46,XY SEX REVERSAL 7

General Information (adopted from Orphanet):

Synonyms, Signs: 46,XY SEX REVERSAL, PARTIAL OR COMPLETE, DHH-RELATED
46,XY GONADAL DYSGENESIS, COMPLETE OR PARTIAL, DHH-RELATED
GONADAL DYSGENESIS, XY, MALE-LIMITED
SRXY7
GDXYM
Number of Symptoms 11
OrphanetNr:
OMIM Id: 233420
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
Heterogeneous
[Omim]
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:0010464) Streak ovary typical [HPO] 8 / 7739
3
 (HPO:0000013) Hypoplasia of the uterus typical [HPO] 21 / 7739
4
 (HPO:0008668) Gonadal dysgenesis, male hallmark [HPO] 3 / 7739
5
 (HPO:0009714) Abnormality of the epididymis typical [HPO] 2 / 7739
6
 (HPO:0008697) Hypoplasia of the fallopian tube typical [HPO] 3 / 7739
7
 (HPO:0000150) Gonadoblastoma typical [HPO] 8 / 7739
8
 (HPO:0012245) Sex reversal 13 / 7739
9
 (HPO:0000786) Primary amenorrhea 61 / 7739
10
 (HPO:0001425) Heterogeneous 132 / 7739
11
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Canto et al. (2004) studied 6 unrelated phenotypic females of Mexican-Mestizo origin with 46,XY complete gonadal dysgenesis. All 6 had bilateral streaks, infantile uterus, and bilateral fallopian tubes, 1 had a left epididymis, and 2 had bilateral epididymis. ...
Molecular genetics OMIM Canto et al. (2004) sequenced the DHH gene using genomic DNA from paraffin-embedded gonadal tissue from 6 patients with complete 46,XY pure gonadal dysgenesis. They identified in 1 patient a homozygous mutation in exon 2 (L162P; 605423.0002) and ...