Aliases & Classifications for 46,xy Sex Reversal 10

MalaCards integrated aliases for 46,xy Sex Reversal 10:

Name: 46,xy Sex Reversal 10 57 75 6
Chromosome 17q24 Deletion Syndrome 57 75
Srxy10 57 75
46xy Sex Reversal 10 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
46,xx carriers are unaffected


HPO:

32
46,xy sex reversal 10:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 57 616425
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)

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, testis and ovary, and related phenotypes are micropenis and ambiguous genitalia

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

GenitourinaryInternal GenitaliaMale:
small testis (rare)
dysgenetic male gonads (rare)

Neoplasia:
gonadal germ cell tumors (in some patients)


Clinical features from OMIM:

616425

Human phenotypes related to 46,xy Sex Reversal 10:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 micropenis 32 HP:0000054
2 ambiguous genitalia 32 occasional (7.5%) HP:0000062
3 gonadoblastoma 32 HP:0000150
4 decreased testicular size 32 occasional (7.5%) HP:0008734
5 sex reversal 32 HP:0012245
6 dysgerminoma 32 HP:0100621

Drugs & Therapeutics for 46,xy Sex Reversal 10

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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:

41
Uterus, Testis, Ovary

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 ExPASy
19 FMA
28 GO
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31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
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44 MeSH
45 MESH via Orphanet
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49 NCI
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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