MCID: 46X017
MIFTS: 20

46,xy Sex Reversal 6

Categories: Genetic 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 75 73
46,xy Sex Reversal, Type 6 29 6 40
46xy Sex Reversal 6 57 13
Srxy6 57 75
46,xy Gonadal Dysgenesis, Partial or Complete, Map3k1-Related 57
46,xy Gonadal Dysgenesis Partial or Complete Map3k1-Related 75
46,xy Sex Reversal, Partial or Complete, Map3k1-Related 57
46,xy Sex Reversal Partial or Complete Map3k1-Related 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
46,xx carriers are unaffected


HPO:

32
46,xy sex reversal 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 613762
MedGen 42 C3151064
MeSH 44 D006061
UMLS 73 C3151064

Summaries for 46,xy Sex Reversal 6

UniProtKB/Swiss-Prot : 75 46,XY sex reversal 6: A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females.

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 testes, ovary and uterus, and related phenotypes are gonadoblastoma and sex reversal

Description from OMIM: 613762

Related Diseases for 46,xy Sex Reversal 6

Symptoms & Phenotypes for 46,xy Sex Reversal 6

Symptoms via clinical synopsis from OMIM:

57
Neoplasia:
gonadoblastoma
dysgerminoma

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

Growth Height:
increased height in females

GenitourinaryInternal GenitaliaMale:
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

Human phenotypes related to 46,xy Sex Reversal 6:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 gonadoblastoma 32 HP:0000150
2 sex reversal 32 HP:0012245
3 sparse axillary hair 32 HP:0002215
4 hirsutism 32 occasional (7.5%) HP:0001007
5 chordee 32 HP:0000041
6 clitoral hypertrophy 32 occasional (7.5%) HP:0008665
7 dysgerminoma 32 HP:0100621

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:

