NM_000179.2(MSH6):c.3743_3744insT (p.Tyr1249fs)	insertion	Pathogenic	183794	rs786201084	2:48033439-48033440	2:47806300-47806301
14	MSH6	NM_001281492.1(MSH6):c.3590_3593dup (p.Leu1200fs)	duplication	Pathogenic	184998	rs1553333738	2:48033767-48033768	2:47806628-47806629
15	PMS2	NM_000535.7(PMS2):c.2156del (p.Gln719fs)	deletion	Pathogenic	183755	rs786201062	7:6022473-6022473	7:5982842-5982842
16	PMS2	NM_000535.7(PMS2):c.1874del (p.Ser624_Leu625insTer)	deletion	Pathogenic	186596	rs786203073	7:6026522-6026522	7:5986891-5986891
17	PMS2	NM_000535.7(PMS2):c.853_856ACAG[1] (p.Asp286fs)	short repeat	Pathogenic	183860	rs267608154	7:6035204-6035211	7:5995573-5995580
18	PMS2	NM_000535.7(PMS2):c.809C>G (p.Ser270Ter)	SNV	Pathogenic	183732	rs786201047	7:6035259-6035259	7:5995628-5995628
19	PMS2	NM_000535.7(PMS2):c.765C>A (p.Tyr255Ter)	SNV	Pathogenic	183716	rs573125799	7:6036995-6036995	7:5997364-5997364
20	MSH6	NM_000179.2(MSH6):c.1108_1109delTT (p.Leu370Argfs)	deletion	Pathogenic	188393	rs786204252	2:48026229-48026230	2:47799090-47799091
21	MSH6	NM_000179.2(MSH6):c.1045C>T (p.Gln349Ter)	SNV	Pathogenic	216042	rs863224473	2:48026167-48026167	2:47799028-47799028
22	PMS2	NM_000535.7(PMS2):c.1638_1639del (p.Ser547fs)	deletion	Pathogenic	216075	rs863224498	7:6026757-6026758	7:5987126-5987127
23	PMS2	NM_000535.7(PMS2):c.1239dup (p.Asp414fs)	duplication	Pathogenic	216072	rs267608159	7:6027156-6027157	7:5987525-5987526
24	MSH2	NM_000251.2(MSH2):c.2236dup (p.Ile746fs)	duplication	Pathogenic	218042	rs863225392	2:47705434-47705435	2:47478295-47478296
25	MSH2	NM_000251.2(MSH2):c.2297del (p.Ile766fs)	deletion	Pathogenic	218044	rs863225394	2:47705497-47705497	2:47478358-47478358
26	MSH2	NM_000251.2(MSH2):c.2300C>G (p.Ser767Ter)	SNV	Pathogenic	218045	rs863225395	2:47705500-47705500	2:47478361-47478361
27	MSH2	NM_000251.2(MSH2):c.1481C>G (p.Ser494Ter)	SNV	Pathogenic	218037	rs370970617	2:47690264-47690264	2:47463125-47463125
28	MSH6	NM_001281493.1(MSH6):c.-7dup	duplication	Pathogenic	218080	rs863225421	2:48026020-48026021	2:47798881-47798882
29	MSH6	NM_000179.2(MSH6):c.3238_3239del (p.Leu1080fs)	deletion	Pathogenic	218060	rs863225406	2:48030623-48030624	2:47803484-47803485
30	MSH6	NM_001281492.1(MSH6):c.2942_2945dup (p.Asp982delinsGluTer)	duplication	Pathogenic	218061	rs587782562	2:48030716-48030717	2:47803577-47803578
31	MSH6	NM_000179.2(MSH6):c.3528_3532del (p.Leu1177fs)	deletion	Pathogenic	218062	rs863225408	2:48032137-48032141	2:47804998-47805002
32	MLH1	NM_001354621.1(MLH1):c.-139-2802del	deletion	Pathogenic	218027	rs863225384	3:37058999-37058999	3:37017508-37017508
33	MLH1	NM_001354630.1(MLH1):c.1732-940_1732-939delinsATCTGGACC	indel	Pathogenic	218018	rs863225378	3:37089068-37089069	3:37047577-37047578
34	MSH6	NM_000179.2(MSH6):c.3632T>C (p.Leu1211Pro)	SNV	Pathogenic	219294	rs864622041	2:48032832-48032832	2:47805693-47805693
35	MSH2	NM_000251.2(MSH2):c.421_422delAT	short repeat	Pathogenic	220510	rs1553350680	2:47637285-47637286	2:47410146-47410147
36	MSH2	NM_000251.2(MSH2):c.748G>T (p.Gly250Ter)	SNV	Pathogenic	219627	rs864622183	2:47639655-47639655	2:47412516-47412516
37	MSH2	NM_000251.2(MSH2):c.1563T>A (p.Tyr521Ter)	SNV	Pathogenic	220417	rs63750330	2:47693849-47693849	2:47466710-47466710
38	MSH2	NM_000251.2(MSH2):c.1023del (p.Val342fs)	deletion	Pathogenic	220006	rs864622340	2:47643514-47643514	2:47416375-47416375
39	MSH6	NM_000179.2(MSH6):c.1387G>T (p.Glu463Ter)	SNV	Pathogenic	220241	rs864622435	2:48026509-48026509	2:47799370-47799370
40	MSH6	NM_001281492.1(MSH6):c.1918_1922delinsT (p.Gly640fs)	indel	Pathogenic	220570	rs864622585	2:48027430-48027434	2:47800291-47800295
41	MLH1	NM_000249.3(MLH1):c.1246A>T (p.Lys416Ter)	SNV	Pathogenic	220069	rs267607823	3:37067335-37067335	3:37025844-37025844
42	MSH6	NM_001281492.1(MSH6):c.962del (p.Phe321fs)	deletion	Pathogenic	224534	rs869312769	2:48026473-48026473	2:47799334-47799334
43	MLH1	NM_001167617.2(MLH1):c.-492_-491delinsTA	indel	Pathogenic	224532	rs869312767	3:37035063-37035064	3:36993572-36993573
44	PMS2	NM_000535.7(PMS2):c.1500del (p.Val501fs)	deletion	Pathogenic	224541	rs759151952	7:6026896-6026896	7:5987265-5987265
45	MSH2	NM_000251.2(MSH2):c.1384C>T (p.Gln462Ter)	SNV	Pathogenic	228365	rs876657701	2:47672794-47672794	2:47445655-47445655
46	MSH6	NM_000179.2(MSH6):c.599C>G (p.Ser200Ter)	SNV	Pathogenic	234621	rs63751077	2:48023174-48023174	2:47796035-47796035
47	MSH6	NM_000179.2(MSH6):c.1969del (p.Gln657fs)	deletion	Pathogenic	234761	rs876661205	2:48027088-48027088	2:47799949-47799949
48	MSH6	NM_000179.2(MSH6):c.2269_2270del (p.Thr757fs)	deletion	Pathogenic	234448	rs876661025	2:48027391-48027392	2:47800252-47800253
49	MSH6	NM_000179.2(MSH6):c.3491dup (p.Cys1165fs)	duplication	Pathogenic	234542	rs876661073	2:48032100-48032101	2:47804961-47804962
50	PMS2	NM_000535.7(PMS2):c.2445+1G>T	SNV	Pathogenic	234604	rs876661113	7:6017218-6017218	7:5977587-5977587

