SRXX5
MCID: 46X080
MIFTS: 21
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46,xx Sex Reversal 5 (SRXX5)
Categories:
Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases
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MalaCards integrated aliases for 46,xx Sex Reversal 5:Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
clinical variability uterus and/or vagina may be present in some patients HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Reproductive diseases Endocrine diseases |
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) |
Human phenotypes related to 46,xx Sex Reversal 5:31 (show all 7)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618901 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to 46,xx Sex Reversal 5:40
Uterus,
Heart,
Testis
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Articles related to 46,xx Sex Reversal 5:
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ClinVar genetic disease variations for 46,xx Sex Reversal 5:6
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Search
GEO
for disease gene expression data for 46,xx Sex Reversal 5.
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