46,XY SEX REVERSAL 1

General Information (adopted from Orphanet):

Synonyms, Signs: SRVX, FORMERLY, INCLUDED
TESTIS-DETERMINING FACTOR, X-CHROMOSOMAL, FORMERLY, INCLUDED
46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED 46,XY TRUE HERMAPHRODITISM, SRY-RELATED, INCLUDED
SEX-REVERSING LOCUS ON X, FORMERLY, INCLUDED
TDFX, FORMERLY, INCLUDED
46,XY SEX REVERSAL, SRY-RELATED
SRXY1
Number of Symptoms 7
OrphanetNr:
OMIM Id: 400044
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:0000786) Primary amenorrhea 61 / 7739
2
(HPO:0012245) Sex reversal 13 / 7739
3
(HPO:0000037) Male pseudohermaphroditism 25 / 7739
4
(HPO:0000133) Gonadal dysgenesis 21 / 7739
5
(HPO:0000055) Abnormality of female external genitalia 5 / 7739
6
(HPO:0008187) Absence of secondary sex characteristics 5 / 7739
7
(HPO:0000098) Tall stature 74 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Individuals with 46,XY complete gonadal dysgenesis are phenotypically female; however, they do not develop secondary sexual characteristics at puberty and do not menstruate. They have bilateral 'streak gonads,' which typically consist of fibrous tissue and variable amounts of ...
Clinical Description OMIM Swyer (1955) described 2 46,XY women with primary amenorrhea, tall stature, female external genitalia (one with enlarged clitoris), and normal, but hypoestrogenized, vagina and cervix.

Affected sisters were reported by Cohen and Shaw (1965), and affected ...

Molecular genetics OMIM - 46,XY Gonadal Dysgenesis, Complete

Page et al. (1987) cloned a 230-kb segment of the human Y chromosome thought to contain some or all of the TDF (SRY) gene. The cloned region spanned the deletion in ...