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SRXX5
MCID: 46X080
MIFTS: 13
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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:
Name: 46,xx Sex Reversal 5
56
6
Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Reproductive diseases Endocrine diseases |
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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. |
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MalaCards organs/tissues related to 46,xx Sex Reversal 5:40
Heart,
Testis
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Articles related to 46,xx Sex Reversal 5:
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Genes related to 46,xx Sex Reversal 5 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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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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