SRXY6
MCID: 46X017
MIFTS: 27

46,xy Sex Reversal 6 (SRXY6)

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

Aliases & Classifications for 46,xy Sex Reversal 6

MalaCards integrated aliases for 46,xy Sex Reversal 6:

Name: 46,xy Sex Reversal 6 57 12 72 70
46,xy Sex Reversal, Type 6 29 6 39
Srxy6 57 12 72
46,xy Gonadal Dysgenesis, Partial or Complete, Map3k1-Related 57 12
46,xy Sex Reversal, Partial or Complete, Map3k1-Related 57 12
46xy Sex Reversal 6 57 13
46,xy Gonadal Dysgenesis Partial or Complete Map3k1-Related 72
46,xy Sex Reversal Partial or Complete Map3k1-Related 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
46,xx carriers are unaffected


HPO:

31
46,xy sex reversal 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111769
OMIM® 57 613762
OMIM Phenotypic Series 57 PS400044
MeSH 44 D006061
MedGen 41 C3151064
UMLS 70 C3151064

Summaries for 46,xy Sex Reversal 6

Disease Ontology : 12 A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has material basis in heterozygous mutation in MAP3K1 on chromosome 5q11.2.

MalaCards based summary : 46,xy Sex Reversal 6, is also known as 46,xy sex reversal, type 6. An important gene associated with 46,xy Sex Reversal 6 is MAP3K1 (Mitogen-Activated Protein Kinase Kinase Kinase 1). Affiliated tissues include uterus, testes and testis, and related phenotypes are hirsutism and clitoral hypertrophy

UniProtKB/Swiss-Prot : 72 46,XY sex reversal 6: A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females.

More information from OMIM: 613762 PS400044

Related Diseases for 46,xy Sex Reversal 6

Symptoms & Phenotypes for 46,xy Sex Reversal 6

Human phenotypes related to 46,xy Sex Reversal 6:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 hirsutism 31 occasional (7.5%) HP:0001007
2 clitoral hypertrophy 31 occasional (7.5%) HP:0008665
3 gonadoblastoma 31 HP:0000150
4 hypospadias 31 HP:0000047
5 sparse axillary hair 31 HP:0002215
6 sex reversal 31 HP:0012245
7 chordee 31 HP:0000041
8 dysgerminoma 31 HP:0100621

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neoplasia:
gonadoblastoma
dysgerminoma

Genitourinary Internal Genitalia Female:
streak ovaries
uterus hypoplastic to normal
fallopian tubes normal

Growth Height:
increased height in females

Genitourinary Internal Genitalia Male:
dysgenetic testes

Genitourinary External Genitalia Male:
chordee
hypospadias, penile
hypospadias, perineal
ambiguous male external genitalia (rare)

Skin Nails Hair Hair:
sparse axillary and pubic hair
hirsutism (rare)

Genitourinary External Genitalia Female:
normal-appearing female external genitalia
clitoromegaly (rare)

Clinical features from OMIM®:

613762 (Updated 05-Apr-2021)

Drugs & Therapeutics for 46,xy Sex Reversal 6

Search Clinical Trials , NIH Clinical Center for 46,xy Sex Reversal 6

Genetic Tests for 46,xy Sex Reversal 6

Genetic tests related to 46,xy Sex Reversal 6:

# Genetic test Affiliating Genes
1 46,xy Sex Reversal, Type 6 29 MAP3K1

Anatomical Context for 46,xy Sex Reversal 6

MalaCards organs/tissues related to 46,xy Sex Reversal 6:

40
Uterus, Testes, Testis

Publications for 46,xy Sex Reversal 6

Articles related to 46,xy Sex Reversal 6:

# Title Authors PMID Year
1
MAP3K1-related gonadal dysgenesis: Six new cases and review of the literature. 57 6
28504475 2017
2
Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination. 57 6
21129722 2010
3
46,XY gonadal dysgenesis: evidence for autosomal dominant transmission in a large kindred. 6 57
12476449 2003
4
Familial syndrome of streak gonads and normal male karyotype in five phenotypic females. 6 57
5419329 1970
5
Mapping a gene for 46,XY gonadal dysgenesis by linkage analysis. 57
12786760 2003
6
Pure gonadal dysgenesis. Studies of in vitro androgen metabolism. 57
4473892 1974
7
Familial XY gonadal dysgenesis. 57
4295620 1968

