SRXX5
MCID: 46X080
MIFTS: 13

46,xx Sex Reversal 5 (SRXX5)

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

Aliases & Classifications for 46,xx Sex Reversal 5

MalaCards integrated aliases for 46,xx Sex Reversal 5:

Name: 46,xx Sex Reversal 5 56 6
Srxx5 56

Classifications:



External Ids:

OMIM 56 618901

Summaries for 46,xx Sex Reversal 5

OMIM : 56 SRXX5 is characterized by genital virilization in 46,XX individuals, associated with congenital heart disease and variable somatic anomalies including blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and congenital diaphragmatic hernia (Bashamboo et al., 2018). (618901)

MalaCards based summary : 46,xx Sex Reversal 5, is also known as srxx5. An important gene associated with 46,xx Sex Reversal 5 is NR2F2 (Nuclear Receptor Subfamily 2 Group F Member 2). Affiliated tissues include heart and testis.

Related Diseases for 46,xx Sex Reversal 5

Symptoms & Phenotypes for 46,xx Sex Reversal 5

Clinical features from OMIM:

618901

Drugs & Therapeutics for 46,xx Sex Reversal 5

Search Clinical Trials , NIH Clinical Center for 46,xx Sex Reversal 5

Genetic Tests for 46,xx Sex Reversal 5

Anatomical Context for 46,xx Sex Reversal 5

MalaCards organs/tissues related to 46,xx Sex Reversal 5:

40
Heart, Testis

Publications for 46,xx Sex Reversal 5

Articles related to 46,xx Sex Reversal 5:

# Title Authors PMID Year
1
The Natural History of a Man With Ovotesticular 46,XX DSD Caused by a Novel 3-Mb 15q26.2 Deletion Containing NR2F2 Gene. 56
31687637 2019
2
Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children. 56
29478779 2018

Variations for 46,xx Sex Reversal 5

ClinVar genetic disease variations for 46,xx Sex Reversal 5:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NR2F2 NM_021005.3:c.92_98delGCCCGCCdeletion Pathogenic 916034
2 NR2F2 NM_021005.4(NR2F2):c.103_109del (p.Gly35fs)deletion Pathogenic 916038 15:96875432-96875438 15:96332203-96332209

Expression for 46,xx Sex Reversal 5

Search GEO for disease gene expression data for 46,xx Sex Reversal 5.

Pathways for 46,xx Sex Reversal 5

GO Terms for 46,xx Sex Reversal 5

Sources for 46,xx Sex Reversal 5

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....