46,xx Sex Reversal 5 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Reproductive diseases Endocrine diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 618901

MeSH ⁴⁴ D058531

MedGen ⁴¹ C5394441 CN281159

SNOMED-CT via HPO ⁶⁸ 204315000 21321009 253549006 more

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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)

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Related Diseases for 46,xx Sex Reversal 5

Diseases in the 46,xx Sex Reversal 1 family:

46,xy Sex Reversal 4	46,xy Sex Reversal 7
46,xy Sex Reversal 11	46,xx Sex Reversal 2
46,xy Sex Reversal 2	46,xx Sex Reversal 3
46,xy Sex Reversal 1	46,xy Sex Reversal 3
46,xy Sex Reversal 5	46,xy Sex Reversal 6
46,xy Sex Reversal 8	46,xy Sex Reversal 9
46,xy Sex Reversal 10	46,xx Sex Reversal 4
46,xx Sex Reversal 5	46,xx Sex Reversal
46,xy Sex Reversal

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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)

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Drugs & Therapeutics for 46,xx Sex Reversal 5

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

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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

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Anatomical Context for 46,xx Sex Reversal 5

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

⁴⁰

Uterus, Heart, Testis

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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	Bashamboo A...McElreavey K	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	Carvalheira G...Dias-da-Silva MR	31687637	2019

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Genes for 46,xx Sex Reversal 5

Genes related to 46,xx Sex Reversal 5 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	NR2F2	Nuclear Receptor Subfamily 2 Group F Member 2	Protein Coding	1008.22	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Variants (show sections)	29478779

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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

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Expression for 46,xx Sex Reversal 5

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

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Pathways for 46,xx Sex Reversal 5

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GO Terms for 46,xx Sex Reversal 5

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Sources for 46,xx Sex Reversal 5

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⁷⁴ Wikipedia

46,xx Sex Reversal 5 (SRXX5)

Aliases & Classifications for 46,xx Sex Reversal 5

MalaCards integrated aliases for 46,xx Sex Reversal 5:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for 46,xx Sex Reversal 5

Related Diseases for 46,xx Sex Reversal 5

Diseases in the 46,xx Sex Reversal 1 family:

Symptoms & Phenotypes for 46,xx Sex Reversal 5

Human phenotypes related to 46,xx Sex Reversal 5:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for 46,xx Sex Reversal 5

Genetic Tests for 46,xx Sex Reversal 5

Genetic tests related to 46,xx Sex Reversal 5:

Anatomical Context for 46,xx Sex Reversal 5

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

Publications for 46,xx Sex Reversal 5

Articles related to 46,xx Sex Reversal 5:

Genes for 46,xx Sex Reversal 5

Genes related to 46,xx Sex Reversal 5 (1 elite genes):

Variations for 46,xx Sex Reversal 5

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

Expression 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