41
Testes, Ovary, Uterus

Publications for 46,xy Sex Reversal 6

Variations for 46,xy Sex Reversal 6

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

75
# 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

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

6
(show top 50) (show all 56)
# Gene Variation Type Significance SNP ID Assembly Location
1 MAP3K1 NM_005921.1(MAP3K1): c.634-8T> A single nucleotide variant Pathogenic rs1131692053 GRCh37 Chromosome 5, 56155534: 56155534
2 MAP3K1 NM_005921.1(MAP3K1): c.634-8T> A single nucleotide variant Pathogenic rs1131692053 GRCh38 Chromosome 5, 56859707: 56859707
3 MAP3K1 NM_005921.1(MAP3K1): c.1846G> A (p.Gly616Arg) single nucleotide variant Pathogenic rs143853590 GRCh38 Chromosome 5, 56875191: 56875191
4 MAP3K1 NM_005921.1(MAP3K1): c.1846G> A (p.Gly616Arg) single nucleotide variant Pathogenic rs143853590 GRCh37 Chromosome 5, 56171018: 56171018
5 MAP3K1 NM_005921.1(MAP3K1): c.566T> C (p.Leu189Pro) single nucleotide variant Pathogenic rs387906788 GRCh37 Chromosome 5, 56152510: 56152510
6 MAP3K1 NM_005921.1(MAP3K1): c.566T> C (p.Leu189Pro) single nucleotide variant Pathogenic rs387906788 GRCh38 Chromosome 5, 56856683: 56856683
7 MAP3K1 NM_005921.1(MAP3K1): c.566T> G (p.Leu189Arg) single nucleotide variant Pathogenic rs387906788 GRCh37 Chromosome 5, 56152510: 56152510
8 MAP3K1 NM_005921.1(MAP3K1): c.566T> G (p.Leu189Arg) single nucleotide variant Pathogenic rs387906788 GRCh38 Chromosome 5, 56856683: 56856683
9 MAP3K1 NM_005921.1(MAP3K1): c.770C> T (p.Pro257Leu) single nucleotide variant Likely pathogenic rs56160159 GRCh38 Chromosome 5, 56859851: 56859851
10 MAP3K1 NM_005921.1(MAP3K1): c.770C> T (p.Pro257Leu) single nucleotide variant Likely pathogenic rs56160159 GRCh37 Chromosome 5, 56155678: 56155678
11 MAP3K1 NM_005921.1(MAP3K1): c.1923G> A (p.Met641Ile) single nucleotide variant Likely pathogenic rs886041049 GRCh38 Chromosome 5, 56875268: 56875268
12 MAP3K1 NM_005921.1(MAP3K1): c.1923G> A (p.Met641Ile) single nucleotide variant Likely pathogenic rs886041049 GRCh37 Chromosome 5, 56171095: 56171095
13 MAP3K1 NM_005921.1(MAP3K1): c.566T> A (p.Leu189Gln) single nucleotide variant Likely pathogenic rs387906788 GRCh38 Chromosome 5, 56856683: 56856683
14 MAP3K1 NM_005921.1(MAP3K1): c.566T> A (p.Leu189Gln) single nucleotide variant Likely pathogenic rs387906788 GRCh37 Chromosome 5, 56152510: 56152510
15 MAP3K1 NM_005921.1(MAP3K1): c.1760T> A (p.Leu587His) single nucleotide variant Pathogenic rs1131692186 GRCh37 Chromosome 5, 56170932: 56170932
16 MAP3K1 NM_005921.1(MAP3K1): c.1760T> A (p.Leu587His) single nucleotide variant Pathogenic rs1131692186 GRCh38 Chromosome 5, 56875105: 56875105
17 MAP3K1 NM_005921.1(MAP3K1): c.2845_2847delACA (p.Thr949del) deletion Benign rs398064829 GRCh38 Chromosome 5, 56882045: 56882047
18 MAP3K1 NM_005921.1(MAP3K1): c.2845_2847delACA (p.Thr949del) deletion Benign rs398064829 GRCh37 Chromosome 5, 56177872: 56177874
19 MAP3K1 NM_005921.1(MAP3K1): c.614G> A (p.Arg205Lys) single nucleotide variant Uncertain significance rs768329767 GRCh38 Chromosome 5, 56856731: 56856731
20 MAP3K1 NM_005921.1(MAP3K1): c.614G> A (p.Arg205Lys) single nucleotide variant Uncertain significance rs768329767 GRCh37 Chromosome 5, 56152558: 56152558
21 MAP3K1 NM_005921.1(MAP3K1): c.1566C> T (p.Thr522=) single nucleotide variant Benign rs2229882 GRCh37 Chromosome 5, 56168712: 56168712
22 MAP3K1 NM_005921.1(MAP3K1): c.1566C> T (p.Thr522=) single nucleotide variant Benign rs2229882 GRCh38 Chromosome 5, 56872885: 56872885
23 MAP3K1 NM_005921.1(MAP3K1): c.81C> T (p.Gly27=) single nucleotide variant Benign rs185050655 GRCh38 Chromosome 5, 56815654: 56815654
24 MAP3K1 NM_005921.1(MAP3K1): c.81C> T (p.Gly27=) single nucleotide variant Benign rs185050655 GRCh37 Chromosome 5, 56111481: 56111481
