SRXY10
MCID: 46X058
MIFTS: 22

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 58 76 6
Chromosome 17q24 Deletion Syndrome 58 76
Srxy10 58 76
46xy Sex Reversal 10 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
46,xx carriers are unaffected


HPO:

33
46,xy sex reversal 10:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 616425
MeSH 45 D006061

Summaries for 46,xy Sex Reversal 10

OMIM : 58 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)

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, ovary and testis, and related phenotypes are decreased testicular size and ambiguous genitalia

UniProtKB/Swiss-Prot : 76 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:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 decreased testicular size 33 occasional (7.5%) HP:0008734
2 ambiguous genitalia 33 occasional (7.5%) HP:0000062
3 gonadoblastoma 33 HP:0000150
4 micropenis 33 HP:0000054
5 sex reversal 33 HP:0012245
6 dysgerminoma 33 HP:0100621

Symptoms via clinical synopsis from OMIM:

58
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

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:

42
Uterus, Ovary, Testis

Publications for 46,xy Sex Reversal 10

Variations for 46,xy Sex Reversal 10

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SOX9 SOX9, 240-KB DEL, UPSTREAM REGULATORY REGION deletion Pathogenic
2 SOX9 SOX9, 577-KB DEL, UPSTREAM REGULATORY REGION deletion Pathogenic
3 SOX9 SOX9, 136-KB DEL, UPSTREAM REGULATORY REGION deletion Pathogenic

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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