46,XX disorder of sex development - anorectal anomalies

General Information (adopted from Orphanet):

Synonyms, Signs: Female pseudohermaphrodism - anorectal anomalies
Number of Symptoms 15
OrphanetNr: 2973
OMIM Id:
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: Syndrome with 46,XX disorder of sex development
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
 -Rare urogenital disease
Syndromic anorectal malformation
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndromic uterovaginal malformation
 -Rare gynecologic or obstetric disease

Symptom Information: Sort by abundance 

1
 (HPO:0000795) Abnormality of the urethra Frequent [Orphanet] 38 / 7739
2
 (HPO:0000130) Abnormality of the uterus Very frequent [Orphanet] 86 / 7739
3
 (HPO:0000072) Hydroureter Frequent [Orphanet] 146 / 7739
4
 (HPO:0008678) Renal hypoplasia/aplasia Frequent [Orphanet] 127 / 7739
5
 (HPO:0010458) Female pseudohermaphroditism Very frequent [Orphanet] 17 / 7739
6
 (HPO:0100779) Urogenital sinus anomaly Occasional [Orphanet] 5 / 7739
7
 (HPO:0000107) Renal cyst Frequent [Orphanet] 126 / 7739
8
 (HPO:0000047) Hypospadias Occasional [Orphanet] 250 / 7739
9
 (HPO:0002818) Abnormality of the radius Occasional [Orphanet] 96 / 7739
10
 (HPO:0001562) Oligohydramnios Frequent [Orphanet] 75 / 7739
11
 (HPO:0002566) Intestinal malrotation Occasional [Orphanet] 89 / 7739
12
 (HPO:0002023) Anal atresia Very frequent [Orphanet] 135 / 7739
13
 (HPO:0002575) Tracheoesophageal fistula Occasional [Orphanet] 54 / 7739
14
 (HPO:0002093) Respiratory insufficiency Frequent [Orphanet] 410 / 7739
15
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: