SRXY8
MCID: 46X057
MIFTS: 35

46,xy Sex Reversal 8 (SRXY8)

Categories: Endocrine diseases, Fetal diseases, Genetic 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 56 12 73 29 6 15
Male Pseudohermaphroditism Due to Deficiency of Testicular 17,20-Desmolase 56 12 73
Srxy8 56 12 73
Tdd 56 12 73
46xy Sex Reversal 8 56 13
Male Pseudohermaphroditism Due to Deficiency of Testicular 17,20-Desmolase; Tdd 56
46,xy Disorder of Sex Development Due to Testicular 17,20-Desmolase Deficiency 58
Male Pseudohermaphroditism: Deficiency of Testicular 17,20-Desmolase 71
46xy Sex Reversal 8, Modifier of 56
46,xy Sex Reversal, Type 8 39

Characteristics:

Orphanet epidemiological data:

58

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
only 46,xy individuals are affected


HPO:

31
46,xy sex reversal 8:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111773
OMIM 56 614279
OMIM Phenotypic Series 56 PS400044
MeSH 43 D006061
ICD10 via Orphanet 33 E29.1
UMLS via Orphanet 72 C1839840
Orphanet 58 ORPHA443087
MedGen 41 C1839840
UMLS 71 C1839840

Summaries for 46,xy Sex Reversal 8

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 hepatocellular carcinoma and pik3ca-related overgrowth syndrome. 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 Naphthalene metabolism and Glycosaminoglycan degradation. 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.

More information from OMIM: 614279 PS400044

Related Diseases for 46,xy Sex Reversal 8

Graphical network of the top 20 diseases related to 46,xy Sex Reversal 8:



Diseases related to 46,xy Sex Reversal 8

Symptoms & Phenotypes for 46,xy Sex Reversal 8

Human phenotypes related to 46,xy Sex Reversal 8:

31
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 31 HP:0000028
2 male pseudohermaphroditism 31 HP:0000037
3 ambiguous genitalia 31 HP:0000062
4 sex reversal 31 HP:0012245

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Internal Genitalia Male:
cryptorchidism
testicular tissue able to convert dehydroepiandrosterone and androstenedione to testosterone

Genitourinary Internal Genitalia Female:
rudimentary mullerian structures (rare)

Genitourinary External Genitalia Male:
ambiguous external genitalia

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

Clinical features from OMIM:

614279

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

Articles related to 46,xy Sex Reversal 8:

# Title Authors PMID Year
1
Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation. 6 56
21802064 2011
2
Steroid 17,20-desmolase deficiency: a new cause of male pseudohermaphroditism. 6 56
4352099 1972

Variations for 46,xy Sex Reversal 8

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AKR1C2 NM_001354.5(AKR1C2):c.235A>G (p.Ile79Val)SNV Pathogenic 30064 rs387906750 10:5043723-5043723 10:5001531-5001531
2 AKR1C2 NM_001354.5(AKR1C2):c.270T>G (p.His90Gln)SNV Pathogenic 30065 rs797044460 10:5042841-5042841 10:5000649-5000649
3 AKR1C2 NM_001354.5(AKR1C2):c.899A>C (p.Asn300Thr)SNV Pathogenic 30066 rs387906751 10:5034053-5034053 10:4991861-4991861
4 AKR1C2 NM_001354.5(AKR1C2):c.666T>G (p.His222Gln)SNV Pathogenic 30067 rs13222 10:5037962-5037962 10:4995770-4995770
5 AKR1C4 NM_001818.4(AKR1C4):c.85-106G>TSNV risk factor 30068 rs398122815 10:5242038-5242038 10:5200075-5200075
6 AKR1C2 NM_001354.5(AKR1C2):c.441A>G (p.Thr147=)SNV Benign 434114 rs3207909 10:5041398-5041398 10:4999206-4999206

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

73
# 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

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 10.34 AKR1C4 AKR1C2
2
Show member pathways
9.92 HPSE HEXA

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 progesterone metabolic process GO:0042448 9.32 AKR1C4 AKR1C2
2 C21-steroid hormone metabolic process GO:0008207 9.26 AKR1C4 AKR1C2
3 doxorubicin metabolic process GO:0044598 9.16 AKR1C4 AKR1C2
4 daunorubicin metabolic process GO:0044597 8.96 AKR1C4 AKR1C2
5 cellular response to jasmonic acid stimulus GO:0071395 8.62 AKR1C4 AKR1C2

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

# Name GO ID Score Top Affiliating Genes
1 alcohol dehydrogenase (NADP+) activity GO:0008106 9.43 AKR1C4 AKR1C2
2 alditol:NADP+ 1-oxidoreductase activity GO:0004032 9.4 AKR1C4 AKR1C2
3 bile acid binding GO:0032052 9.37 AKR1C4 AKR1C2
4 oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor GO:0016655 9.32 AKR1C4 AKR1C2
5 steroid dehydrogenase activity GO:0016229 9.26 AKR1C4 AKR1C2
6 androsterone dehydrogenase activity GO:0047023 9.16 AKR1C4 AKR1C2
7 ketosteroid monooxygenase activity GO:0047086 8.96 AKR1C4 AKR1C2
8 tRNA-uridine aminocarboxypropyltransferase activity GO:0016432 8.62 DTWD2 DTWD1

Sources for 46,xy Sex Reversal 8

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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