Variations for 46,xy Sex Reversal 6

ClinVar genetic disease variations for 46,xy Sex Reversal 6:

6 (show top 50) (show all 56)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MAP3K1 NM_005921.2(MAP3K1):c.1760T>A (p.Leu587His) SNV Pathogenic 430732 rs1131692186 GRCh37: 5:56170932-56170932
GRCh38: 5:56875105-56875105
2 MAP3K1 NM_005921.2(MAP3K1):c.566T>G (p.Leu189Arg) SNV Pathogenic 30147 rs387906788 GRCh37: 5:56152510-56152510
GRCh38: 5:56856683-56856683
3 MAP3K1 NM_005921.2(MAP3K1):c.566T>C (p.Leu189Pro) SNV Pathogenic 30146 rs387906788 GRCh37: 5:56152510-56152510
GRCh38: 5:56856683-56856683
4 MAP3K1 NM_005921.2(MAP3K1):c.634-8T>A SNV Pathogenic 30144 rs1131692053 GRCh37: 5:56155534-56155534
GRCh38: 5:56859707-56859707
5 MAP3K1 NM_005921.2(MAP3K1):c.1846G>A (p.Gly616Arg) SNV Pathogenic 30145 rs143853590 GRCh37: 5:56171018-56171018
GRCh38: 5:56875191-56875191
6 MAP3K1 NM_005921.2(MAP3K1):c.566T>A (p.Leu189Gln) SNV Pathogenic 430731 rs387906788 GRCh37: 5:56152510-56152510
GRCh38: 5:56856683-56856683
7 MAP3K1 NM_005921.2(MAP3K1):c.5CGG[5] (p.Ala5dup) Microsatellite Pathogenic 997563 GRCh37: 5:56111402-56111403
GRCh38: 5:56815575-56815576
8 MAP3K1 NM_005921.2(MAP3K1):c.770C>T (p.Pro257Leu) SNV Likely pathogenic 216959 rs56160159 GRCh37: 5:56155678-56155678
GRCh38: 5:56859851-56859851
9 MAP3K1 NM_005921.2(MAP3K1):c.556A>G (p.Arg186Gly) SNV Likely pathogenic 649338 rs1579750361 GRCh37: 5:56152500-56152500
GRCh38: 5:56856673-56856673
10 MAP3K1 NM_005921.2(MAP3K1):c.1016G>A (p.Arg339Gln) SNV Likely pathogenic 471688 rs1554034036 GRCh37: 5:56160742-56160742
GRCh38: 5:56864915-56864915
11 MAP3K1 NM_005921.2(MAP3K1):c.1923G>A (p.Met641Ile) SNV Likely pathogenic 268092 rs886041049 GRCh37: 5:56171095-56171095
GRCh38: 5:56875268-56875268
12 MAP3K1 NM_005921.2(MAP3K1):c.614G>A (p.Arg205Lys) SNV Uncertain significance 471694 rs768329767 GRCh37: 5:56152558-56152558
GRCh38: 5:56856731-56856731
13 MAP3K1 NM_005921.2(MAP3K1):c.1970C>G (p.Thr657Arg) SNV Uncertain significance 652027 rs1579775153 GRCh37: 5:56174811-56174811
GRCh38: 5:56878984-56878984
14 MAP3K1 NM_005921.2(MAP3K1):c.4327G>A (p.Ala1443Thr) SNV Uncertain significance 661215 rs559360433 GRCh37: 5:56184122-56184122
GRCh38: 5:56888295-56888295
15 MAP3K1 NM_005921.2(MAP3K1):c.1136C>T (p.Thr379Ile) SNV Uncertain significance 959411 GRCh37: 5:56161267-56161267
GRCh38: 5:56865440-56865440
16 MAP3K1 NM_005921.2(MAP3K1):c.2072G>A (p.Cys691Tyr) SNV Uncertain significance 471690 rs1554035463 GRCh37: 5:56174913-56174913
GRCh38: 5:56879086-56879086
17 MAP3K1 NM_005921.2(MAP3K1):c.4258-5T>C SNV Uncertain significance 581171 rs761483754 GRCh37: 5:56184048-56184048
