MCID: 46X046
MIFTS: 12

46,xy Sex Reversal 4

Aliases & Classifications for 46,xy Sex Reversal 4

MalaCards integrated aliases for 46,xy Sex Reversal 4:

Name: 46,xy Sex Reversal 4 57 75 73
Chromosome 9p24.3 Deletion Syndrome 57 75 13
46,xy Sex Reversal, Type 4 29 6 40
Srxy4 57 75
46,xy Gonadal Dysgenesis, Partial or Complete, with 9p24.3 Deletion 57
46,xy Gonadal Dysgenesis Complete or Partial with 9p24.3 Deletion 75
46xy Sex Reversal 4 57

Characteristics:

HPO:

32
46,xy sex reversal 4:
Inheritance autosomal dominant inheritance


External Ids:

OMIM 57 154230
MedGen 42 C2752149
MeSH 44 D006061
UMLS 73 C2752149

Summaries for 46,xy Sex Reversal 4

UniProtKB/Swiss-Prot : 75 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.

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). Related phenotypes are gonadal dysgenesis and sex reversal

Description from OMIM: 154230

Related Diseases for 46,xy Sex Reversal 4

Symptoms & Phenotypes for 46,xy Sex Reversal 4

Clinical features from OMIM:

154230

Human phenotypes related to 46,xy Sex Reversal 4:

32
# Description HPO Frequency HPO Source Accession
1 gonadal dysgenesis 32 HP:0000133
2 sex reversal 32 HP:0012245

Drugs & Therapeutics for 46,xy Sex Reversal 4

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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

Publications for 46,xy Sex Reversal 4

Variations for 46,xy Sex Reversal 4

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DMRT1 NM_021951.2(DMRT1): c.332G> T (p.Arg111Met) single nucleotide variant Likely pathogenic rs1057519638 GRCh37 Chromosome 9, 842170: 842170
2 DMRT1 NM_021951.2(DMRT1): c.332G> T (p.Arg111Met) single nucleotide variant Likely pathogenic rs1057519638 GRCh38 Chromosome 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 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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