SRXX5
MCID: 46X080
MIFTS: 21

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 57 73 29 6
Srxx5 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
clinical variability
uterus and/or vagina may be present in some patients


HPO:

31
46,xx sex reversal 5:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 618901
MeSH 44 D058531

Summaries for 46,xx Sex Reversal 5

UniProtKB/Swiss-Prot : 73 46,XX sex reversal 5: A condition in which male gonads develop in a genetic female (female to male sex reversal). Additional features in SRXX5 patients are congenital heart disease, congenital diaphragmatic hernia, and blepharophimosis-ptosis-epicanthus inversus syndrome. SRXX5 inheritance is autosomal dominant.

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 uterus, heart and testis, and related phenotypes are hypoplastic left heart and ventricular septal defect

OMIM® : 57 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) (Updated 05-Mar-2021)

Related Diseases for 46,xx Sex Reversal 5

Symptoms & Phenotypes for 46,xx Sex Reversal 5

Human phenotypes related to 46,xx Sex Reversal 5:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 hypoplastic left heart 31 very rare (1%) HP:0004383
2 ventricular septal defect 31 very rare (1%) HP:0001629
3 ambiguous genitalia 31 very rare (1%) HP:0000062
4 urogenital sinus anomaly 31 very rare (1%) HP:0100779
5 secundum atrial septal defect 31 very rare (1%) HP:0001684
6 increased serum testosterone level 31 very rare (1%) HP:0030088
7 aplasia of the left hemidiaphragm 31 very rare (1%) HP:0009112

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
ptosis
blepharophimosis
epicanthus inversus

Genitourinary External Genitalia Male:
hypospadias
ambiguous genitalia
hyperpigmentation

Genitourinary Internal Genitalia Female:
urogenital sinus
ductus-like wolffian structures

Chest Diaphragm:
congenital diaphragmatic hernia (in 1 patient)

Cardiovascular Heart:
atrial septal defect
hypoplastic left heart
ventricular septal defect
persistent ostium secundum

Genitourinary Internal Genitalia Male:
undescended testicles
nonpalpable or absent gonads
ovotesticular gonad

Endocrine Features:
high testosterone

Genitourinary External Genitalia Female:
phallus-like clitoris

Clinical features from OMIM®:

618901 (Updated 05-Mar-2021)

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

Genetic tests related to 46,xx Sex Reversal 5:

# Genetic test Affiliating Genes
1 46,xx Sex Reversal 5 29 NR2F2

Anatomical Context for 46,xx Sex Reversal 5

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

40
Uterus, Heart, Testis

Publications for 46,xx Sex Reversal 5

Articles related to 46,xx Sex Reversal 5:

# Title Authors PMID Year
1
Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX Children. 57 6
29478779 2018
2
The Natural History of a Man With Ovotesticular 46,XX DSD Caused by a Novel 3-Mb 15q26.2 Deletion Containing NR2F2 Gene. 57
31687637 2019

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_021005.4(NR2F2):c.97_103del (p.Pro33fs) Deletion Pathogenic 916034 15:96875426-96875432 15:96332197-96332203
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
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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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