SRXY8
MCID: 46X057
MIFTS: 34
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46,xy Sex Reversal 8 (SRXY8)
Categories:
Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases
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MalaCards integrated aliases for 46,xy Sex Reversal 8:
Characteristics:Orphanet epidemiological data:58
46,xy disorder of sex development due to testicular 17,20-desmolase deficiency
Inheritance: Autosomal recessive; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
only 46,xy individuals are affected HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases Anatomical: Endocrine diseases Reproductive diseases
ICD10:
33
Orphanet: 58
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Disease Ontology :
12
A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has material basis in homozygous or compound heterozygous mutation in AKR1C2 on chromosome 10p15.1.
MalaCards based summary : 46,xy Sex Reversal 8, also known as male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase, is related to inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 2 and amelogenesis imperfecta, type ig. An important gene associated with 46,xy Sex Reversal 8 is AKR1C2 (Aldo-Keto Reductase Family 1 Member C2), and among its related pathways/superpathways is Naphthalene metabolism. Related phenotypes are cryptorchidism and male pseudohermaphroditism UniProtKB/Swiss-Prot : 73 46,XY sex reversal 8: A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females. |
Human phenotypes related to 46,xy Sex Reversal 8:31
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:614279 (Updated 05-Mar-2021) |
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Articles related to 46,xy Sex Reversal 8:
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ClinVar genetic disease variations for 46,xy Sex Reversal 8:6
UniProtKB/Swiss-Prot genetic disease variations for 46,xy Sex Reversal 8:73
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Search
GEO
for disease gene expression data for 46,xy Sex Reversal 8.
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Biological processes related to 46,xy Sex Reversal 8 according to GeneCards Suite gene sharing:
Molecular functions related to 46,xy Sex Reversal 8 according to GeneCards Suite gene sharing:
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