25 MAP3K1 NM_005921.1(MAP3K1): c.764A> G (p.Asn255Ser) single nucleotide variant Benign rs56069227 GRCh37 Chromosome 5, 56155672: 56155672
26 MAP3K1 NM_005921.1(MAP3K1): c.764A> G (p.Asn255Ser) single nucleotide variant Benign rs56069227 GRCh38 Chromosome 5, 56859845: 56859845
27 MAP3K1 NM_005921.1(MAP3K1): c.2072G> A (p.Cys691Tyr) single nucleotide variant Uncertain significance GRCh37 Chromosome 5, 56174913: 56174913
28 MAP3K1 NM_005921.1(MAP3K1): c.2072G> A (p.Cys691Tyr) single nucleotide variant Uncertain significance GRCh38 Chromosome 5, 56879086: 56879086
29 MAP3K1 NM_005921.1(MAP3K1): c.2816C> G (p.Ser939Cys) single nucleotide variant Benign rs45556841 GRCh37 Chromosome 5, 56177843: 56177843
30 MAP3K1 NM_005921.1(MAP3K1): c.2816C> G (p.Ser939Cys) single nucleotide variant Benign rs45556841 GRCh38 Chromosome 5, 56882016: 56882016
31 MAP3K1 NM_005921.1(MAP3K1): c.1016G> A (p.Arg339Gln) single nucleotide variant Likely pathogenic GRCh37 Chromosome 5, 56160742: 56160742
32 MAP3K1 NM_005921.1(MAP3K1): c.1016G> A (p.Arg339Gln) single nucleotide variant Likely pathogenic GRCh38 Chromosome 5, 56864915: 56864915
33 MAP3K1 NM_005921.1(MAP3K1): c.2665G> C (p.Val889Leu) single nucleotide variant Benign rs56228802 GRCh38 Chromosome 5, 56881865: 56881865
34 MAP3K1 NM_005921.1(MAP3K1): c.2665G> C (p.Val889Leu) single nucleotide variant Benign rs56228802 GRCh37 Chromosome 5, 56177692: 56177692
35 MAP3K1 NM_005921.1(MAP3K1): c.3609C> T (p.Pro1203=) single nucleotide variant Likely benign GRCh38 Chromosome 5, 56882809: 56882809
36 MAP3K1 NM_005921.1(MAP3K1): c.3609C> T (p.Pro1203=) single nucleotide variant Likely benign GRCh37 Chromosome 5, 56178636: 56178636
37 MAP3K1 NM_005921.1(MAP3K1): c.351G> C (p.Ala117=) single nucleotide variant Benign rs28710284 GRCh37 Chromosome 5, 56111751: 56111751
38 MAP3K1 NM_005921.1(MAP3K1): c.351G> C (p.Ala117=) single nucleotide variant Benign rs28710284 GRCh38 Chromosome 5, 56815924: 56815924
39 MAP3K1 NM_005921.1(MAP3K1): c.483-11C> A single nucleotide variant Benign rs832567 GRCh38 Chromosome 5, 56856589: 56856589
40 MAP3K1 NM_005921.1(MAP3K1): c.483-11C> A single nucleotide variant Benign rs832567 GRCh37 Chromosome 5, 56152416: 56152416
41 MAP3K1 NM_005921.1(MAP3K1): c.1284G> A (p.Thr428=) single nucleotide variant Benign rs832575 GRCh38 Chromosome 5, 56865960: 56865960
42 MAP3K1 NM_005921.1(MAP3K1): c.1284G> A (p.Thr428=) single nucleotide variant Benign rs832575 GRCh37 Chromosome 5, 56161787: 56161787
43 MAP3K1 NM_005921.1(MAP3K1): c.2416G> A (p.Asp806Asn) single nucleotide variant Benign rs702689 GRCh37 Chromosome 5, 56177443: 56177443
44 MAP3K1 NM_005921.1(MAP3K1): c.2416G> A (p.Asp806Asn) single nucleotide variant Benign rs702689 GRCh38 Chromosome 5, 56881616: 56881616
45 MAP3K1 NM_005921.1(MAP3K1): c.2716G> A (p.Val906Ile) single nucleotide variant Benign rs832582 GRCh38 Chromosome 5, 56881916: 56881916
46 MAP3K1 NM_005921.1(MAP3K1): c.2716G> A (p.Val906Ile) single nucleotide variant Benign rs832582 GRCh37 Chromosome 5, 56177743: 56177743
47 MAP3K1 NM_005921.1(MAP3K1): c.3190A> C (p.Arg1064=) single nucleotide variant Benign rs832583 GRCh38 Chromosome 5, 56882390: 56882390
48 MAP3K1 NM_005921.1(MAP3K1): c.3190A> C (p.Arg1064=) single nucleotide variant Benign rs832583 GRCh37 Chromosome 5, 56178217: 56178217
49 MAP3K1 NM_005921.1(MAP3K1): c.934A> T (p.Met312Leu) single nucleotide variant Uncertain significance rs376808920 GRCh37 Chromosome 5, 56160660: 56160660
50 MAP3K1 NM_005921.1(MAP3K1): c.934A> T (p.Met312Leu) single nucleotide variant Uncertain significance rs376808920 GRCh38 Chromosome 5, 56864833: 56864833

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

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