MCID: 46X057
MIFTS: 27

46,xy Sex Reversal 8

Categories: Genetic diseases, Endocrine diseases, Fetal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for 46,xy Sex Reversal 8

MalaCards integrated aliases for 46,xy Sex Reversal 8:

Name: 46,xy Sex Reversal 8 57 75 29 6
Male Pseudohermaphroditism Due to Deficiency of Testicular 17,20-Desmolase 57 75
46xy Sex Reversal 8 57 13
Srxy8 57 75
Tdd 57 75
Male Pseudohermaphroditism Due to Deficiency of Testicular 17,20-Desmolase; Tdd 57
46,xy Disorder of Sex Development Due to Testicular 17,20-Desmolase Deficiency 59
Male Pseudohermaphroditism: Deficiency of Testicular 17,20-Desmolase 73
46xy Sex Reversal 8, Modifier of 57
46,xy Sex Reversal, Type 8 40

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
only 46,xy individuals are affected


HPO:

32
46,xy sex reversal 8:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 614279
Orphanet 59 ORPHA443087
UMLS via Orphanet 74 C1839840
ICD10 via Orphanet 34 E29.1
MedGen 42 C1839840
MeSH 44 D006061
UMLS 73 C1839840

Summaries for 46,xy Sex Reversal 8

UniProtKB/Swiss-Prot : 75 46,XY sex reversal 8: A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females.

MalaCards based summary : 46,xy Sex Reversal 8, is also known as male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase. 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 are Cytochrome P450 - arranged by substrate type and Synthesis of bile acids and bile salts. Related phenotypes are cryptorchidism and male pseudohermaphroditism

Description from OMIM: 614279

Related Diseases for 46,xy Sex Reversal 8

Symptoms & Phenotypes for 46,xy Sex Reversal 8

Symptoms via clinical synopsis from OMIM:

57
Genitourinary External Genitalia Male:
ambiguous external genitalia

Genitourinary Internal Genitalia Female:
rudimentary mullerian structures (rare)

GenitourinaryInternal GenitaliaMale:
testicular tissue able to convert dehydroepiandrosterone and androstenedione to testosterone
cryptorchidism

Endocrine Features:
undervirilization
elevated urinary gonadotropins
low urinary estrogens
urinary 17-oxosteroids normal
urinary 17-hydroxycorticoids normal
more

Clinical features from OMIM:

614279

Human phenotypes related to 46,xy Sex Reversal 8:

32
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 HP:0000028
2 male pseudohermaphroditism 32 HP:0000037
3 ambiguous genitalia 32 HP:0000062
4 sex reversal 32 HP:0012245

Drugs & Therapeutics for 46,xy Sex Reversal 8

Search Clinical Trials , NIH Clinical Center for 46,xy Sex Reversal 8

Genetic Tests for 46,xy Sex Reversal 8

Genetic tests related to 46,xy Sex Reversal 8:

# Genetic test Affiliating Genes
1 46,xy Sex Reversal 8 29 AKR1C2 AKR1C4

Anatomical Context for 46,xy Sex Reversal 8

Publications for 46,xy Sex Reversal 8

Variations for 46,xy Sex Reversal 8

UniProtKB/Swiss-Prot genetic disease variations for 46,xy Sex Reversal 8:

75
# Symbol AA change Variation ID SNP ID
1 AKR1C2 p.Ile79Val VAR_066632 rs387906750
2 AKR1C2 p.His90Gln VAR_066633 rs797044460
3 AKR1C2 p.His222Gln VAR_066634
4 AKR1C2 p.Asn300Thr VAR_066635 rs387906751

ClinVar genetic disease variations for 46,xy Sex Reversal 8:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 AKR1C2 NM_001354.5(AKR1C2): c.235A> G (p.Ile79Val) single nucleotide variant Pathogenic rs387906750 GRCh37 Chromosome 10, 5043723: 5043723
2 AKR1C2 NM_001354.5(AKR1C2): c.235A> G (p.Ile79Val) single nucleotide variant Pathogenic rs387906750 GRCh38 Chromosome 10, 5001531: 5001531
3 AKR1C2 NM_001354.5(AKR1C2): c.270T> G (p.His90Gln) single nucleotide variant Pathogenic rs797044460 GRCh37 Chromosome 10, 5042841: 5042841
4 AKR1C2 NM_001354.5(AKR1C2): c.270T> G (p.His90Gln) single nucleotide variant Pathogenic rs797044460 GRCh38 Chromosome 10, 5000649: 5000649
5 AKR1C2 NM_001354.5(AKR1C2): c.899A> C (p.Asn300Thr) single nucleotide variant Pathogenic rs387906751 GRCh37 Chromosome 10, 5034053: 5034053
6 AKR1C2 NM_001354.5(AKR1C2): c.899A> C (p.Asn300Thr) single nucleotide variant Pathogenic rs387906751 GRCh38 Chromosome 10, 4991861: 4991861
7 AKR1C2 AKR1C2, HIS222GLN single nucleotide variant Pathogenic
8 AKR1C4 NM_001818.3(AKR1C4): c.85-106G> T single nucleotide variant risk factor rs398122815 GRCh37 Chromosome 10, 5242038: 5242038
9 AKR1C4 NM_001818.3(AKR1C4): c.85-106G> T single nucleotide variant risk factor rs398122815 GRCh38 Chromosome 10, 5200075: 5200075

Expression for 46,xy Sex Reversal 8

Search GEO for disease gene expression data for 46,xy Sex Reversal 8.

Pathways for 46,xy Sex Reversal 8

Pathways related to 46,xy Sex Reversal 8 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.26 AKR1C2 AKR1C4
2
Show member pathways
11.4 AKR1C2 AKR1C4
3
Show member pathways
10.77 AKR1C2 AKR1C4
4 10 AKR1C2 AKR1C4

GO Terms for 46,xy Sex Reversal 8

Biological processes related to 46,xy Sex Reversal 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.43 AKR1C2 AKR1C4
2 steroid metabolic process GO:0008202 9.4 AKR1C2 AKR1C4
3 prostaglandin metabolic process GO:0006693 9.37 AKR1C2 AKR1C4
4 progesterone metabolic process GO:0042448 9.32 AKR1C2 AKR1C4
5 daunorubicin metabolic process GO:0044597 9.26 AKR1C2 AKR1C4
6 doxorubicin metabolic process GO:0044598 9.16 AKR1C2 AKR1C4
7 C21-steroid hormone metabolic process GO:0008207 8.96 AKR1C2 AKR1C4
8 cellular response to jasmonic acid stimulus GO:0071395 8.62 AKR1C2 AKR1C4

Molecular functions related to 46,xy Sex Reversal 8 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.46 AKR1C2 AKR1C4
2 steroid binding GO:0005496 9.43 AKR1C2 AKR1C4
3 alditol:NADP+ 1-oxidoreductase activity GO:0004032 9.4 AKR1C2 AKR1C4
4 alcohol dehydrogenase (NADP+) activity GO:0008106 9.37 AKR1C2 AKR1C4
5 bile acid binding GO:0032052 9.32 AKR1C2 AKR1C4
6 oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor GO:0016655 9.26 AKR1C2 AKR1C4
7 steroid dehydrogenase activity GO:0016229 9.16 AKR1C2 AKR1C4
8 ketosteroid monooxygenase activity GO:0047086 8.96 AKR1C2 AKR1C4
9 androsterone dehydrogenase activity GO:0047023 8.62 AKR1C2 AKR1C4

Sources for 46,xy Sex Reversal 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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