Androgen insensitivity syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
AIS Goldberg-Maxwell syndrome Morris syndrome Androgen resistance syndrome Testicular feminization syndrome |
| Number of Symptoms | 8 |
| OrphanetNr: | 754 |
| OMIM Id: |
|
| ICD-10: |
E34.5 |
| UMLs: |
C0039585 C0936016 |
| MeSH: |
D013734 |
| MedDRA: |
10056292 |
| Snomed: |
12313004 52832001 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
X-linked recessive [Orphanet] |
| Age of onset: |
Antenatal Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
46,XY disorder of sex development of endocrine origin
-Rare developmental defect during embryogenesis -Rare endocrine disease -Rare urogenital disease 46,XY disorder of sex development of gynecological interest -Rare genetic disease -Rare gynecologic or obstetric disease Genetic 46,XY disorder of sex development of endocrine origin -Rare genetic disease |
Symptom Information:
|
|
(HPO:0000130) | Abnormality of the uterus | Very frequent [Orphanet] | 86 / 7739 | |||
|
|
(HPO:0000037) | Male pseudohermaphroditism | Very frequent [Orphanet] | 25 / 7739 | |||
|
|
(HPO:0000789) | Infertility | Very frequent [Orphanet] | 74 / 7739 | |||
|
|
(HPO:0010788) | Testicular neoplasm | Occasional [Orphanet] | 10 / 7739 | |||
|
|
(HPO:0000035) | Abnormality of the testis | Very frequent [Orphanet] | 296 / 7739 | |||
|
|
(HPO:0008373) | Puberty and gonadal disorders | Very frequent [Orphanet] | 156 / 7739 | |||
|
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(HPO:0004299) | Hernia of the abdominal wall | Frequent [Orphanet] | 176 / 7739 | |||
|
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(HPO:0002225) | Sparse pubic hair | Very frequent [Orphanet] | 76 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|