MCID: 46X056
MIFTS: 19

46,xy Sex Reversal 5

Categories: Genetic 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 75
46,xy Sex Reversal, Type 5 29 6 40
46xy Sex Reversal 5 57 13
Srxy5 57 75
46,xy Gonadal Dysgenesis, Complete, Cbx2-Related 57
Disorder of Sex Development, 46,xy, Cbx2-Related 57
46,xy Gonadal Dysgenesis Complete Cbx2-Related 75
Disorder of Sex Development 46,xy Cbx2-Related 75
46,xy Sex Reversal, Cbx2-Related 57
46,xy Sex Reversal Cbx2-Related 75
Sex Reversal, Xy, Cbx2-Related 57
Sex Reversal Xy Cbx2-Related 75
46, Xy Sex Reversal 5 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32

Classifications:



External Ids:

OMIM 57 613080
MedGen 42 C2751317
MeSH 44 D006061
SNOMED-CT via HPO 69 263681008 258211005
UMLS 73 C2751317

Summaries for 46,xy Sex Reversal 5

UniProtKB/Swiss-Prot : 75 46,XY sex reversal 5: 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 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 cervix, uterus and ovary, and related phenotypes are elevated circulating follicle stimulating hormone level and sex reversal

Description from OMIM: 613080

Related Diseases for 46,xy Sex Reversal 5

Symptoms & Phenotypes for 46,xy Sex Reversal 5

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to 46,xy Sex Reversal 5:

32
# Description HPO Frequency HPO Source Accession
1 elevated circulating follicle stimulating hormone level 32 HP:0008232
2 sex reversal 32 HP:0012245

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:

41
Cervix, Uterus, Ovary

Publications for 46,xy Sex Reversal 5

Variations for 46,xy Sex Reversal 5

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

75
# Symbol AA change Variation ID SNP ID
1 CBX2 p.Pro98Leu VAR_063751 rs121908255
2 CBX2 p.Arg443Pro VAR_063752 rs121908256

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CBX2 NM_005189.2(CBX2): c.293C> T (p.Pro98Leu) single nucleotide variant Pathogenic rs121908255 GRCh37 Chromosome 17, 77757535: 77757535
2 CBX2 NM_005189.2(CBX2): c.293C> T (p.Pro98Leu) single nucleotide variant Pathogenic rs121908255 GRCh38 Chromosome 17, 79783736: 79783736
3 CBX2 NM_005189.2(CBX2): c.1328G> C (p.Arg443Pro) single nucleotide variant Pathogenic rs121908256 GRCh37 Chromosome 17, 77758570: 77758570
4 CBX2 NM_005189.2(CBX2): c.1328G> C (p.Arg443Pro) single nucleotide variant Pathogenic rs121908256 GRCh38 Chromosome 17, 79784771: 79784771
5 CBX2 NM_005189.2(CBX2): c.264delC (p.Cys89Alafs) deletion Uncertain significance rs1057519060 GRCh37 Chromosome 17, 77755576: 77755576
6 CBX2 NM_005189.2(CBX2): c.264delC (p.Cys89Alafs) deletion Uncertain significance rs1057519060 GRCh38 Chromosome 17, 79781777: 79781777

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 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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