SRXY10
MCID: 46X058
MIFTS: 23

46,xy Sex Reversal 10 (SRXY10)

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

Aliases & Classifications for 46,xy Sex Reversal 10

MalaCards integrated aliases for 46,xy Sex Reversal 10:

Name: 46,xy Sex Reversal 10 57 12 72 6
Chromosome 17q24 Deletion Syndrome 57 12 72
Srxy10 57 12 72
46xy Sex Reversal 10 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
46,xx carriers are unaffected


HPO:

31
46,xy sex reversal 10:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111775
OMIM® 57 616425
OMIM Phenotypic Series 57 PS400044
MeSH 44 D006061

Summaries for 46,xy Sex Reversal 10

OMIM® : 57 46,XY females with gonadal dysgenesis have streak gonads but look like normal females at birth. They do not develop secondary sexual characteristics at puberty and do not menstruate. They are chromatin-negative and are usually of normal stature, without the somatic stigmata of Turner syndrome (see 163950) (summary by Mann et al., 1983). For a discussion of genetic heterogeneity of 46,XY sex reversal, see SRXY1 (400044). (616425) (Updated 20-May-2021)

MalaCards based summary : 46,xy Sex Reversal 10, is also known as chromosome 17q24 deletion syndrome. An important gene associated with 46,xy Sex Reversal 10 is SRXY10 (46XY Sex Reversal 10). Affiliated tissues include uterus and testis, and related phenotypes are decreased testicular size and ambiguous genitalia

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 deletion of a region upstream of SOX9 on chromosome 17q24.

UniProtKB/Swiss-Prot : 72 46,XY sex reversal 10: A disorder of sex development. Affected individuals have a 46,XY karyotype, show gonadal dysgenesis with streak gonads, look like normal females at birth, do not develop secondary sexual characteristics at puberty and do not menstruate.

Related Diseases for 46,xy Sex Reversal 10

Symptoms & Phenotypes for 46,xy Sex Reversal 10

Human phenotypes related to 46,xy Sex Reversal 10:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 decreased testicular size 31 occasional (7.5%) HP:0008734
2 ambiguous genitalia 31 occasional (7.5%) HP:0000062
3 gonadoblastoma 31 HP:0000150
4 micropenis 31 HP:0000054
5 sex reversal 31 HP:0012245
6 dysgerminoma 31 HP:0100621

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Internal Genitalia Female:
gonadoblastoma
dysgerminoma
streak ovaries
absent menarche
vagina present (in some patients)
more
Endocrine Features:
elevated follicle-stimulating hormone (fsh) levels
elevated luteinizing hormone (lh) levels
low anti-mullerian hormone (amh) levels
testosterone level in normal male range

Genitourinary External Genitalia Female:
unambiguously female-appearing genitalia (in some patients)

Skeletal:
no skeletal abnormalities detected

Genitourinary External Genitalia Male:
micropenis
urogenital sinus
ambiguous genitalia (in some patients)

Chest Breasts:
absent thelarche

Genitourinary Internal Genitalia Male:
small testis (rare)
dysgenetic male gonads (rare)

Neoplasia:
gonadal germ cell tumors (in some patients)

Clinical features from OMIM®:

616425 (Updated 20-May-2021)

Drugs & Therapeutics for 46,xy Sex Reversal 10

Search Clinical Trials , NIH Clinical Center for 46,xy Sex Reversal 10

Genetic Tests for 46,xy Sex Reversal 10

Anatomical Context for 46,xy Sex Reversal 10

MalaCards organs/tissues related to 46,xy Sex Reversal 10:

40
Uterus, Testis

Publications for 46,xy Sex Reversal 10

Articles related to 46,xy Sex Reversal 10:

# Title Authors PMID Year
1
Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development. 57 6
25604083 2015
2
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development. 6 57
22051515 2011
3
The X linked recessive form of XY gonadal dysgenesis with a high incidence of gonadal germ cell tumours: clinical and genetic studies. 57 6
6620326 1983
4
Genetically determined sex-reversal in 46,XY humans. 6 57
567843 1978
5
Sex reversal following deletion of a single distal enhancer of Sox9. 57
29903884 2018

Variations for 46,xy Sex Reversal 10

ClinVar genetic disease variations for 46,xy Sex Reversal 10:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SOX9 SOX9, 240-KB DEL, UPSTREAM REGULATORY REGION Deletion Pathogenic 192388 GRCh37:
GRCh38:
2 SOX9 SOX9, 577-KB DEL, UPSTREAM REGULATORY REGION Deletion Pathogenic 192389 GRCh37:
GRCh38:
3 SOX9 SOX9, 136-KB DEL, UPSTREAM REGULATORY REGION Deletion Pathogenic 192390 GRCh37:
GRCh38:

Expression for 46,xy Sex Reversal 10

Search GEO for disease gene expression data for 46,xy Sex Reversal 10.

Pathways for 46,xy Sex Reversal 10

GO Terms for 46,xy Sex Reversal 10

Sources for 46,xy Sex Reversal 10

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