SRXY4
MCID: 46X046
MIFTS: 20

46,xy Sex Reversal 4 (SRXY4)

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

Aliases & Classifications for 46,xy Sex Reversal 4

MalaCards integrated aliases for 46,xy Sex Reversal 4:

Name: 46,xy Sex Reversal 4 57 12 72 70
Chromosome 9p24.3 Deletion Syndrome 57 12 72
46,xy Sex Reversal, Type 4 29 6 39
Srxy4 57 12 72
46,xy Gonadal Dysgenesis, Partial or Complete, with 9p24.3 Deletion 57 12
46xy Sex Reversal 4 57 13
46,xy Gonadal Dysgenesis Complete or Partial with 9p24.3 Deletion 72

Characteristics:

HPO:

31
46,xy sex reversal 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111771
OMIM® 57 154230
OMIM Phenotypic Series 57 PS400044
MeSH 44 D006061
MedGen 41 C2752149
UMLS 70 C2752149

Summaries for 46,xy Sex Reversal 4

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 but with the absence of other features of the chromosome 9p deletion syndrome that has material basis in heterozygous deletion of a region on chromosome 9p.

MalaCards based summary : 46,xy Sex Reversal 4, is also known as chromosome 9p24.3 deletion syndrome. An important gene associated with 46,xy Sex Reversal 4 is DMRT1 (Doublesex And Mab-3 Related Transcription Factor 1). Affiliated tissues include testis, and related phenotypes are gonadal dysgenesis and sex reversal

UniProtKB/Swiss-Prot : 72 46,XY sex reversal 4: A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype. Patients display complete or partial gonadal dysgenesis and a chromosome 9p deletion.

More information from OMIM: 154230 PS400044

Related Diseases for 46,xy Sex Reversal 4

Symptoms & Phenotypes for 46,xy Sex Reversal 4

Human phenotypes related to 46,xy Sex Reversal 4:

31
# Description HPO Frequency HPO Source Accession
1 gonadal dysgenesis 31 HP:0000133
2 sex reversal 31 HP:0012245

Clinical features from OMIM®:

154230 (Updated 05-Apr-2021)

Drugs & Therapeutics for 46,xy Sex Reversal 4

Search Clinical Trials , NIH Clinical Center for 46,xy Sex Reversal 4

Genetic Tests for 46,xy Sex Reversal 4

Genetic tests related to 46,xy Sex Reversal 4:

# Genetic test Affiliating Genes
1 46,xy Sex Reversal, Type 4 29

Anatomical Context for 46,xy Sex Reversal 4

MalaCards organs/tissues related to 46,xy Sex Reversal 4:

40
Testis

Publications for 46,xy Sex Reversal 4

Articles related to 46,xy Sex Reversal 4:

(show all 13)
# Title Authors PMID Year
1
Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA. 57
19417767 2009
2
Sex-determining gene(s) on distal 9p: clinical and molecular studies in six cases. 57
10999792 2000
3
FISH mapping of the sex-reversal region on human chromosome 9p in two XY females and in primates. 57
10780781 2000
4
Swyer syndrome and 46,XY partial gonadal dysgenesis associated with 9p deletions in the absence of monosomy-9p syndrome. 57
9718353 1998
5
A gene involved in XY sex reversal is located on chromosome 9, distal to marker D9S1779. 57
9718346 1998
6
Molecular analysis of 9p deletions associated with XY sex reversal: refining the localization of a sex-determining gene to the tip of the chromosome. 57
9718347 1998
7
Failure of testicular development associated with a rearrangement of 9p24.1 proximal to the SNF2 gene. 57
9521582 1998
8
XY sex reversal and gonadal dysgenesis due to 9p24 monosomy. 57
9415692 1997
9
Deletions of distal 9p associated with 46,XY male to female sex reversal: definition of the breakpoints at 9p23.3-p24.1. 57
9143505 1997
10
Deletion 9p and sex reversal. 57
8326498 1993
11
Evidence for distinguishable transcripts of the putative testis determining gene (ZFY) and mapping of homologous cDNA sequences to chromosomes X,Y and 9. 57
2498838 1989
12
Eleven new cases of del(9p) and features from 80 cases. 57
3070043 1988
13
[Genetic study of a fetus with 9p direct duplication deletion syndrome]. 61
28604969 2017

Variations for 46,xy Sex Reversal 4

ClinVar genetic disease variations for 46,xy Sex Reversal 4:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DMRT1 NM_021951.3(DMRT1):c.332G>T (p.Arg111Met) SNV Likely pathogenic 393463 rs1057519638 GRCh37: 9:842170-842170
GRCh38: 9:842170-842170

Expression for 46,xy Sex Reversal 4

Search GEO for disease gene expression data for 46,xy Sex Reversal 4.

Pathways for 46,xy Sex Reversal 4

GO Terms for 46,xy Sex Reversal 4

Sources for 46,xy Sex Reversal 4

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
Content
Loading form....