46, XY sex reversal 3; SRXY3
GtoPdb Disease Summaries
This section gives an overview of the disease, and where available shows the following:
- Synonyms: Shows known synonyms for the disease.
- Description: Gives a basic description/definition of the disease.
- Database Link: External links to the same disease at the Disease Ontology, OMIM or Orphanet sites.
- Immunopharmacology comments: General comments about the target's role in immunopharmacology, provided by GtoImmuPdb curators.
- Associated with: Counts are displayed for the total targets the disease is associated with in GtoPdb. The counts of targets and ligands of immunological relevance associated to the disease are also shown.
More information can be found in the help pages.
✖| Disease ID: | 8 | |
| Name: | 46, XY sex reversal 3; SRXY3 | |
| Associated with: | 1 target | |
| Synonyms |
| 46,XY complete gonadal dysgenesis | 46 XY gonadal dysgenesis | 46,XY partial gonadal dysgenesis |
| Database Links |
|
Disease Ontology:
DOID:14448 OMIM: 612965 Orphanet: ORPHA242, ORPHA251510 |
Targets
GtoPdb Disease Summaries - Targets
Click on the target name to link to its detailed view page
Where available, information is display on the role of the target in the disease; drugs which target the disease and their therapeutic use and side-effects.
If there is mutation data curated in GtoPdb this is indicated, with a link back to the appropriate section on the target detailed view page
Immuno ligand interactions - If available, a table of immuno-relevant ligands is shown. These ligands have been curated as having an association to the disease and possess interaction data with the target in GtoPdb. The approval status of the ligand is shown, along with curator comments and an indication of whether the target is considered the primary target of the ligand.
More information can be found in the help pages.
✖| Steroidogenic factor 1 | |
| Role: | In cases with adrenal failure, two mutations (heterozygous 2-bp GGC-to-GAA (G35E) in exon 3 and a G-to-A transition in exon 4 [arg92-to-gln (R92Q) amino acid change]) affect the DNA Binding Domain of the SF-1 receptor. In cases without adrenal failure an 8-bp microdeletion of SF1, that causes premature termination upstream of sequences encoding the activation function-2 domain. Initial cell transfection experiments demonstrate that the mutated protein possessed no intrinsic transcriptional activity but rather inhibited the function of the wildtype protein in most cell types. |
| References: | 1-2 |
| Mutations: | Steroidogenic factor 1 is associated with 3 mutation. Click here for details  |
Ligands
GtoPdb Disease Summaries - Ligands
Click ligand name to view ligand summary page
- Approved: If the ligand is an approved drug this is indicated, along with approval bodies.
- Immuno: Immuno icon indicates the ligand is immuno-relevant
Click the arrow in the final column to expand comments
- Immuno Disease Comments: Curatorial comments specifically added as part of GtoImmuPdb. They give more information on the association between the ligand and disease in the context of immunopharmacology.
- Clinical Use: General clinical comments relating to the ligand and may not necessarily be specific to the disease in question. With hyperlink to more details on the ligand summary pages.
- Bioactivty Comments: Curatorial comments specifically about the compounds biological activity - with hyperlink to more details on the ligand summary pages.
More information can be found in the help pages.
✖No ligand related data available for 46, XY sex reversal 3; SRXY3
References
1. Achermann JC, Ozisik G, Ito M, Orun UA, Harmanci K, Gurakan B, Jameson JL. (2002) Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner. J Clin Endocrinol Metab, 87 (4): 1829-33. [PMID:11932325]
2. Correa RV, Domenice S, Bingham NC, Billerbeck AE, Rainey WE, Parker KL, Mendonca BB. (2004) A microdeletion in the ligand binding domain of human steroidogenic factor 1 causes XY sex reversal without adrenal insufficiency. J Clin Endocrinol Metab, 89 (4): 1767-72. [PMID:15070943]
