SRXY5
MCID: 46X056
MIFTS: 23

46,xy Sex Reversal 5 (SRXY5)

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

Aliases & Classifications for 46,xy Sex Reversal 5

MalaCards integrated aliases for 46,xy Sex Reversal 5:

Name: 46,xy Sex Reversal 5 57 12 72
46,xy Sex Reversal, Type 5 29 6 39
Srxy5 57 12 72
46,xy Gonadal Dysgenesis, Complete, Cbx2-Related 57 12
Disorder of Sex Development, 46,xy, Cbx2-Related 57 12
46,xy Sex Reversal, Cbx2-Related 57 12
Sex Reversal, Xy, Cbx2-Related 57 12
46xy Sex Reversal 5 57 13
46,xy Gonadal Dysgenesis Complete Cbx2-Related 72
Disorder of Sex Development 46,xy Cbx2-Related 72
46,xy Sex Reversal Cbx2-Related 72
Sex Reversal Xy Cbx2-Related 72
46, Xy Sex Reversal 5 70

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
one patient has been described (last curated january 2016)


HPO:

31
46,xy sex reversal 5:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111776
OMIM® 57 613080
OMIM Phenotypic Series 57 PS400044
MeSH 44 D006061
MedGen 41 C2751317
SNOMED-CT via HPO 68 258211005
UMLS 70 C2751317

Summaries for 46,xy Sex Reversal 5

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 CBX2 on chromosome 17q25.3.

MalaCards based summary : 46,xy Sex Reversal 5, is also known as 46,xy sex reversal, type 5. An important gene associated with 46,xy Sex Reversal 5 is CBX2 (Chromobox 2). Affiliated tissues include uterus and cervix, and related phenotypes are sex reversal and elevated circulating follicle stimulating hormone level

UniProtKB/Swiss-Prot : 72 46,XY sex reversal 5: A disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal females.

More information from OMIM: 613080 PS400044

Related Diseases for 46,xy Sex Reversal 5

Symptoms & Phenotypes for 46,xy Sex Reversal 5

Human phenotypes related to 46,xy Sex Reversal 5:

31
# Description HPO Frequency HPO Source Accession
1 sex reversal 31 HP:0012245
2 elevated circulating follicle stimulating hormone level 31 HP:0008232

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary External Genitalia Female:
normal female external genitalia

Endocrine Features:
absent anti-mullerian hormone
low basal testosterone
elevated fsh levels
normal lh levels
normal basal plasma cortisol

Genitourinary Internal Genitalia Female:
normal vagina
normal cervix
normal uterus
normal ovaries with primordial follicles

Laboratory Abnormalities:
46,xy karyotype (determined prenatally and confirmed postnatally)

Clinical features from OMIM®:

613080 (Updated 05-Apr-2021)

Drugs & Therapeutics for 46,xy Sex Reversal 5

Search Clinical Trials , NIH Clinical Center for 46,xy Sex Reversal 5

Genetic Tests for 46,xy Sex Reversal 5

Genetic tests related to 46,xy Sex Reversal 5:

# Genetic test Affiliating Genes
1 46,xy Sex Reversal, Type 5 29 CBX2

Anatomical Context for 46,xy Sex Reversal 5

MalaCards organs/tissues related to 46,xy Sex Reversal 5:

40
Uterus, Cervix

Publications for 46,xy Sex Reversal 5

Articles related to 46,xy Sex Reversal 5:

# Title Authors PMID Year
1
Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene. 6 57
19361780 2009
2
CBX2 gene analysis in patients with 46,XY and 46,XX gonadal disorders of sex development. 57
23219007 2013
3
Male-to-female sex reversal in M33 mutant mice. 57
9641679 1998

Variations for 46,xy Sex Reversal 5

ClinVar genetic disease variations for 46,xy Sex Reversal 5:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CBX2 NM_005189.3(CBX2):c.293C>T (p.Pro98Leu) SNV Pathogenic 6826 rs121908255 GRCh37: 17:77757535-77757535
GRCh38: 17:79783736-79783736
2 CBX2 NM_005189.3(CBX2):c.1328G>C (p.Arg443Pro) SNV Pathogenic 6827 rs121908256 GRCh37: 17:77758570-77758570
GRCh38: 17:79784771-79784771
3 CBX2 NM_005189.3(CBX2):c.288+37del Deletion Pathogenic 1031514 GRCh37: 17:77755635-77755635
GRCh38: 17:79781836-79781836
4 CBX2 NM_005189.3(CBX2):c.264del (p.Cys89fs) Deletion Uncertain significance 375260 rs1057519060 GRCh37: 17:77755575-77755575
GRCh38: 17:79781776-79781776

UniProtKB/Swiss-Prot genetic disease variations for 46,xy Sex Reversal 5:

72
# Symbol AA change Variation ID SNP ID
1 CBX2 p.Pro98Leu VAR_063751 rs121908255
2 CBX2 p.Arg443Pro VAR_063752 rs121908256

Expression for 46,xy Sex Reversal 5

Search GEO for disease gene expression data for 46,xy Sex Reversal 5.

Pathways for 46,xy Sex Reversal 5

GO Terms for 46,xy Sex Reversal 5

Sources for 46,xy Sex Reversal 5

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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