SRXX2
MCID: 46X048
MIFTS: 27

46,xx Sex Reversal 2 (SRXX2)

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

Aliases & Classifications for 46,xx Sex Reversal 2

MalaCards integrated aliases for 46,xx Sex Reversal 2:

Name: 46,xx Sex Reversal 2 57 12 72 29 6 70
Srxx2 57 12 72
46xx Sex Reversal 2 57 13
46,xx Sex Reversal Partial or Complete Sox9-Related 72
Chromosome 17q24 Duplication Syndrome 57
Chromosome 17q24 Dupication Syndrome 12
46,xx Sex Reversal, Type 2 39

Characteristics:

OMIM®:

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

Miscellaneous:
46,xy carriers are unaffected


HPO:

31
46,xx sex reversal 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111763
OMIM® 57 278850
MeSH 44 D058531
MedGen 41 C2749215
UMLS 70 C2749215

Summaries for 46,xx Sex Reversal 2

Disease Ontology : 12 A 46,XX sex reversal that has material basis in heterozygous duplication or triplication of a 68-kb regulatory region -584 to -516 kb upstream of the SOX9 gene on chromosome 17q24.

MalaCards based summary : 46,xx Sex Reversal 2, is also known as srxx2. An important gene associated with 46,xx Sex Reversal 2 is SRXX2 (46XX Sex Reversal 2). Affiliated tissues include uterus, testes and testis, and related phenotypes are ovotestis and micropenis

UniProtKB/Swiss-Prot : 72 46,XX sex reversal 2: A condition in which male gonads develop in a genetic female (female to male sex reversal).

More information from OMIM: 278850

Related Diseases for 46,xx Sex Reversal 2

Symptoms & Phenotypes for 46,xx Sex Reversal 2

Human phenotypes related to 46,xx Sex Reversal 2:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 ovotestis 31 occasional (7.5%) HP:0012861
2 micropenis 31 HP:0000054
3 bifid scrotum 31 HP:0000048
4 azoospermia 31 HP:0000027
5 scrotal hypoplasia 31 HP:0000046
6 true hermaphroditism 31 HP:0010459
7 perineal hypospadias 31 HP:0000051
8 hypoplasia of the uterus 31 HP:0000013
9 hypoplasia of the vagina 31 HP:0008726
10 sex reversal 31 HP:0012245
11 decreased serum testosterone level 31 HP:0040171

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary External Genitalia Male:
bifid scrotum
perineal hypospadias
hypoplastic scrotum
small penis
phenotypically normal male (in some patients)
more
Genitourinary Internal Genitalia Female:
rudimentary uterus
primordial follicles
fallopian tube structures
streak gonad
ovarian remnant
more
Chest Breasts:
mild gynecomastia (in some patients)

Genitourinary Internal Genitalia Male:
azoospermia
atrophic seminiferous tubules
normal to small testes (in some patients)
ovotestis (in some patients)
leydig cells present
more
Endocrine Features:
elevated follicle-stimulating hormone (fsh) levels
low serum testosterone levels
elevated luteinizing hormone (lh) levels
low anti-mullerian hormone (amh) levels

Skeletal:
normal skeletal development

Clinical features from OMIM®:

278850 (Updated 05-Apr-2021)

Drugs & Therapeutics for 46,xx Sex Reversal 2

Search Clinical Trials , NIH Clinical Center for 46,xx Sex Reversal 2

Genetic Tests for 46,xx Sex Reversal 2

Genetic tests related to 46,xx Sex Reversal 2:

# Genetic test Affiliating Genes
1 46,xx Sex Reversal 2 29

Anatomical Context for 46,xx Sex Reversal 2

MalaCards organs/tissues related to 46,xx Sex Reversal 2:

40
Uterus, Testes, Testis

Publications for 46,xx Sex Reversal 2

Articles related to 46,xx Sex Reversal 2:

(show all 19)
# Title Authors PMID Year
1
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development. 6 57
22051515 2011
2
XX males SRY negative: a confirmed cause of infertility. 6 57
21653197 2011
3
A SOX9 duplication and familial 46,XX developmental testicular disorder. 6 57
21208124 2011
4
Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9. 6
30552336 2018
5
A duplication upstream of SOX9 was not positively correlated with the SRY‑negative 46,XX testicular disorder of sex development: A case report and literature review. 57
26260363 2015
6
Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development. 57
25604083 2015
7
Genetics of sexual development: a new paradigm. 57
18000910 2007
8
Autosomal XX sex reversal caused by duplication of SOX9. 57
10588843 1999
9
An autosomal or X linked mutation results in true hermaphrodites and 46,XX males in the same family. 57
9475089 1998
10
Familial true hermaphroditism: paternal and maternal transmission of true hermaphroditism (46,XX) and XX maleness in the absence of Y-chromosomal sequences. 57
8262517 1993
11
Familial 46,XX males coexisting with familial 46,XX true hermaphrodites in same pedigree. 57
3806296 1987
12
The Y-chromosomal and autosomal testis-determining genes. 57
3503720 1987
13
Steroid sulphatase levels in XX males, including observations on two affected cousins. 57
10819031 1981
14
Genetic basis of XX male syndrome and XX true hermaphroditism: evidence in the dog. 57
675252 1978
15
Paternal transmission of maleness in XX human beings. 57
4685451 1973
16
Analytic review: nature and origin of males with XX sex chromosomes. 57
4622299 1972
17
Sex-reversed mice: XX and XO males. 57
5156366 1971
18
[True hermaphroditism and "XX boy" in a sibship]. 57
5447060 1970
19
Genetic intersexuality in goats. 57
5272213 1969

Variations for 46,xx Sex Reversal 2

ClinVar genetic disease variations for 46,xx Sex Reversal 2:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SOX9 SOX9, 178-KB DUP, UPSTREAM REGULATORY REGION Duplication Pathogenic 30708 GRCh37:
GRCh38:
2 SOX9 SOX9, 96-KB TRIPLICATION, UPSTREAM REGULATORY REGION Variation Pathogenic 192386 GRCh37:
GRCh38:
3 SOX9 NC_000017.10:g.69521863_69670036dup Duplication Pathogenic 192387 GRCh37:
GRCh38:
4 SOX9 GRCh37/hg19 17q24.3(chr17:69458883-69482850)x3 copy number gain Pathogenic 599355 GRCh37: 17:69393372-69483073
GRCh38:
5 SOX9 GRCh37/hg19 17q24.3(chr17:69475275-69499520)x3 copy number gain Pathogenic 599356 GRCh37: 17:69458943-69499834
GRCh38:

Expression for 46,xx Sex Reversal 2

Search GEO for disease gene expression data for 46,xx Sex Reversal 2.

Pathways for 46,xx Sex Reversal 2

GO Terms for 46,xx Sex Reversal 2

Sources for 46,xx Sex Reversal 2

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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