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

(show all 16)

#	Super pathways	Score	Top Affiliating Genes
1	DNA Double-Strand Break Repair 65 Show member pathways Chk1/Chk2(Cds1) mediated inactivation of Cyclin B-Cdk1 complex 65 DNA damage_DNA-damage-induced responses 22 DNA Repair 65 G2/M DNA damage checkpoint 65 HDR through Homologous Recombination (HR) or Single Strand Annealing (SSA) 65 HDR through MMEJ (alt-NHEJ) 65 Homology Directed Repair 65 Non-homologous end joining 1 Non-homologous end-joining 36 Processing of DNA double-strand break ends 65	12.67	PMS2 MSH6 MSH2 MLH1
2	Regulation of TP53 Activity 65 Show member pathways Regulation of TP53 Activity through Association with Co-factors 65 Regulation of TP53 Activity through Methylation 65 Regulation of TP53 Activity through Phosphorylation 65 Transcriptional Regulation by TP53 65	12.55	PMS2 MSH2 MLH1
3	TCR Signaling (Qiagen) 63 Show member pathways Fc-EpsilonRI Pathway 63 ITK and TCR Signaling 63 PKC-Theta Pathway 63 TCR Signaling 63	12.5	MSH6 MSH2 MLH1
4	Endometrial cancer 36 Show member pathways Acute myeloid leukemia 36 Binding of TCF/LEF-CTNNB1 to target gene promoters 65 Chronic myeloid leukemia 36 Colorectal cancer 36 Pancreatic cancer 36 Prostate cancer 36 Signal transduction PTEN pathway 22 Thyroid cancer 36	12.43	MSH6 MSH2 MLH1
5	Pathways in cancer 36	12.4	MSH6 MSH2 MLH1
6	DNA Damage 4	12.05	MSH6 MSH2 MLH1
7	Colorectal Cancer Metastasis 63	11.72	MSH6 MSH2 MLH1
8	Direct p53 effectors 1	11.55	PMS2 MSH2 MLH1
9	Fanconi anemia pathway 36 65	11.5	PMS2 MLH1
10	BRCA1 Pathway 63 Show member pathways Fanconi's Anaemia Pathway 63	11.44	MSH6 MSH2
11	Mismatch repair 65 1 36 Show member pathways Mismatch repair (MMR) directed by MSH2-MSH3 (MutSbeta) 65 Mismatch repair (MMR) directed by MSH2-MSH6 (MutSalpha) 65 Mismatch Repair in Eukaryotes 63	11.23	PMS2 MSH6 MSH2 MLH1
12	Platinum drug resistance 36	11.2	MSH6 MSH2 MLH1
13	Integrated Cancer Pathway 1	11.14	MSH6 MSH2
14	Busulfan Pathway, Pharmacodynamics 60 Show member pathways Catalytic cycle of mammalian Flavin-containing MonoOxygenases (FMOs) 1 FMO oxidises nucleophiles 65	11.1	MSH2 MLH1
15	Doxorubicin Pathway, Pharmacokinetics 60 Show member pathways Doxorubicin Pathway (Cancer Cell), Pharmacodynamics 60	11.03	MSH2 MLH1
16	Platinum Pathway, Pharmacokinetics/Pharmacodynamics 60	10.39	PMS2 MSH6 MSH2 MLH1