GRCh38: 5:56888221-56888221
18 MAP3K1 NM_005921.2(MAP3K1):c.1558C>G (p.Gln520Glu) SNV Uncertain significance 639141 rs1579768504 GRCh37: 5:56168704-56168704
GRCh38: 5:56872877-56872877
19 MAP3K1 NM_005921.2(MAP3K1):c.86G>A (p.Gly29Glu) SNV Uncertain significance 645040 rs1581198964 GRCh37: 5:56111486-56111486
GRCh38: 5:56815659-56815659
20 MAP3K1 NM_005921.2(MAP3K1):c.44C>G (p.Pro15Arg) SNV Uncertain significance 1033045 GRCh37: 5:56111444-56111444
GRCh38: 5:56815617-56815617
21 MAP3K1 NM_005921.2(MAP3K1):c.1510G>A (p.Glu504Lys) SNV Uncertain significance 931588 GRCh37: 5:56168656-56168656
GRCh38: 5:56872829-56872829
22 MAP3K1 NM_005921.2(MAP3K1):c.2782_2784del (p.Ser928del) Deletion Uncertain significance 842507 GRCh37: 5:56177808-56177810
GRCh38: 5:56881981-56881983
23 MAP3K1 NM_005921.2(MAP3K1):c.3857A>T (p.Glu1286Val) SNV Likely benign 982900 GRCh37: 5:56180528-56180528
GRCh38: 5:56884701-56884701
24 MAP3K1 NM_005921.2(MAP3K1):c.138G>A (p.Glu46=) SNV Likely benign 767582 rs1051867310 GRCh37: 5:56111538-56111538
GRCh38: 5:56815711-56815711
25 MAP3K1 NM_005921.2(MAP3K1):c.3609C>T (p.Pro1203=) SNV Likely benign 471693 rs1554035881 GRCh37: 5:56178636-56178636
GRCh38: 5:56882809-56882809
26 MAP3K1 NM_005921.2(MAP3K1):c.2824_2826ACA[4] (p.Thr946_Thr949del) Microsatellite Likely benign 575794 rs5868032 GRCh37: 5:56177849-56177860
GRCh38: 5:56882022-56882033
27 MAP3K1 NM_005921.2(MAP3K1):c.934A>T (p.Met312Leu) SNV Likely benign 539063 rs376808920 GRCh37: 5:56160660-56160660
GRCh38: 5:56864833-56864833
28 MAP3K1 NM_005921.2(MAP3K1):c.2696A>G (p.Asn899Ser) SNV Likely benign 833601 GRCh37: 5:56177723-56177723
GRCh38: 5:56881896-56881896
29 MAP3K1 NM_005921.2(MAP3K1):c.1613A>G (p.Asn538Ser) SNV Likely benign 833940 GRCh37: 5:56168759-56168759
GRCh38: 5:56872932-56872932
30 MAP3K1 NM_005921.2(MAP3K1):c.81C>T (p.Gly27=) SNV Benign 471696 rs185050655 GRCh37: 5:56111481-56111481
GRCh38: 5:56815654-56815654
31 MAP3K1 NM_005921.2(MAP3K1):c.764A>G (p.Asn255Ser) SNV Benign 471695 rs56069227 GRCh37: 5:56155672-56155672
GRCh38: 5:56859845-56859845
32 MAP3K1 NM_005921.2(MAP3K1):c.2816C>G (p.Ser939Cys) SNV Benign 471692 rs45556841 GRCh37: 5:56177843-56177843
GRCh38: 5:56882016-56882016
33 MAP3K1 NM_005921.2(MAP3K1):c.1566C>T (p.Thr522=) SNV Benign 471689 rs2229882 GRCh37: 5:56168712-56168712
GRCh38: 5:56872885-56872885
34 MAP3K1 NM_005921.2(MAP3K1):c.1917G>A (p.Leu639=) SNV Benign 539065 rs2229883 GRCh37: 5:56171089-56171089
GRCh38: 5:56875262-56875262
35 MAP3K1 NM_005921.2(MAP3K1):c.483-18151A>G SNV Benign 539066 rs16886397 GRCh37: 5:56134276-56134276
