SRXY8
MCID: 46X057
MIFTS: 34

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 57 12 72 29 6 15
Male Pseudohermaphroditism Due to Deficiency of Testicular 17,20-Desmolase 57 12 72
Srxy8 57 12 72
Tdd 57 12 72
46xy Sex Reversal 8 57 13
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 58
Male Pseudohermaphroditism: Deficiency of Testicular 17,20-Desmolase 70
46xy Sex Reversal 8, Modifier of 57
46,xy Sex Reversal, Type 8 39

Characteristics:

Orphanet epidemiological data:

58

OMIM®:

57 (Updated 20-May-2021)
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® 57 614279
OMIM Phenotypic Series 57 PS400044
MeSH 44 D006061
ICD10 via Orphanet 33 E29.1
UMLS via Orphanet 71 C1839840
Orphanet 58 ORPHA443087
MedGen 41 C1839840
UMLS 70 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 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. Affiliated tissues include bone, and related phenotypes are cryptorchidism and male pseudohermaphroditism

UniProtKB/Swiss-Prot : 72 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®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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

MalaCards organs/tissues related to 46,xy Sex Reversal 8:

40
Bone

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. 57 6
21802064 2011
2
Steroid 17,20-desmolase deficiency: a new cause of male pseudohermaphroditism. 6 57
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 Position
1 AKR1C2 NM_001354.5(AKR1C2):c.235A>G (p.Ile79Val) SNV Pathogenic 30064 rs387906750 GRCh37: 10:5043723-5043723
GRCh38: 10:5001531-5001531
2 AKR1C2 NM_001354.5(AKR1C2):c.270T>G (p.His90Gln) SNV Pathogenic 30065 rs797044460 GRCh37: 10:5042841-5042841
GRCh38: 10:5000649-5000649
3 AKR1C2 NM_001354.5(AKR1C2):c.899A>C (p.Asn300Thr) SNV Pathogenic 30066 rs387906751 GRCh37: 10:5034053-5034053
GRCh38: 10:4991861-4991861
4 AKR1C2 NM_001354.5(AKR1C2):c.666T>G (p.His222Gln) SNV Pathogenic 30067 rs13222 GRCh37: 10:5037962-5037962
GRCh38: 10:4995770-4995770
5 AKR1C2 NM_001354.6(AKR1C2):c.158_159del (p.His53fs) Deletion Pathogenic 1032739 GRCh37: 10:5043799-5043800
GRCh38: 10:5001607-5001608
6 AKR1C2 NM_001354.6(AKR1C2):c.196C>T (p.Arg66Ter) SNV Pathogenic 1032740 GRCh37: 10:5043762-5043762
GRCh38: 10:5001570-5001570
7 AKR1C2 NM_001354.6(AKR1C2):c.610dup (p.Asp204fs) Duplication Pathogenic 1032741 GRCh37: 10:5038017-5038018
GRCh38: 10:4995825-4995826
8 AKR1C4 NM_001818.4(AKR1C4):c.85-106G>T SNV risk factor 30068 rs398122815 GRCh37: 10:5242038-5242038
GRCh38: 10:5200075-5200075
9 AKR1C2 NM_001354.5(AKR1C2):c.441A>G (p.Thr147=) SNV Benign 434114 rs3207909 GRCh37: 10:5041398-5041398
GRCh38: 10:4999206-4999206

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

72
# 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 rs13222
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 AKR1C4 AKR1C2

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 tRNA processing GO:0008033 9.54 ZBTB8OS DTWD2 DTWD1
2 DNA integration GO:0015074 9.32 ZBED9 KRBA2
3 progesterone metabolic process GO:0042448 9.26 AKR1C4 AKR1C2
4 doxorubicin metabolic process GO:0044598 9.16 AKR1C4 AKR1C2
5 daunorubicin metabolic process GO:0044597 8.96 AKR1C4 AKR1C2
6 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 estradiol 17-beta-dehydrogenase activity GO:0004303 9.46 AKR1C4 AKR1C2
2 alditol:NADP+ 1-oxidoreductase activity GO:0004032 9.43 AKR1C4 AKR1C2
3 bile acid binding GO:0032052 9.4 AKR1C4 AKR1C2
4 androstan-3-alpha,17-beta-diol dehydrogenase activity GO:0047044 9.37 AKR1C4 AKR1C2
5 oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor GO:0016655 9.32 AKR1C4 AKR1C2
6 steroid dehydrogenase activity GO:0016229 9.26 AKR1C4 AKR1C2
7 androsterone dehydrogenase activity GO:0047023 9.16 AKR1C4 AKR1C2
8 ketosteroid monooxygenase activity GO:0047086 8.96 AKR1C4 AKR1C2
9 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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