46,XY SEX REVERSAL 3

General Information (adopted from Orphanet):

Synonyms, Signs: SEX REVERSAL, XY, WITH OR WITHOUT ADRENAL FAILURE
46,XY GONADAL DYSGENESIS, COMPLETE OR PARTIAL, WITH OR WITHOUT ADRENAL FAILURE
46,XY SEX REVERSAL, PARTIAL OR COMPLETE, NR5A1-RELATED
DISORDER OF SEX DEVELOPMENT, 46,XY
SRXY3
Number of Symptoms 4
OrphanetNr:
OMIM Id: 612965
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000133) Gonadal dysgenesis 21 / 7739
2
(HPO:0012245) Sex reversal 13 / 7739
3
(HPO:0005092) Streaky metaphyseal sclerosis 2 / 7739
4
(HPO:0001470) Sex-limited autosomal dominant 7 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) A disorder of sex development (DSD) is a 'congenital condition in which development of chromosomal, gonadal, or anatomic sex is atypical.' 46,XY DSD is a disorder of gonadal (testicular) development, which may be complete or partial (Lee et ...
Clinical Description OMIM Achermann et al. (1999) described a phenotypically female patient who presented with primary adrenal failure in the first 2 weeks of life. Her karyotype was XY, and a presumptive diagnosis of congenital lipoid adrenal hyperplasia (201710) was made. ...
Molecular genetics OMIM In a patient with 46,XY complete gonadal dysgenesis, Achermann et al. (1999) identified heterozygosity for a 2-bp mutation in exon 3 of the SF1 (NR5A1) gene (184757.0001), which encodes part of the DNA-binding domain. The finding provided evidence ...