MCID: 46X050
MIFTS: 12

46,xx Sex Reversal 3

Aliases & Classifications for 46,xx Sex Reversal 3

MalaCards integrated aliases for 46,xx Sex Reversal 3:

Name: 46,xx Sex Reversal 3 57 75 73
46xx Sex Reversal 3 57 13
Srxx3 57 75
Chromosome Xq26 Duplication Syndrome 57
46,xx Male Sex Reversal Sox3-Related 75
46,xx Sex Reversal, Sox3-Related 57
46,xx Sex Reversal, Type 3 29

Characteristics:

OMIM:

57
Inheritance:
x-linked dominant


HPO:

32
46,xx sex reversal 3:
Inheritance x-linked dominant inheritance


External Ids:

OMIM 57 300833
MeSH 44 D058531
UMLS 73 C3151782

Summaries for 46,xx Sex Reversal 3

UniProtKB/Swiss-Prot : 75 46,XX sex reversal 3: A condition in which male gonads develop in a genetic female (female to male sex reversal).

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

Description from OMIM: 300833

Related Diseases for 46,xx Sex Reversal 3

Symptoms & Phenotypes for 46,xx Sex Reversal 3

Symptoms via clinical synopsis from OMIM:

57
Genitourinary External Genitalia Male:
normal-appearing male external genitalia in 46,xx individuals


Clinical features from OMIM:

300833

Human phenotypes related to 46,xx Sex Reversal 3:

32
# Description HPO Frequency HPO Source Accession
1 sex reversal 32 HP:0012245

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

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
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
Content
Loading form....