GRCh38: 5:56838449-56838449
36 MAP3K1 NM_005921.2(MAP3K1):c.2665G>C (p.Val889Leu) SNV Benign 471691 rs56228802 GRCh37: 5:56177692-56177692
GRCh38: 5:56881865-56881865
37 MAP3K1 NM_005921.2(MAP3K1):c.3190A>C (p.Arg1064=) SNV Benign 518366 rs832583 GRCh37: 5:56178217-56178217
GRCh38: 5:56882390-56882390
38 MAP3K1 NM_005921.2(MAP3K1):c.2416G>A (p.Asp806Asn) SNV Benign 518364 rs702689 GRCh37: 5:56177443-56177443
GRCh38: 5:56881616-56881616
39 MAP3K1 NM_005921.2(MAP3K1):c.351G>C (p.Ala117=) SNV Benign 518361 rs28710284 GRCh37: 5:56111751-56111751
GRCh38: 5:56815924-56815924
40 MAP3K1 NM_005921.2(MAP3K1):c.483-11C>A SNV Benign 518362 rs832567 GRCh37: 5:56152416-56152416
GRCh38: 5:56856589-56856589
41 MAP3K1 NM_005921.2(MAP3K1):c.2716G>A (p.Val906Ile) SNV Benign 518365 rs832582 GRCh37: 5:56177743-56177743
GRCh38: 5:56881916-56881916
42 MAP3K1 NM_005921.2(MAP3K1):c.1284G>A (p.Thr428=) SNV Benign 518363 rs832575 GRCh37: 5:56161787-56161787
GRCh38: 5:56865960-56865960
43 MAP3K1 NM_005921.2(MAP3K1):c.233T>C (p.Leu78Pro) SNV Benign 771372 rs572205361 GRCh37: 5:56111633-56111633
GRCh38: 5:56815806-56815806
44 MAP3K1 NM_005921.2(MAP3K1):c.234C>T (p.Leu78=) SNV Benign 771373 rs542526689 GRCh37: 5:56111634-56111634
GRCh38: 5:56815807-56815807
45 MAP3K1 NM_005921.2(MAP3K1):c.720G>A (p.Ala240=) SNV Benign 772120 rs56279792 GRCh37: 5:56155628-56155628
GRCh38: 5:56859801-56859801
46 MAP3K1 NM_005921.2(MAP3K1):c.834+9A>G SNV Benign 772572 rs73135067 GRCh37: 5:56155751-56155751
GRCh38: 5:56859924-56859924
47 MAP3K1 NM_005921.2(MAP3K1):c.3498C>T (p.Thr1166=) SNV Benign 783157 rs200078723 GRCh37: 5:56178525-56178525
GRCh38: 5:56882698-56882698
48 MAP3K1 NM_005921.2(MAP3K1):c.394G>C (p.Asp132His) SNV Benign 767288 rs557606535 GRCh37: 5:56111794-56111794
GRCh38: 5:56815967-56815967
49 MAP3K1 NM_005921.2(MAP3K1):c.3588A>C (p.Ser1196=) SNV Benign 707147 rs55912465 GRCh37: 5:56178615-56178615
GRCh38: 5:56882788-56882788
50 MAP3K1 NM_005921.2(MAP3K1):c.165G>A (p.Ala55=) SNV Benign 707218 rs189140884 GRCh37: 5:56111565-56111565
GRCh38: 5:56815738-56815738

UniProtKB/Swiss-Prot genetic disease variations for 46,xy Sex Reversal 6:

72
# Symbol AA change Variation ID SNP ID
1 MAP3K1 p.Leu189Pro VAR_065504 rs387906788
2 MAP3K1 p.Leu189Arg VAR_065505 rs387906788
3 MAP3K1 p.Gly616Arg VAR_065507 rs143853590

Expression for 46,xy Sex Reversal 6

Search GEO for disease gene expression data for 46,xy Sex Reversal 6.

Pathways for 46,xy Sex Reversal 6

GO Terms for 46,xy Sex Reversal 6

Sources for 46,xy Sex Reversal 6

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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