SRXX3
MCID: 46X050
MIFTS: 17

46,xx Sex Reversal 3 (SRXX3)

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

Aliases & Classifications for 46,xx Sex Reversal 3

MalaCards integrated aliases for 46,xx Sex Reversal 3:

Name: 46,xx Sex Reversal 3 57 12 72 15 70
Srxx3 57 12 72
46xx Sex Reversal 3 57 13
Chromosome Xq26 Duplication Syndrome 57
46,xx Male Sex Reversal Sox3-Related 72
46,xx Sex Reversal, Sox3-Related 57
46,xx Sex Reversal, Type 3 29

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked dominant


HPO:

31
46,xx sex reversal 3:
Inheritance x-linked dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111762
OMIM® 57 300833
MeSH 44 D058531
UMLS 70 C3151782

Summaries for 46,xx Sex Reversal 3

Disease Ontology : 12 A 46,XX sex reversal that has material basis in genomic duplications or deletions in the SOX3 regulatory region on chromosome Xq26.

MalaCards based summary : 46,xx Sex Reversal 3, is also known as srxx3. An important gene associated with 46,xx Sex Reversal 3 is SRXX3 (46XX Sex Reversal 3). Related phenotype is sex reversal.

UniProtKB/Swiss-Prot : 72 46,XX sex reversal 3: A condition in which male gonads develop in a genetic female (female to male sex reversal).

More information from OMIM: 300833

Related Diseases for 46,xx Sex Reversal 3

Symptoms & Phenotypes for 46,xx Sex Reversal 3

Human phenotypes related to 46,xx Sex Reversal 3:

31
# Description HPO Frequency HPO Source Accession
1 sex reversal 31 HP:0012245

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary External Genitalia Male:
normal-appearing male external genitalia in 46,xx individuals

Clinical features from OMIM®:

300833 (Updated 05-Apr-2021)

Drugs & Therapeutics for 46,xx Sex Reversal 3

Search Clinical Trials , NIH Clinical Center for 46,xx Sex Reversal 3

Genetic Tests for 46,xx Sex Reversal 3

Genetic tests related to 46,xx Sex Reversal 3:

# Genetic test Affiliating Genes
1 46,xx Sex Reversal, Type 3 29

Anatomical Context for 46,xx Sex Reversal 3

Publications for 46,xx Sex Reversal 3

Articles related to 46,xx Sex Reversal 3:

# Title Authors PMID Year
1
Identification of SOX3 as an XX male sex reversal gene in mice and humans. 57
21183788 2011

Variations for 46,xx Sex Reversal 3

Expression for 46,xx Sex Reversal 3

Search GEO for disease gene expression data for 46,xx Sex Reversal 3.

Pathways for 46,xx Sex Reversal 3

GO Terms for 46,xx Sex Reversal 3

Sources for 46,xx Sex Reversal 3

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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